prenatal screening review essay

• Open access
• Published: 03 February 2023

Addressing ethical issues related to prenatal diagnostic procedures

• Dan Kabonge Kaye   ORCID: orcid.org/0000-0003-1490-859X 1 , 2  

Maternal Health, Neonatology and Perinatology volume  9 , Article number:  1 ( 2023 ) Cite this article

5951 Accesses

4 Citations

Metrics details

For women of advanced maternal age or couples with high risk of genetic mutations, the ability to screen for embryos free of certain genetic mutations is reassuring, as it provides opportunity to address age-related decline in fertility through preimplantation genetic testing. This procedure has potential to facilitate better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, among others, yet confers some risk to the embryo and additional costs of assisted reproductive technology. This raises questions whether, when and which patients should receive routine PGT-A prior to embryo transfer.

Prenatal diagnostic procedures refer to tests done when one or both genetic parents has a known genetic disorder (or has worries about the disorder) and testing is performed on them, their gametes or on the embryos to determine if the latter is likely to carry a genetic disorder. PGT is used to identify genetic defects in gametes or embryos (often created through in vitro fertilization (IVF). The procedures generate immense potential to improve health and wellbeing by preventing conception or birth of babies with undesirable traits, life-limiting conditions and even lethal conditions. However, they generate a lot of information, which often may challenge decision-making ability of healthcare providers and parents, and raise ethical challenges.

Prenatal diagnostic procedures have potential to address uncertainty and risk of having a child affected with a genetic disease. They, however, often raise own uncertainty and controversies, whose origin, manifestation and related ethical issues are presented. There is need to develop individual and couple decision support tools that incorporate patients’ values and concerns in the decision-making process in order to promote more informed decisions, during counseling.

Prenatal diagnostic testing include tests done on individuals, their gametes, embryos or unborn fetus with the purpose of detecting disorders, including certain hereditary or spontaneous genetic disorders. Prenatal genetic testing (PGT) is indicated in couples carrying balanced chromosomal translocation, since about half of the embryos would have chromosomal abnormalities, ad thereby contribute to implantation failure, early miscarriage or fetal anomalies. Such procedures include routine ultrasonography and certain blood tests (as part of routine prenatal care procedures) as well as, or as a precursor, to more invasive prenatal genetic tests (such as chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling) [ 1 ]. The procedures may include genetic analysis of artificially fertilized embryos to select an embryo with a desired genotype before it is implanted. In in-vitro fertilization (IVF), PGT procedures are used to screen in-vitro fertilized embryos for their potential success in uterine implantation, in an attempt to improve pregnancy rates, and are indicated in cases of male infertility, advanced maternal age and recurrent miscarriage [ 2 ]. The goal of such testing is to determine better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, thereby addressing age-related decline in fertility [ 1 , 2 , 3 ]. In addition, PGT reduces the risk of conceiving a child with genetic disorders, thus has potential to reduce rates of elective pregnancy termination for fetal/embryo abnormalities as the indication [ 3 , 4 ]. A strategy to combine screening for aneuploidy embryos with the routine in vitro fertilization (IVF) procedure is called preimplantation genetic testing of aneuploidy (PGD-A). This paper addresses the questions of whether, when and which patients should receive PGT-A prior to embryo transfer, and the implications for informed decision making. The more invasive tests are conducted when couples have an increased risk of a chromosomal disorder (particularly when the woman is 35 or older), or having a baby with the congenital anomaly such as a neural tube defect. [ 1 ]. The more invasive genetic tests and procedures conducted on the gametes and early embryos are referred to as pre-implantation genetic testing (PGT) [ 2 , 3 ]. These tests are routinely provided for couples who seek assisted reproductive technologies in Uganda.

Many pregnant women and couples are offered prenatal diagnostic procedures on request or are advised to have them conducted routinely. Before accepting or requesting for the tests, couples should discuss the risks with their healthcare practitioner and weigh the potential risks against their need to know, and should consider the effects of knowing the results on their wellbeing, as well as the implications of the knowledge gained on healthcare decisions [ 1 ] For some couples, the risks of undergoing the tests or knowing the results outweigh the benefits of knowing whether their baby has a genetic or chromosomal disorder, and may choose not to be tested [ 1 , 3 ]. There is limited information on individual and couple decision-making processes for prenatal diagnostic procedures including PGT [ 1 , 3 ]. Yet the increasing technical complexity and evolving options for PGT have implications for information processing and decision making for couples faced by decision regarding whether to authorize the tests and what decisions to take after knowing the results [ 4 , 5 , 6 ].

The factors which couples consider in decision-making could include motivation by prospects of a healthy, genetic-variant-free child, ability to commit time, financial resources and emotions, considerations for what would be done to the unused embryos or whether it is right to discard them, and the patients’ trust in and acceptance of results of the available technologies [ 5 ]. Such decisions are always complex for individuals and couples [ 5 ]. Not only is there scanty data on PGT decision-making processes, the available data is inconsistent, partly from failure to use validated instruments [ 5 ]. Couples' decision-making involves three dynamic dimensions: cognitive appraisals (subjective interpretation made by an individual to stimuli in the environment), emotional responses (the emotions an individual goes through after receiving information), and moral judgments (the process by which individuals define what is right or wrong) [ 6 ]. All these factors further compound the uncertainty for couples beset with making decisions about PGT. This paper analyses the issues of uncertainty that characterize prenatal diagnostic procedures in general and PGT in particular, with suggestions on how these could be mitigated, prevented or addressed.

Preimplantation genetic testing

Preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) are terms traditionally used to describe genetic testing of embryos before a pregnancy is established [ 2 , 3 ]. While PGS was used to refers to screening for chromosomal disorders (such as Down syndrome), PGD was used to screen for genetic defects involving a single gene (such as cystic fibrosis) [ 3 ]. Currently, the term Preimplantation genetic testing (PGT) encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD), and is used to refer to all the series of tests performed to analyze the DNA from oocytes (polar bodies) or embryos (cleavage stage or blastocyst) for HLA-typing or for determining genetic or chromosomal disorders [ 2 ]. PGT includes PGT for aneuploidies (PGT-A) (previously called PGS or preimplantation genetic screening); PGT for monogenic/single gene defects, including autosomal recessive, autosomal dominant, and X-linked conditions (PGT-M); and PGT for chromosomal structural rearrangements (PGT-SR) (previously called PGS translocation) [ 2 ]. PGT is extremely useful in several situations: First, PGT is used in screening for couples in which one or both partners are carriers of an inherited genetic disorder, or suspect to have high risk of such inheritable disorders [ 2 , 3 , 4 ]. Secondly, PGT improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth [ 3 , 4 ]. Here, PGT enables the identification of embryos with specific disease-causing mutations and therefore transfer of unaffected embryos. For instance, PGT may be used where a couple carries a gene for specific disorders (such as hemoglobinopathies), where genetic testing is conducted on the embryo before implantation. Thirdly, PGT may be used to identify chromosomally normal embryos to transfer so as to achieve a normal pregnancy, after considering other factors such as high maternal age, the number and quality of embryos, the results of the embryo biopsies, and other fertility-related factors [ 3 , 4 , 5 ]. The technique provides a practical alternative to preconception diagnosis so as to prevent termination of pregnancy in couples with a high risk for offspring affected by a sex-linked genetic disease, mono-genetic disorders or autosomal dominant diseases such as myotonic dystrophy, Huntington’s disease and Marfan’s syndrome. For sex-linked diseases, the embryos are tested to ascertain the sex so that only female embryos are transferred. Genetic analysis may also be conducted at the single-cell level, where first and second polar bodies from oocytes or blastomeres from cleavage-stage embryos are assessed [ 3 , 4 , 5 ].

There are three main groups of disorders for which PGT is indicated. X-linked diseases are inherited from a mother who is a carrier, and are caused by an abnormal X chromosome and manifest in sons, who do not inherit the normal X chromosome from the father [ 7 ]. Since, the X chromosome is transmitted to offspring/embryos through the mother, affected fathers have sons who are not affected, while their daughters have a 50% risk of being carriers if the mother is asymptomatic [ 7 ]. Sex-linked recessive disorders include hemophilia, fragile X syndrome, most neuromuscular dystrophies [ 7 ]. PGT may be used to identify single gene defects such as cystic fibrosis, Sickle disease, sickle cell anemia, and Huntington disease, where the abnormal gene may be detectable with molecular techniques using polymerase chain reaction (PCR) amplification of DNA from a single cell [ 7 ]. Indications for prenatal diagnosis include women of advanced maternal age, history of an affected family member, couples with history of recurrent pregnancy loss, male partner with severe male factor infertility, and couples with repeated IVF failure [ 7 ]. PGT can decrease the risk of IVF failure by selecting chromosomally normal embryos with a higher chance of implantation and eventual pregnancy [ 3 , 4 , 7 ].

Prenatal diagnostic procedures during pregnancy

There are several diagnostic procedures that can be conducted during the first and second trimester of pregnancy. Screening during the first trimester usually consists of: 1) blood tests to measure levels of pregnancy-associated placental protein A (produced by the placenta) and beta-human chorionic gonadotropin in the pregnant woman’s blood; 2) Ultrasonography to assess for fetal nuchal translucency). Both tests are used to screen for Down Syndrome and certain other chromosomal disorders.3) Cell-free fetal nucleic acid [cfDNA] testing) may be done to determine the risk of Down syndrome and some other chromosomal disorders in couples with a high risk of having a fetus with a chromosomal disorder. One advantage of first-trimester screening is that with earlier results, abortion, if desired, can be done earlier, when it is safer.

During the second trimester, markers in the pregnant woman’s blood can be measured (and together with ultrasonography, can evaluate the risk that the fetus will have certain disorders. The tests include measurement of Estriol: formed from precursor substances produced by the fetus, Human chorionic gonadotropin (produced by the placenta), Inhibin A (produced by the placenta) and alpha-fetoprotein (a high level of which may indicate an increased risk of having neural tube defects of the brain or spinal cord (spina bifida), defects of the abdominal wall and intrauterine fetal growth restriction.

Uncertainty related to prenatal diagnostic procedures

Prenatal diagnostic procedures in general and PGT in particular generate a lot of uncertainty regarding decision-making. Individuals and couples think critically about uncertain information, contend with conflicting emotions, and combine moral perspectives into their decision-making about whether or not to accept PGT [ 1 , 6 ]. Decisional factors related to values about conception, disability, pregnancy termination, past pregnancy experiences, optimism toward technology and cost play a critical role in the decision-making process for PGT [ 8 ]. Other factors important in decision-making include opportunities for expanded carrier screening prior to in-vitro fertilization (IVF) itself, maternal age and knowledge about IVF and PGT [ 8 ]. There is limited opportunity to access decision support tools that incorporate patients’ values and past experiences in the decision-making process to promote a more informed decision [ 8 ]. Cost implications for PGT are critical: for instance, the cost to attain a 50% likelihood of a normal blastocyst may be up to 10 times higher older women (aged above 40 years) with low Anti-Mullerian hormone (AMH) levels when compared with the young women with high AMH values [ 9 ]. As a state, uncertainty may vary from falling short of certainty to an almost complete lack of conviction or knowledge specifically about an outcome or result, with inability to make a decision, or unwillingness to believe without conclusive evidence [ 10 ]. Uncertainty in healthcare is experienced by patients and healthcare professionals in differing ways, motivates diverse actions, and elicits diverse responses [ 11 , 12 , 13 ]. All screening tests harbor the prospect that uncertain information could arise. The data generated from prenatal diagnostic procedures implies that data of uncertain diagnostic significance, uncertain prognosis, or meaning that changes over time (as more knowledge becomes available) may be generated [ 6 , 8 , 9 , 10 ], with diverse ethical, legal and clinical implications. Uncertainty in prenatal diagnostic procedures is particularly related to communication (or failure to communicate) uncertain information [ 14 , 15 , 16 , 17 ].

Often times, families get concerned about conceiving and delivering a child who may have preventable genetic disorders or disabilities [ 17 ]. The parents may consider options such as pre-conceptional counseling, genetic or genomic testing and screening and prenatal non-invasive or invasive diagnostic procedures. The goal of all these is to prevent or identify fetuses that are affected with a certain undesirable trait so that parents may decide whether to conceive, terminate the pregnancy, or (if they opt to continue the pregnancy) to have the pregnancy as a high-risk pregnancy. The latter option involves preparations for pregnancy and eventual childbirth after appropriate counseling and support) [ 7 , 17 , 18 ]. Where the pregnancies are unaffected, the parents are given reassurance, which is beneficial for pregnancies with a high a priori risk [ 17 , 18 ].

There are several ethical issues related to use of this technology, often related to ethical implications of the results generated by the technology, particularly the potential for harm that may arise from decision-making. The technological advances may enable couples prevent birth of a child with undesirable defects, and from the societal value, can reduce the burden of genetic and hereditary disorders [ 17 , 18 ]. For instance, genetic testing may identify hereditary disorders such as hemoglobinopathies. Genetic testing can also be used to determine severity of disease [ 17 ]. For instance, there are over 2,000 different mutations in the gene that causes cystic fibrosis [ 7 ]. Not all of them cause disease, and of those that are disease-causing, different mutations cause different levels of severity of disease [ 7 ]. Genetic testing can be performed as part of a couple’s preconception care, usually carrier screening because one or both parents have a family history or an increased risk for having a particular mutation.

Prenatal diagnostic procedures generate a lot of data, which is the source of uncertainty.

Often, the genetic screening creates more uncertainty and raises ethical issues related to how to handle the information generated. Screening tests primarily target identification of chromosome disorders, notably Down syndrome (through a combination of maternal age, maternal serum biochemical tests, and fetal ultrasound) and single gene disorders with Mendelian patterns of inheritance, identifiable by screening for carrier status (such as hemoglobinopathies) [ 7 , 17 , 18 ]. However, few pregnancies can be identified as high-risk, depending on the population screened and the test protocols, yet the latter can be very costly [ 7 ]. For X-linked disorders, half of the discarded male embryos are normal, while half of the female embryos transferred may be carriers of the condition [ 19 ]. For Duchenne muscular dystrophy and fragile X syndrome, even half of female embryos may be affected [ 19 ].

In non-disclosure PGT as used for Huntington’s disease and some late-onset diseases, patients may not wish to know their carrier status but want to have disease-free offspring [ 19 ], such that embryos are tested without revealing any of the details of the diagnosis [ 19 ]. Using Human Leukcocyte antigen (HLA) testing, PGT may be undertaken to select embryos not affected with a disease, such as Fanconi anemia, but which have the same HLA type as an affected sibling [ 19 ]. In this case, a child is conceived to be used as a treatment for a sibling, thereby breaching the Kantian imperative that a person should never be used as a means. There is concern that that children conceived for the benefit of their siblings are not valued in their own right [ 19 , 20 ]. Should the latter child be informed that they were conceived primarily to provide therapy for an elder sibling? The counter argument is that all children may be valued, that the HLA stem cell child donor may even be more valued for having contributed to the health of a sibling, and that it may not harm either sibling if they are informed at the appropriate age [ 19 , 20 ]. Also, where the screening test is inconclusive, a definitive diagnosis through invasive tests, such as amniocentesis or chorionic villus samples (CVS) and karyotyping may be necessary [ 7 , 19 , 20 ], with additional cost and potential risk of miscarriage or maternal complications.

Additional non-invasive tests include screening for fetal cell-free DNA and RNA in maternal serum [ 20 , 21 ], where chromosomal aneuploidies such as Down’s syndrome can be identified by an abnormal ratio of different chromosomes [ 20 ]. These tests can be used to screen for several disorders [ 20 , 21 , 22 ]: a) presence or absence of male-specific (Y-chromosome) sequences may be used to assess fetal sex, useful for rare sex-linked inherited diseases that affect only one sex; b) Presence or absence of the RhD gene may be used to assed fetal RhD blood group status, which is useful for RhD-negative mothers at risk of RhD incompatibility reactions caused by RhD positive fetuses; c) presence (or absence) of corresponding sequences especially those inherited from the father of the fetus, may identify inherited genetic diseases. Prenatal screening and diagnosis may raise uncertainty. In these contexts, the options are to not get pregnant, continue a pregnancy while knowing the potential risks, terminate a pregnancy after an informed decision, or (in the case of a preimplantation genetic diagnosis), determining whether and which embryos to implant embryos or discard.

Types and implications of uncertainty posed by prenatal diagnostic procedures

Despite these potential benefits, technological advances have potential for causing more uncertainty and even harms. There is the ethical issue of the technological imperative [ 23 ], which suggests that since the technology is available, there are compelling reasons to use it, yet this needs to balanced again the patients’ best interests. Before conducting the tests, the doctors and their patients need to think through what the results might mean, and what decisions may be considered once the results become available, while considering the best interest of the unborn child as well. This standard may be difficult to apply and may not provide meaningful practical guidance in certain situations. To compound the uncertainty, it may be difficult to precisely define the ‘‘best interest’’ of an unborn child, how to determine best interests may be controversial, the nature of interests may be complex, and it is unclear what weight the best interest should have in the decision-making compared to social values [ 24 ].

Requirements for informed consent

There are additional challenges posed by this uncertainty. First, requirements for an informed consent imply that couples should have sufficient relevant information about the procedures, and that they understand potential risks and benefits, the decisions are voluntary and information on available options is discussed [ 24 ]. Where there are few genetic counselors with current information on screening protocols, it is unclear whether pregnant women are able to make informed choices about prenatal screening [ 7 , 20 , 24 ]. Where prenatal screening is part of routine prenatal care, couples may be unlikely to be offered opportunity for deliberate decisions about having prenatal screening [ 24 ]. Secondly, there is uncertainty related to what to do with the embryos that have disorders, leading to an ethical challenge of embryo wastage.

Accuracy and reliability of prenatal diagnostic procedures

There is uncertainty (and ethical issues) related to the accuracy and reliability of the tests: how good the test has to be to be used in different contexts, considering false positives, false negatives and the prevalence of the disorder under screening [ 7 , 20 ]. How much risk is the couple willing to take that the test is wrong and that they will conceive (or have) a child that might carry the genetic traits? Also, there is the uncertainty of penetrance for genetic diseases [ 7 , 20 , 24 ]. How certain must we be that the mutation will cause disease? For instance, different mutations of the cystic fibrosis gene have different risks of causing the disease, and some mutations for other diseases may cause disease at certain times (or situations) and not in others, making it difficult to predict whether a particular mutation will cause disease. This uncertainty becomes particularly important where one considers to perform an invasive test such as chorionic villus sampling and amniocentesis, which carry significant risks to the fetus or the pregnancy.

Uncertainty regarding sex selection and paternity testing

In addition, early sex identification available through the non-invasive prenatal diagnostics, may encourage sex selection by couples who would not have resorted to ultrasound or invasive tests for this purpose [ 19 ]. Use of PGT for sex selection unrelated to disease is controversial, as it leads to failure to implant normal embryos when they are found to be of the undesired sex [ 20 ]. This raises moral objections due to danger of sex discrimination. This is particularly problematic in societies which have a strong preference for boys [ 7 , 20 ]. Besides, the increased identification of fetuses with disorders, even borderline disorders, has the potential to increase numbers of pregnancy termination for medical reasons [18, 20, with potential increase in demand (from opponents of abortion) for restrictions on the women’s right to terminate pregnancy [ 7 , 20 ]. Another area of uncertainty and controversy that raises ethical concerns relates to potential use of non-invasive prenatal diagnostic for paternity testing [ 25 , 26 ]. This is ethically problematic in cases where paternity is uncertain and a woman uses results of such tests to opt for pregnancy termination [ 26 ].

Uncertainty of related to consideration of giving birth to individuals with disability

The ethical issues related to completeness, accuracy, and bias in the information communicated to couples is particularly important for a prenatal diagnosis of Down syndrome [ 27 ]. The real choice about giving birth to a child with a genetic or chromosomal disorder depends on more than the perceived availability of care and support for a child with a disability [ 27 ]. Some physicians and counselors often focus on the negative aspects of the associated disability, rather than providing all information for couples to make an informed decision [ 25 , 28 ]. Some parents may not mind having a child with the disability as long as complete information is availed to them to make informed decisions [ 25 , 28 ]. Increased testing accompanied by pregnancy terminations could potentially reduce the incidence and prevalence of some genetic or chromosomal disorders associated with disability [ 20 , 27 ]. Yet decline may negatively change public attitudes towards the hereditary disabilities specifically and all disability or handicapped in general, thereby reducing the moral worth of individuals with disability [ 25 , 28 ], especially where prenatal diagnostics are performed primarily to prevent birth of “disabled” babies [ 25 ]. This may lead to reduced understanding or support for affected individuals and their families [ 25 , 28 ].

Prenatal genetic testing at beginning of life raises controversy in certain situations. Questions arise on how bad (lethal, severe, or disabling) a condition should be in order to warrant testing. Disability communities differ regarding the ways in which they think about this question. Performing genetic testing to try to avoid a certain condition implies that the life of a person with that condition is not worth living [ 7 ]. How people think about that question depends partly on the type of condition being discussed, at what stage in the continuum from preconception to preimplantation to prenatal period the testing is done, and what test is performed. There is a big debate in the ethics community, society and popular media about the appropriateness of prenatal screening for disorders such as Down syndrome during pregnancy, and whether it's proper to take any actions to terminate pregnancies based on screening results [ 7 , 25 , 28 ]. There is also an ethically problematic issue of equity, related to access [ 20 ], as procedures may be costly to some population, especially where routine screening is not available, consequently adding to the already existing inequalities in access to care. This relates mainly to expanding testing and control over non-essential characteristics (those not required for life) in offspring. However, different individuals and communities have diverse personal, religious, ethical, and moral norms views and values, which should be respected must be given by healthcare professionals when discussing the performance of PGT for sex selection.

The uncertainty posed by mosaicism

Mosaicism describes presence of more than one type of cell in an embryo. For instance, an embryo may have some of the cells with 46 chromosomes, while other cells have 47 chromosomes, as in mosaic Down syndrome. In this condition, about 95% of affected individuals have trisomy 21 (with an extra chromosome in every cell), while 3–4% have translocation Down syndrome (where all or part of the extra chromosome-21 is attached to another chromosome), and 1–2% are mosaic (where some cells have 46 chromosomes and others 47 chromosomes). Mosaicism is usually described as a percentage; however, the percentage of mosaic cells may differ in the different tissues, implying that the percentage of mosaicism detected may depend on the tissue assessed [ 29 ]. Besides, the degree of mosaicism may vary with the stage of development at which embryo biopsy is conducted [ 30 ], as self-correction may occur as the embryo develops.

Uncertainty related to timing of prenatal genetic testing

Another area of uncertainty is when to test. Where a test can be performed at different stages of the continuum (preconception, pre-implementation, during pregnancy or postnatal), there is uncertainty about choosing the most appropriate time or tests. One may need to consider how bad (in terms of disability or life limiting) the condition be in order to warrant testing. How good should the test be? One wonders whether the stage (on the continuum) should matter. One relevant question is what types of conditions it is appropriate to test for [ 25 , 28 ]. One may consider whether the condition is lethal, serious life-limiting or just mildly disabling. One may also consider whether the medical conditions may or may not develop later in pregnancy or later in life, or whether if develops, it is life limiting, or may even never develop.

Additional uncertainty related to mandatory newborn screening

A key ethical and legal issue relates to the mandatory nature of newborn screening in some countries. It is relatively easy to justify mandatory newborn screening for conditions such as Phenylketonuria (PKU), because if the condition was identified before the baby becomes symptomatic, the baby would be treated to achieve a good outcome. The challenge is in screening for disorders where there is not enough evidence on effectiveness of the screening, and if this is mandatory, whether some form of parental consent is necessary. And one solution to address the above challenge is tiered screening, where there is mandatory screening for the conditions such as PKU (where there is good evidence to support population-wide screening and there's good treatment available for infants that are identified pre-symptomatically) and selected screening for other conditions where evidence is not as good, or where the potential benefit of identifying these babies in infancy is less clear. For the latter, parental consent may be necessary.

How to provide adequate counseling for mandatory screening presents its own uncertainty. A potential problem is that parents may lack knowledge about prenatal screening or newborn screening in general, and may be undergoing a stressful period, where it becomes difficult to fully comprehend the disclosed information and provide informed consent. While it may be a priority for prenatal screening, providing parents with information about newborn screening is not necessarily at the top of the list of what they need to know . Parents may not understand the need for screening for rare genetic disorders. Besides, even pediatricians and other healthcare providers who are caring for babies in the newborn period may have never seen many of these conditions, and do not fully understand the manifestations or health implications of these diseases. They may be unable to provide accurate information to parents when they have questions about prenatal genetic screening.

Uncertainty related to screening for late onset disorders prenatally or at birth

Additional ethical concerns relate to appropriateness of PGT or newborn screening for late-onset disorders. There may be opportunity to screen embryos during PGT (as in Huntington’s disease) or in the newborn period (such as for Pompe disease) [ 19 ] and other diseases in which a child can become symptomatic later on in life. Some affected individuals may have markers for diagnosis of the disease, but they may never become symptomatic. This raises ethical issues related to how much counseling for parents is adequate to enable them understand these complexities. The number of genetics professionals (both geneticists and genetic counselors) may not be adequate to cover the increased demand for services for newborn screening panels. This might delay diagnosis for more severe early-onset diseases, as focus is shifted to diagnosis of late-onset disorders (which may not be as severe or disabling, and may never manifest clinically).

The moral significance of uncertainty

Decisions taken after PGT should put in consideration the implication of mosaicism at a given stage of development when biopsy is undertaken, the risk of the findings as to how they may affect clinical outcomes, financial implications and ability to counsel patients [ 31 , 32 ]. Ultimately, the testing should be individualized to the needs of the couples. The moral significance of uncertainty is based on the concern whether moral judgment is accomplished by intuition or conscious reason [ 33 , 34 ]. The extent to which conscious reasoning, as opposed to intuition, plays a role in determining moral judgment, and whether moral judgment is a controlled or an automatic process are issues relevant to uncertainty and ambiguity [ 33 ]. And this uncertainty is related to four major concerns about prenatal screening [ 34 ]. First, autonomy and respect for persons, the future autonomy of the child to determine whether to have the test is removed. Nonmaleficence, from potential harm to the child, and to the family, in screening for these late-onset disorders. An asymptomatic child that is screened and then confirmed positive for one of these disorders (or family) may suffer anxiety or stigma and discrimination.

There is tremendous potential benefit in prevention of hereditary genetic or chromosomal disorders [ 34 ]. The potential benefit for screening for late-onset disorders is to avoid diagnostic challenges which may occur when the affected individual develops unclear symptoms, leading to several diagnostic tests in order to help ascertain the cause of the patients’’ symptoms [ 34 ]. The counter argument is that it is ethically challenging to justify creating and destroying embryos for the purpose of testing for late-onset conditions, some of which may never manifest or occur much later in life [ 34 ]. Besides, parents’ options include whether or not to transfer all ‘unaffected’ embryos: noncarriers as well as carriers, yet carrier embryos are likely to develop into healthy individuals and selecting against them potentially stigmatizes carrier status [ 34 ]. If the carriers are at risk of developing some symptoms of the disorder, there is some justification to discard carrier status embryos [ 34 ]. For disorders whose effective treatment is not available, the benefit is unclear, and for screening geared primarily for sex selection for no medical reason, it is ethically debatable whether this may be justifiable [ 34 ]. Another area of concern is justice related to access to care and human resources needed to implement the testing.

Implications for the need for decision-support tools for patients and clients

Availability and use of prenatal diagnostic procedures have potential to improve the quality of prenatal care, prevent hereditary genetic and chromosomal disorders and improve parental reproductive choices and decision-making. This has several implications for decision-making support [ 33 , 34 ]. First, there should be clear information packages to address uncertainty during counseling. The different techniques not only have false-positive rates, but also may be deleterious to embryo development, leading to miscarriage [ 33 ]. Secondly, should be clearly specified care pathways to aid decision-making, as well as practice guidelines and oversight to address the uncertainty parents and clinicians face when they use these technologies. Health professional education and public engagement efforts are critical for quality assurance in addressing the challenges and opportunities related to decision-making for using prenatal diagnostic procedures. Thirdly, the application of the new and higher performance technologies leads to identification of genetic variations, the biological and clinical importance of which may not sufficiently understood. Fourthly, there is also need to develop less invasive procedures to avoid embryo damage and wastage. Lastly, client concerns and values need to be incorporated in the decision-making process.

PGT and other prenatal diagnostic procedures have potential for creating uncertainty as well as being used for ethically controversial conditions. Therefore, there is need for regulation and oversight, with clear protocols and guidelines of when and how different procedures could be performed as well as implications of the different decisions that patients may make. Professional self-regulation is preferable, and health professions’ societies must provide more definitive guidelines in order for regulation to be effective. Different health professionals, including infertility specialists, physicians, and embryologists, obstetrician-gynecologists, geneticists, and genetic counselors, need to meet, map the landscape for prenatal diagnostic testing and develop consensus-based guidelines on prenatal diagnostic procedures, based on the perceived needs of their clients, need to advance the professions and social values of their communities, in order to address the uncertainty related to prenatal diagnostic procedures.

Availability of data and materials

Not applicable.

Abbreviations

Anti-Mullerian Hormone

Chorionic Villus Sampling

Deoxyribonucleic acid

Human Leukcocyte antigen

In vitro fertilization

Polymerase Chain reaction

Pre-implantation genetic diagnosis

Pre-implantation genetic testing

Rhesus Disease

Ribonucleic acid

Preimplantation genetic screening

Phenyl ketonuria

Wilson RD, Gagnon A, Audibert F, Campagnolo C, Carroll J; Genetics Committee. Prenatal Diagnosis Procedures and Techniques to Obtain a Diagnostic Fetal Specimen or Tissue: Maternal and Fetal Risks and Benefits. J Obstet Gynaecol Can. 2015 37(7):656–668.

International Glossary of Infertility and Fertility care. https://www.fertstert.org/article/S0015-0282(17)30429-6/pdf . Accessed 15 May 2019.

Sullivan-Pyke C, Dokras A. Preimplantation genetic screening and preimplantation genetic diagnosis. Obstet Gynecol Clin North Am. 2018;45(1):113–25.

Article   Google Scholar  

Ethics Committee of the American Society for Reproductive Medicine. Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion. Fertil Steril. 2018;109(6):989–992.

Genoff Garzon MC, Rubin LR, Lobel M, Stelling J, Pastore LM. Review of patient decision-making factors and attitudes regarding preimplantation genetic diagnosis. Clin Genetics. 2018;94(1):22–42.

Article   CAS   Google Scholar  

Hershberger PE, Pierce PF. Conceptualizing couples’ decision making in PGD: emerging cognitive, emotional, and moral dimensions. Patient Educ Couns. 2010;81(1):53–62.

Benn PA, Chapman AR. Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol. 2010;22:128–34.

Lamb B, Johnson E, Francis L, Fagan M, Riches N, Canada I, et al. Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients. J Assist Reprod Genet. 2018;35(9):1605–12.

Goldman RH, Racowsky C, Farland LV, Fox JH, Munné S, Ribustello L, Ginsburg ES. The cost of a euploid embryo identified from preimplantation genetic testing for aneuploidy (PGT-A): a counseling tool. J Assist Reprod Genet. 2018;35(9):1641–50.

Han PKJ, Klein WMP, Arora NJ. Varieties of uncertainty in health care: a conceptual taxonomy. Med Decis Making. 2011;31:828–38.

Babrow AS, Kasch CR, Ford LA. The many meanings of uncertainty in illness: toward a systematic accounting. Health Commun. 1998;10(1):1–23.

van Zuuren FJ, van Schie EC, van Baaren NK. Uncertainty in the information provided during genetic counseling. Patient Educ Couns. 1997;32(1–2):129–39.

Khan CM, Rini C, Bernhardt BA, Roberts JS, Christensen KD, Evans JP, et al. How can psychological science inform research about genetic counseling for clinical genomic sequencing? J Genet Couns. 2015;24(2):193–204.

Taber JM, Klein WM, Ferrer RA, Han PK, Lewis KL, Biesecker LG, et al. Perceived ambiguity as a barrier to intentions to learn genome sequencing results. J Behav Med. 2015;38(5):715–26.

Wright CF, Middleton A, Burton H, Cunningham F, Humphries SE, Hurst J, et al. Policy challenges of clinical genome sequencing. BMJ. 2013;347:6845.

Biesecker BB, Klein W, Lewis KL, Fisher TC, Wright MF, Biesecker LG, et al. How do research participants perceive “uncertainty” in genome sequencing? Genet Med. 2014;16(12):977–80.

Wynn J. Genomic testing: a genetic counselor’s personal reflection on three years of consenting and testing. J Genet Couns. 2016;25(4):691–7.

Neal SA, Morin SJ, Franasiak JM, Goodman LR, Juneau CR, Forman EJ, et al. Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage. Fertil Steril. 2018;110(5):896–904.

Sermon K, Van Steirteghem S, Liebaers I. Preimplantation genetic diagnosis. Lancet. 2004;363:1633–41.

PHG Foundation. Towards safer, earlier prenatal diagnosis: expert recommendations http://www.phgfoundation.org/documents/212_1260287312.pdf . Accessed 15 May  2018.

Ng EKO, Tsui NBY, Lau TK, et al. mRNA of placental origin is readily detectable in maternal plasma. Proc Nat Acad Sci U S A. 2003;100:4748–53.

Lo YMD, Tein MSC, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768–75.

Hofmann B. Is there a technological imperative in health care? Int J Technol Assess Health Care. 2002;18(3):675–89.

Vanden Berg M, Timmermans DRM, ten Kate LP, et al. Are pregnant women making informed choices about prenatal screening? Genet Med. 2005;7:332–7.

Newsome AJ. Ethical aspects arising from noninvasive fetal diagnosis. Seminars Fetal Neonat Med. 2008;13:103–8.

Wagner J, Dzijan S, Marjanovic D, Lauc G. Noninvasive prenatal paternity testing from maternal blood. Int J Legal Med. 2009;123:75–9.

Skotko BG. With new prenatal testing, will babies with Down syndrome slowly disappear? Arch Dis Childhood. 2009;94:823–6.

Chachkin CJ. What potent blood: noninvasive prenatal genetic diagnosis and the transformation of modern prenatal care. Am J Law Med. 2007;33:9–53.

Newson AJ, Leonard SJ, Hall A, Gaff CL. Known unknowns: building an ethics of uncertainty into genomic medicine. BMC Med Genomics. 2016;9:57.

Brezina PR, Anchan R, Kearns WG. Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences? J Assist Reprod Genet. 2016;33(7):823–32.

Palmerola KL, Vitez SF, Amrane S, Fischer CP 5 , Forman EJ. Minimizing mosaicism: assessing the impact of fertilization method on rate of mosaicism after next-generation sequencing (NGS) preimplantation genetic testing for aneuploidy (PGT-A). J Assist Reprod Genet. 2019 36(1):153–157.

Kuliev A, Rechitsky S. Preimplantation genetic testing: current challenges and future prospects. Expert Rev Mol Diagn. 2017;17(12):1071–88.

Cushman F, Young L, Hauser M. The role of conscious reasoning and intuition in moral judgment: testing three principles of harm. Psychol Sci. 2006;17(12):1082–9.

Robertson JA. Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Human Reproduction 2003; 18(3): 465–471.

Download references

Acknowledgements

The author is grateful to the Welch Library for access to the e-resources of Johns Hopkins University and to the manuscript peer reviewers for their constructive comments.

The author did not receive specific funding for the writing of the manuscript. However, he benefitted from mentorship at the Johns Hopkins University Berman Institute of Bioethics, where he was funded by the Fogarty International Center of the National Institutes of Health under Award Number D4390073782. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Author information

Authors and affiliations.

Department of Obstetrics and Gynecology, Makerere University College of Health Sciences, Kampala, Uganda

Dan Kabonge Kaye

Forgarty African Bioethics Postdoctoral Fellow at Johns Hopkins Berman Institute of Bioethics and the School of Public Health, Baltimore, MD, USA

You can also search for this author in PubMed   Google Scholar

Contributions

DKK conceived the idea, conducted the background reading and literature search, reviewed the literature and drafted the manuscript. The author read and approved the final manuscript.

Corresponding author

Correspondence to Dan Kabonge Kaye .

Ethics declarations

Ethics approval and consent to participate, consent for publication, competing interests.

The author declares that he has no competing interests.

Additional information

Publisher's note.

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ . The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

Reprints and permissions

About this article

Cite this article.

Kaye, D.K. Addressing ethical issues related to prenatal diagnostic procedures. matern health, neonatol and perinatol 9 , 1 (2023). https://doi.org/10.1186/s40748-023-00146-4

Download citation

Received : 17 January 2022

Accepted : 20 January 2023

Published : 03 February 2023

DOI : https://doi.org/10.1186/s40748-023-00146-4

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Prenatal diagnostic procedures
• Preconception counseling
• Ethical issues

Maternal Health, Neonatology and Perinatology

ISSN: 2054-958X

• Submission enquiries: Access here and click Contact Us
• General enquiries: [email protected]

• Search Menu
• Advance Articles
• Clinical Case Studies
• Journal Club
• Clinical Chemistry Podcasts
• Clinical Trainee Council
• Special Issues
• Clinical Chemistry Guide to Scientific Writing
• Clinical Chemistry Guide to Manuscript Review
• Author Guidelines
• Submission Site
• Self-Archiving Policy
• Call for Papers
• Why Publish?
• About Clinical Chemistry
• Editorial Board
• Advertising & Corporate Services
• Journals on Oxford Academic
• Books on Oxford Academic

Article Contents

• Nonstandard Abbreviations
• Author Contributions
• Authors’ Disclosures or Potential Conflicts of Interest
• Research Funding
• Disclosures

Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families

• Article contents
• Figures & tables
• Supplementary Data

Erik A Sistermans, Use of Type 5 Single Nucleotide Polymorphisms Allows Noninvasive Prenatal Diagnosis for Consanguineous Families, Clinical Chemistry , 2024;, hvae040, https://doi.org/10.1093/clinchem/hvae040

• Permissions Icon Permissions

Noninvasive prenatal tests based on the presence of fetal cell-free DNA (cfDNA) in maternal plasma have only recently been developed. The tests can be divided into 2 groups, the most well-known being the detection of large fetal chromosomal anomalies, such as trisomies and structural abnormalities. This test is often referred to as noninvasive prenatal testing (NIPT), or noninvasive prenatal screening (NIPS). Although the latter name is more adequate as this test is mainly used in a screening setting, either as a first-tier test or contingent after combined testing, it is less commonly used. As the so-called fetal cfDNA is in fact derived from the placenta, and not from the fetus, confined placental mosaicism (CPM) can give false-positive NIPT results, necessitating confirmation of a high-risk result by a diagnostic invasive test. However, prenatal diagnostics based on cfDNA is possible in pregnancies where pathogenic variants are inherited from carrier parents and CPM is not a problem. This leads us to the second group of noninvasive prenatal diagnosis (NIPD), which is mainly used for monogenic disorders. In contrast to NIPT, NIPD is only offered in a few countries by a limited number of specialized laboratories. Performing NIPD is much more complex than NIPT, and the number of tests much smaller. Until now, NIPD could not be offered to consanguineous couples, as their shared genomes hampered reliable analysis.

Email alerts

• Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families

Citing articles via

• Recommend to Your Librarian
• Advertising and Corporate Services
• Journals Career Network

Affiliations

• Online ISSN 1530-8561
• Print ISSN 0009-9147
• Copyright © 2024 Association for Diagnostics & Laboratory Medicine
• About Oxford Academic
• Publish journals with us
• University press partners
• What we publish
• New features  
• Open access
• Institutional account management
• Rights and permissions
• Get help with access
• Accessibility
• Advertising
• Media enquiries
• Oxford University Press
• Oxford Languages
• University of Oxford

Oxford University Press is a department of the University of Oxford. It furthers the University's objective of excellence in research, scholarship, and education by publishing worldwide

• Copyright © 2024 Oxford University Press
• Cookie settings
• Cookie policy
• Privacy policy
• Legal notice

This Feature Is Available To Subscribers Only

Sign In or Create an Account

This PDF is available to Subscribers Only

For full access to this pdf, sign in to an existing account, or purchase an annual subscription.

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here .

Loading metrics

Open Access

Peer-reviewed

Research Article

First and second trimester ultrasound in pregnancy: A systematic review and metasynthesis of the views and experiences of pregnant women, partners, and health workers

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

* E-mail: [email protected]

Affiliation Research in Childbirth and Health Group, THRIVE Centre, University of Central Lancashire, Preston, United Kingdom

Roles Formal analysis, Investigation, Methodology, Supervision, Validation, Visualization, Writing – review & editing

Roles Investigation, Writing – review & editing

Affiliation School of Health and Community Studies, University of Central Lancashire, Preston, United Kingdom

Affiliation Applied Health Research Hub, University of Central Lancashire, Preston, United Kingdom

Roles Conceptualization, Project administration

Affiliation UNDP/UNFPA/UNICEF/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction, Department of Sexual and Reproductive Health and Research, World Health Organization, Geneva, Switzerland

Roles Conceptualization, Project administration, Writing – review & editing

Roles Conceptualization, Formal analysis, Funding acquisition, Methodology, Project administration, Supervision, Validation, Writing – original draft, Writing – review & editing

• Gill Moncrieff, 
• Kenneth Finlayson, 
• Sarah Cordey, 
• Rebekah McCrimmon, 
• Catherine Harris, 
• Maria Barreix, 
• Özge Tunçalp, 

• Published: December 14, 2021
• https://doi.org/10.1371/journal.pone.0261096
• Peer Review
• Reader Comments

The World Health Organization (WHO) recommends one ultrasound scan before 24 weeks gestation as part of routine antenatal care (WHO 2016). We explored influences on provision and uptake through views and experiences of pregnant women, partners, and health workers.

We undertook a systematic review (PROSPERO CRD42021230926). We derived summaries of findings and overarching themes using metasynthesis methods. We searched MEDLINE, CINAHL, PsycINFO, SocIndex, LILACS, and AIM (Nov 25th 2020) for qualitative studies reporting views and experiences of routine ultrasound provision to 24 weeks gestation, with no language or date restriction. After quality assessment, data were logged and analysed in Excel. We assessed confidence in the findings using Grade-CERQual.

From 7076 hits, we included 80 papers (1994–2020, 23 countries, 16 LICs/MICs, over 1500 participants). We identified 17 review findings, (moderate or high confidence: 14/17), and four themes: sociocultural influences and expectations; the power of visual technology; joy and devastation : consequences of ultrasound findings; the significance of relationship in the ultrasound encounter . Providing or receiving ultrasound was positive for most, reportedly increasing parental-fetal engagement. However, abnormal findings were often shocking. Some reported changing future reproductive decisions after equivocal results, even when the eventual diagnosis was positive. Attitudes and behaviours of sonographers influenced service user experience. Ultrasound providers expressed concern about making mistakes, recognising their need for education, training, and adequate time with women. Ultrasound sex determination influenced female feticide in some contexts, in others, termination was not socially acceptable. Overuse was noted to reduce clinical antenatal skills as well as the use and uptake of other forms of antenatal care. These factors influenced utility and equity of ultrasound in some settings.

Though antenatal ultrasound was largely seen as positive, long-term adverse psychological and reproductive consequences were reported for some. Gender inequity may be reinforced by female feticide following ultrasound in some contexts. Provider attitudes and behaviours, time to engage fully with service users, social norms, access to follow up, and the potential for overuse all need to be considered.

Citation: Moncrieff G, Finlayson K, Cordey S, McCrimmon R, Harris C, Barreix M, et al. (2021) First and second trimester ultrasound in pregnancy: A systematic review and metasynthesis of the views and experiences of pregnant women, partners, and health workers. PLoS ONE 16(12): e0261096. https://doi.org/10.1371/journal.pone.0261096

Editor: Carla Betina Andreucci Polido, Universidade Estadual de Campinas, BRAZIL

Received: September 17, 2021; Accepted: November 22, 2021; Published: December 14, 2021

Copyright: © 2021 Moncrieff et al. This is an open access article distributed under the terms of the Creative Commons Attribution License , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Data Availability: All relevant data are within the paper and its Supporting Information files.

Funding: The work was commissioned to the University of Central Lancashire by the UNDP/UNFPA/UNICEF/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction (HRP), a cosponsored program executed by the World Health Organization (WHO). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing interests: The authors have declared that no competing interests exist.

Introduction

Antenatal ultrasound is a routine and established component of antenatal care within high-income countries [ 1 ]. In low- and middle-income countries ultrasound scanning in pregnancy is more recent [ 2 ]. In many of these settings, provision is not universal [ 3 ], and it is often restricted to high level and/or private facilities, limiting access for many [ 2 , 4 ]. In 2016, the World Health Organization first recommended ultrasound as a routine aspect of antenatal care [ 5 ]. This recommendation was for one ultrasound scan before 24 weeks gestation, to estimate gestational age, improve detection of fetal anomalies and multiple pregnancies, reduce induction of labour for post-term pregnancy, and improve a woman’s pregnancy experience. Part of the rationale for the establishment of this recommendation within guidelines was to better regulate the use of antenatal ultrasound, and to increase equitable access for pregnant women in low- and middle-income settings.

For many expectant parents, antenatal ultrasound provides a positive experience [ 6 ]. Health workers value its use for gestational age estimation, multiple pregnancy identification and assessment of physiological or potentially pathological fetal growth [ 1 ]. Identification of fetal anomalies is also an intrinsic part of ultrasound examination in early pregnancy [ 1 ]. As imaging has become more sophisticated, there has been increasing potential to identify markers of uncertain significance [ 7 ]. This can bring many benefits, but it has also resulted in concerns relating to overdiagnosis as well as the psychological risks for women, birthing people, and partners when the implications of these markers are not clear [ 8 , 9 ]. Some have expressed eugenic concerns, as ultrasound-identified fetal abnormalities force parents to decide between giving birth to a child with disabilities, or termination [ 10 ], while in some social, cultural and religious contexts, termination is not an option [ 11 ]. In some social settings, ultrasound sex determination is associated with female feticide [ 12 ], and possibly sex distribution skew [ 13 ], raising moral, ethical, and gender equity issues.

Because of the rapid technical improvements in first and second trimester ultrasound, and the spread in routine use, the WHO recommended updating of their early ultrasound recommendation. This qualitative systematic review was carried out to inform the update, enabling the consideration of values and preferences, and acceptability, feasibility, and equity implications, and the opportunity to share insights into successful implementation and service provision. These considerations are integral to implementation of antenatal ultrasound where it is not yet a routine component of antenatal care, as well as the improvement of existing services.

We undertook a rapid scoping search of the existing literature but did not identify any previous systematic reviews of experiences of first and second trimester ultrasound that were suitable to inform WHO guidelines on this subject. There is one previous systematic review on experiences of antenatal ultrasound, but this was published in 2002. It did not include the perspectives of health workers, or studies from low- or middle-income countries [ 6 ].

To inform guidelines and practice in the area of first and second trimester ultrasound we aimed to examine the following questions, for maternity service users (including birth companions), health workers, policy makers and funders in all settings:

a. What views, beliefs, concerns and experiences have been reported in relation to routine ultrasound examination in pregnancy?

b. What are the influencing factors associated with appropriate or inappropriate use of routine antenatal ultrasound scanning?

Search strategy and selection criteria

We undertook a systematic review using thematic synthesis to develop our review findings and analytic themes [ 14 ]. The study protocol is registered on PROSPERO (CRD42021230926).

We undertook searches in Medline (Ovid), CINAHL, PsycINFO, and SocIndex (via EBSCO), and LILACS and AIM (via Global Index Medicus) on Nov 25th and 26th 2020, with no language or date restrictions. Additional relevant papers were identified through searching reference lists and citation searches of included studies. A log was used to record inclusion/exclusion at each stage of selection. One member of the review team (CH) undertook the searches, and de-duplication of results using both automated and manual methods in EndNote.

Inclusion criteria.

Our protocol specified searches for qualitative, survey, and mixed-methods studies. For this paper, we report on findings from qualitative studies. We included papers addressing routine use of ultrasound during antenatal care, including to detect fetal viability, gestational age, fetal growth, fetal abnormality, multiple pregnancy, and any other routine application, where this was a standard part of the routine ultrasound offer for the population in the country(ies) where the study was set.

Included participants were pregnant or postnatal women, families of such women, and related community members, antenatal health workers, managers, funders, or policy makers involved in the receipt, provision, management or funding of routine antenatal ultrasound scanning.

We included all settings (low-, high- and middle-income), and all types of health care design and provision (including public, private and mixed models of provision), and localities (hospital facilities, birth centres, or local communities).

Exclusion criteria.

We excluded papers if ultrasound was undertaken for specific indications, for example following IVF procedures, or after women’s reports of reduced fetal movements.

We excluded controlled studies, cohort studies, and epidemiological studies.

Initial screening by title and abstract was refined through blind screening 100 records in two teams to ensure agreement in the screening process. Uncertainties were discussed amongst the review team, and a further 100 hits were then screened until sufficient agreement was reached. For full text screening, batches of ten records were screened in each team until sufficient agreement was reached, after which three members of the review team (GM, SC, RM) screened the remaining records independently.

Data extraction and analysis

Studies assessed as eligible for inclusion were quality assessed [ 15 ]. Quality assessment was undertaken by GM, SC, RM and KF. SD independently assessed 10% of studies to calibrate the assessments of the teams. Very low-quality studies were logged for transparency but were not included in the analysis.

The authors name, the date, characteristics, and setting of included papers, and the key findings, were logged on the study-specific Excel file. Translation of non-English studies was carried out using Google translate.

Analytic procedure.

We initially derived review findings and overarching themes using a thematic synthesis approach [ 14 ]. We started by logging themes and findings highlighted by the authors, or, where these were not clear, reviewer generated findings from the quote material and author narratives (GM, SC, RM). As each subsequent paper was coded, themes were generated (GM, KF, SD) and entered iteratively onto a separate worksheet of the study Excel file, resulting in an initial thematic framework. The findings continued to develop as the data from each paper were added. This included looking for what was similar between papers and for what contradicted (‘disconfirmed’) the review findings. All authors involved in the primary analysis (GM, KF, SD), consciously looked for data that would contradict our prior beliefs and views.

Confidence in each finding was assessed using GRADE-CERQual [ 16 ]. Review findings were graded using a classification system ranging from ‘high’ to ‘moderate’ to ‘low’ to ‘very low’ confidence. Following CERQual assessment the review findings were grouped into higher order analytic themes and the final framework was agreed by consensus amongst the authors.

Analysis of subgroups or subsets.

Findings were logged by country income status (HIC vs LMIC), and by trimester of scan (first, second, or both). Interpretation of the findings and themes includes these subgroups where they can be clearly differentiated in the data.

Reflexive statement.

Based on our collective and individual experiences (as midwives, academics, service users, and researchers), we anticipated that the findings of our review would reveal that women and their partners generally look forward to ultrasound but may be unprepared for it to reveal abnormalities; that health workers like to use it as it gives them a sense of certainty in diagnosis; and that policy makers and funders see it as a useful source of revenue and/or of attracting women to use facilities. We maintained awareness of these prior beliefs and their potential impact on our analysis to ensure we were not over-interpreting data that supported our prior beliefs, or over-looking disconfirming data.

Of the 7076 records generated by our search,181 studies met the initial inclusion criteria to be included in our synthesis. 4656 records were excluded at the initial abstract screening stage, primarily because they were unrelated to the focus of this review. Full text screening excluded 574 studies, primarily because they did not focus on perceptions/experiences of routine ultrasound. Of the 181 studies initially identified as being eligible for inclusion, 80 were qualitative and 98 were quantitative or mixed methods studies. Due to the large number of qualitative papers identified, the decision was made to focus on the qualitative studies, and to analyse the qualitative/mixed methods studies separately. Eighty qualitative papers were therefore included before quality screening, and three more were identified from reference lists of the included papers. Following quality appraisal, 3 studies were rated D and excluded. Fig 1 outlines the screening and selection process.

• PPT PowerPoint slide
• PNG larger image
• TIFF original image

https://doi.org/10.1371/journal.pone.0261096.g001

Of the 80 studies included in our review, eight were rated A, 52 B, and 20 were rated C. They were published between 1994 and 2020 and were from 23 different countries, with 16 studies from LICs/MICs. They represent the views of over 1500 participants. The majority of papers reported the views of women or women and their partners; 19 reported provider perspectives; seven reported the views of both. There were no eligible studies that included the views of funders or policy makers. Study characteristics and quality appraisal grades are presented in Table 1 .

https://doi.org/10.1371/journal.pone.0261096.t001

Our analysis generated 17 review findings, synthesised into four over-arching analytic themes. Three findings represent the views of women and their partners only, three represent the views of healthcare professionals only, and 11 describe findings from both groups. Most were graded moderate or high confidence. The Summary of Findings and CERQual assessment are provided in Table 2 .

https://doi.org/10.1371/journal.pone.0261096.t002

Sociocultural influences and expectations. For many women, ultrasound was seen as an integral part of pregnancy and an opportunity not to be missed [ 17 – 26 ]. It offered parents the chance to ‘meet’ their baby and receive an image of the scan that they could share with friends and family [ 21 , 25 , 27 , 28 ]. Fathers’ attendance was seen as a demonstration of their commitment to their family and to facilitate involvement with the pregnancy [ 19 , 25 , 28 , 29 – 34 ]. For health workers however, these views sometimes conflicted with their role in providing a medical assessment and potential diagnosis [ 35 – 37 ]. It also sometimes conflicted with parent’s autonomy in terms of whether attending ultrasound was seen as a choice, or a decision to be made [ 17 , 18 , 21 , 22 , 38 – 42 ]. Some felt that they had not been offered an actual choice due to the routine nature of ultrasound in antenatal care, whilst others felt they should follow the authoritative advice of health professionals to ensure wellbeing of their baby [ 43 – 47 ]. In some contexts, healthcare professionals actively directed women towards ultrasound with the belief that this would inevitably result in better outcomes, and women were seen as irresponsible if they declined the offer of a scan [ 39 , 44 , 48 – 52 ].

‘Yes I’m sure it is (optional) but I think everybody else does it … well maybe not … but anyway I wouldn’t miss it .’ (Sweden) [ 25 ] ‘ I don’t know if it is good or bad . They provide it for us so we use it .’ (Australia) [ 46 ] ‘ The ones that choose not to are far more informed than the ones that choose to–because you have to go against the system .’ (Australia) [ 50 ]

In some low-income settings, access to ultrasound was limited due to lack of staff and other resources, as well as the costs incurred for women and the distance they would have to travel to attend appointments [ 53 – 56 ]. Some midwives in these contexts expressed the desire for training in the use of ultrasound, so that they could make decisions when other staff were not available [ 55 , 57 ]. There were varying beliefs in relation to the safety of ultrasound as well as the diagnosis that could be made through its use [ 19 , 34 , 41 , 49 , 52 , 58 ]. In some contexts, social and religious beliefs influenced the utility of a diagnosis if the only solution to a finding of fetal abnormality was termination [ 44 , 59 – 61 ].

‘She [pregnant woman] didn’t go for ultrasound even though she was told to do so , she refused because of the cost . ’ (Tanzania) [ 54 ] ’We perceive that it is not out our job , but our wish as midwives is to be able to perform ultrasound so that we can play a role in the mother’s care and make decisions without necessarily waiting for the availability of the doctor . ’ (Rwanda) [ 55 ] ‘In our society it would be too late to do anything about that because the woman is not allowed , according to our religion , to have an abortion . Hence there is no point in doing tests during pregnancy . It’s only a waste of time , money and effort . ’ (Israel) [ 60 ]

For some, beliefs about what was important to know during pregnancy, the value placed on ultrasound, and the impact of a diagnosis, appeared to be influenced by the vicarious experiences of friends, family and community members [ 17 , 19 , 28 , 62 , 63 ]. Information about the provision and nature of the ultrasound assessment appeared to also be mediated through community members in some cases, rather than healthcare professionals [ 29 , 64 , 65 ]. This extended to support after the scan which was often provided by friends and family [ 66 – 68 ].

’I needed help to sort out all my feelings and questions , my husband was a great support to me , but I would have liked to talk to my midwife .’ (Iceland) [ 65 ]

Finding out the fetal sex was important for respondents in a range of contexts, in terms of imaging their future baby, and practical planning [ 28 , 45 , 48 , 68 – 70 ]. However, in some circumstances, this knowledge had negative consequences [ 30 , 71 ]. As reported by both health workers and community members, this was particularly (but not only) apparent in cultures where there is a preference for male babies. In these contexts, the disclosure of female fetal sex through ultrasound could result in feticide [ 19 , 53 , 71 , 72 ]. To avoid this potential outcome there was a policy of non-disclosure relating to fetal sex to avoid this outcome [ 19 , 53 , 54 , 71 , 72 ].

‘USG is done to know the sex of the child and then abortion is done if its female child . ’ (India) [ 71 ] There is this stigma between girls and boys , in some communities they want to know if it’s a boy or a girl so that they may be able to either prevent the pregnancy from going on . ’ (Tanzania) [ 53 ] ‘… via USG people can know about sex of the baby and can get the girl child aborted . ’ (India) [ 71 ]

The power of visual technology.

For most respondents, ultrasound was seen as central to antenatal care. Women generally trusted it as a valued technology that could provide confirmation of their pregnancy and reassurance of fetal wellbeing [ 19 , 28 , 30 , 43 , 64 , 66 , 73 ]. For providers, it was an important tool, particularly for the detection and management of complications [ 39 , 43 , 53 , 57 , 74 – 76 ]. However, some respondents reported that a reliance on ultrasound results in the potential for overuse, and consequent neglect of other forms of antenatal care [ 19 , 53 , 74 ]. Some participants felt compelled towards ultrasound to visualise their baby and for reassurance [ 19 , 31 , 43 , 47 , 61 ]. For some women and healthcare professionals, ultrasound held greater value than other forms of antenatal assessment. The overuse of ultrasound was felt to result in reduced clinical skills and the potential to miss complications that were not picked up through this form of assessment [ 38 , 43 , 48 , 55 , 74 ].

‘ The scan is very necessary; there is no point in visiting the doctor without seeing the fetus and knowing how well it is doing . You would not benefit at all !’ (Syria) [ 19 ] ‘ Initially , I can say it came as an extra tool without really knowing why I have to do this . But , through getting used to the tools and doing it regularly , I came to get used to it and think right now I can say it is something we feel like we cannot do without . ’ (Kenya) [ 57 ] ‘I think that in Vietnam nowadays , obstetric ultrasound is the most important investigation to monitor the pregnancy . Some other investigations like blood test , urine test also have importance but they cannot be compared to the obstetric ultrasound . ’ (Vietnam) [ 75 ] ‘ I think it’s a very useful tool , I think we’re getting to the situation where many people can do nothing without an ultrasound , so those clinical skills have gone to a large extent .’ (Australia) [ 74 ]

For many women and healthcare professionals, the power of the ultrasound image was significant [ 32 , 32 , 43 , 50 , 54 , 66 , 73 , 75 – 77 ]. Some women appeared to lack trust that they were pregnant until they were able to visualise the image of their baby [ 21 , 25 , 44 , 52 , 68 , 72 , 78 ]. The capacity for visualisation was particularly valued by fathers and other parents [ 21 , 28 , 61 , 78 ]. The scan image offered the chance to visualise the future together as family. For some, it represented an opportunity to construct their child’s future personality and characteristics [ 32 , 21 , 73 , 79 ]. However, this sense of connection also complicated decisions around termination of pregnancy [ 18 , 30 , 34 , 68 ].

‘ Before I found out I was pregnant I’d always said if I knew I was having a handicapped baby , I’d have a termination , but then when I went for the very first scan and saw the baby moving about and saw his heart beating , I thought afterwards I don’t know whether I could do it now , because he’s alive , it’s a person .’ (England) [ 18 ]

Some providers were concerned that the clarity of the ultrasound image meant that all complications should be visible and identified [ 39 ]. Some feared the potential for consequences for both the mother, and for their professional security, if abnormalities were missed [ 36 , 39 , 76 ]. In some LMIC contexts, concerns were also expressed about the lack of appropriate training and the potential for this to result in missed complications or misdiagnosis [ 38 , 39 , 76 , 80 ]. Some respondents described professional and moral dilemmas around prioritising either mother or fetus in their clinical assessments [ 35 , 40 , 81 , 82 ], as well ethical concerns when parents made decisions that did not fit with personal or professional beliefs [ 55 , 80 , 82 ]. Some also expressed concern that women would go to any lengths to protect the wellbeing of their baby, even when this was to their own detriment [ 38 , 75 , 81 ].

‘No special training on ultrasound , that’s the limitation , that’s why you can sometimes miss some complications if I find something I am not understanding .’ (Rwanda) [ 76 ] ‘ I have never met an expectant mother who has hesitated to expose herself to something that might be harmful to her health as long as it benefits the fetus .’ (Sweden) [ 38 ]

Both joy and devastation; consequences of ultrasound findings.

The scan appointment was a source of great excitement, joy and relief for many couples, providing a chance to bond with their baby, whilst also instilling a sense of responsibility, particularly amongst fathers and other co-parents [ 19 , 21 , 32 , 41 , 45 , 68 , 77 , 83 ]. For some, it also offered the potential for choice and the opportunity to plan when complications were detected [ 22 , 68 , 84 , 85 ]. However, for many, the identification of abnormalities was completely unexpected [ 17 , 18 , 20 , 24 , 65 , 69 , 73 , 80 , 86 – 88 ]. Some reported deep shock and distress on hearing this news [ 17 , 65 , 67 , 69 , 73 , 86 – 89 ]. Both service users and healthcare professionals reflected on how this shock could be compounded by couples’ expectations that the scan appointment is a happy event that would provide confirmation of wellbeing [ 24 , 36 , 65 , 83 ]. The difficulty in getting the balance right in preparing couples for potential consequences of the scan was also discussed by healthcare professionals. Some felt that they lacked time to do this, amongst all the other issues to be discussed in an appointment, and they struggled to get the balance between discussing risk and maintaining a sense of normality prior to the scan [ 27 , 37 , 90 ].

… it’s making sure that they know enough but not frightening them or making them feel very negative about the pregnancy … not put too much emphasis on the possibility of problems . ’ (England) [ 27 ] ‘We were so naive . We thought we were going to see the baby and get a nice photo .’ (Canada) [ 24 ] “ It was a shock like this , because what we expect is that it will be everything perfect ” (Brazil) [ 69 ] ‘You come to find out the sex of the baby and have the bomb dropped on you . ’ (USA) [ 87 ]

Uncertain findings that could, but may not, indicate abnormality, were particularly difficult for many couples, resulting in feelings of having lost their pregnancy, and a shift to a new tentative, risky state [ 18 , 20 , 29 , 91 ]. Some women reported detaching themselves from their pregnancy and/or baby while also experiencing constant worry in relation to their baby’s wellbeing [ 17 , 18 , 22 ]. This state persisted into the long term for some, even after a follow-up diagnosis that all was well [ 18 , 20 , 91 ]. In some cases, this concern persisted even into infanthood, with, at the extreme, the decision not to pursue previously planned future pregnancies [ 18 , 20 , 91 ]. Some health professionals were acutely aware of the impact of uncertain findings on parents, resulting in dilemmas around whether these should be disclosed [ 36 , 74 , 81 ]. Parents were also conflicted about the benefits versus the harms of disclosing these findings [ 17 , 29 ]. Some expressed regret in retrospect about the negative impact on their pregnancy [ 20 , 87 , 65 , 67 ].

‘ Because of this I wouldn’t have a third child … I’m not putting myself through this stress again ever , and I would have gone on to have a third one . We’re stopping at two .’ (England) [ 18 ] ‘ The more you see sometimes the more uncertain things get . And you can ruin a pregnancy quite a bit like that . So I’m not sure whether it’s always good .’ (Australia) [ 74 ]

The significance of relationship in the ultrasound encounter.

Women and partners expressed a desire for scan providers to recognise the unique nature of the scan experience for them, to make them feel welcome, and to provide information and the opportunity to ask questions [ 21 , 22 , 25 , 76 , 65 , 88 ]. Their actual experiences ranged from health workers being cold, disinterested, and lacking time to provide information, to those who were warm and engaging, and actively fostered questions and interest in the scan [ 18 , 19 , 22 , 72 , 80 , 92 ]. In some contexts, women reported that they were unable to ask questions and that their experience was completely in the hands of the healthcare professional [ 19 , 92 ]. Some women and their partners reported being completely excluded from their scan experience, unable to see the image of their baby, and left in silence to guess through body language what might be happening [ 18 , 19 , 22 , 87 ].

‘ He was staring for a long time at the screen . You see he is very good . He keeps looking [she waves as if she is reading from a book] , and he keeps explaining . He told me about the [amniotic fluid] . My previous doctor was different . She does the scan very quickly and tells you : ‘Hey stand up… you have nothing’ and that’s all . I tell you , I felt the difference between those two doctors .’ (Syria) [ 19 ]

For some health workers supporting women through difficult findings was a rewarding aspect of their role; but they expressed the desire for more training in the communication of abnormal results, as well as more professional support to confirm findings [ 36 , 37 , 93 – 95 ]. A lack of time to form relationships and properly communicate results meant that some providers felt the need to distance themselves, in order to protect their own emotions and to enable them to perform consecutive scans within a limited time period [ 36 , 90 , 95 ].

‘ It’s the responsibility of being alone in such a small place , I’m the only one looking . . . I miss a colleague , so I could say “Could you take a look with me , let’s discuss this together .’ (Norway) [ 95 ] ‘You’ve got to protect yourself , you’ve got to … not harden your heart , but you do have to protect yourself and not get too emotionally involved , because otherwise you wouldn’t survive very long in our job . ’ (England) [ 36 ]

In 2019, the WHO maternal and perinatal health steering group prioritised updating their early ultrasound scan recommendations [ 5 ]. This systematic review informs the subsequent recommendations and will inform living guideline updates of this recommendation [ 96 ]. The potential drivers for appropriate or inappropriate use of ultrasound were captured in the four study themes.

In line with other studies [ 6 ], the experience of providing or receiving ultrasound was generally seen as positive in our analysis [ 21 , 25 , 34 , 38 , 39 , 41 , 97 ], generating high demand for scans [ 19 , 39 , 43 , 49 , 50 , 55 , 64 , 74 ], but the consequences of adverse findings was sometimes devastating [ 18 , 20 , 50 , 65 , 67 , 73 , 74 , 87 ]. Importantly, in this review, we found that even when an initial concern was later ruled out, there were very significant long-term adverse consequences for some service users [ 17 , 18 , 20 , 67 , 91 ]. Respondents also reported overuse, with implications for the provision of other antenatal assessments and potential loss of clinical skills [ 19 , 38 , 48 , 53 , 55 , 74 , 82 ]. This reinforces previously published survey data from a range of settings [ 98 – 100 ].

Provider attitudes and behaviours were influential in the service user experience [ 18 , 19 , 21 , 22 , 72 , 86 , 88 ], as were local social norms [ 18 , 21 , 25 , 34 , 41 , 52 , 58 , 60 , 61 ] and access to follow up investigations and support [ 21 , 22 , 67 , 86 , 87 ]. Providers reported concerns around missing important features of the scan [ 38 , 39 , 75 , 96 ], and a lack of sufficient time and training to appropriately carry out ultrasound assessments [ 36 , 38 , 76 , 90 , 95 ].

Previous survey research has found mixed evidence about the impact of ultrasound screening on maternal anxiety [ 101 ]. Our data suggest possible drivers for the varying perceptions of ultrasound screening. The power of the visual in making the fetus ‘real’ is evident in our analysis [ 21 , 23 , 28 , 32 , 35 , 43 , 44 , 50 , 73 ], reinforcing the validity of concepts of what has been termed the ‘ tentative pregnancy’ , in which women put their sense of being pregnant on hold until they have visual evidence of the fetus, and of its wellbeing [ 102 ]. Our data show that visual markers with unknown provenance or meaning can be unsettling for health workers as well as for service users [ 17 , 18 , 20 , 38 , 50 , 74 , 81 ]. The value of diagnosing abnormality was less clear in contexts where termination was not an option [ 58 , 60 , 61 ]. The critical, ethical and equity issue of female feticide reported in some settings underpins growing concerns about sex selection, linked to a much lower female-male sex ratio than would be expected in some countries [ 13 , 68 , 69 , 103 ].

Our findings raise questions about the utility of ultrasound in pregnancy as a screening tool in settings where the implications of features on the scans are not always understood by practitioners or service users [ 100 , 104 – 107 ], and/or if there are no effective follow up, treatment, or solution to some ultrasound findings [ 108 – 110 ]. They raise concerns about the use of ultrasound as a deliberate ‘draw’ to bring women into antenatal care, if the consequence is overuse by undertrained staff, without time to undertaken the scan effectively, including provision of tailored information and psychosocial support where needed; and without effective, affordable, equitable referral pathways.

The strengths of this review include the comprehensive search that was not restricted by language or date, and the inclusion of 80 qualitative studies covering countries from most regions of the world. Fourteen of the 17 review findings were assessed as high or moderate confidence evidence using the GRADE CERQual approach [ 16 ]. We have included the experiences and perspectives of women and their partners, as well as health workers, from low-, middle- and high-income countries. Limitations include that we were unable to distinguish between first and second trimester ultrasound in our findings, as the findings were not clearly separated, or they were similar in both trimesters. We were also unable to include the views of policy makers or funders, as our search did not retrieve any eligible studies that included this perspective. Furthermore, many of the findings relate to identification and diagnosis of abnormality, rather than to assessment of gestational age, fetal growth, or multiple pregnancy. The majority of studies in our review are from high-income countries, which was anticipated, but the inclusion of more studies from low-income settings may have provided further implications for the use of ultrasound services in this context. Thirteen of the included studies were from the CROss-Country Ultrasound Study (CROCUS). However, these studies explored the views of both providers and service users, from a number of different low-, middle-, and high-income countries.

This review offers a critical insight into how countries can introduce and maintain optimal routine antenatal ultrasound services. The findings reinforce the psychological and emotional benefits of such services from the point of view of most women and their partners, and the clinical benefits as perceived by service providers. However, there are implications for implementation in settings where antenatal ultrasound is not yet a routine component of antenatal care, and improvements that can be made in other settings where use of this technology is already established. In all settings, and particularly those with restricted resources, adequate education and training in both the use of obstetric ultrasound and in positive interactions with service users is essential, as well the allowance of sufficient time to undertake the scan effectively and with attention to the needs of the parents. Mitigation against overuse is important, to ensure that the use of ultrasound is appropriately balanced with the provision of expert clinical antenatal care. The potential for, and consequences of fetal sex disclosure must also be considered, especially in contexts where there is sociocultural bias towards male sex. Improvements can be made in all settings to ensure that women and their partners make autonomous informed decisions relating to the uptake of antenatal ultrasound; that they are adequately involved during the scanning procedure; and that information relating to the results is provided in a timely and supportive manner.

Future research should consider the ways in which ultrasound might be implemented to ensure equity of access, follow up, and longer term social and psychological support where this is needed, so that the positive aspects are maintained, while limiting the potential for overuse and for adverse impacts. There is a need to determine what is necessary and optimal to disclose with regard to markers of unclear significance and to consider how couples can be optimally supported through uncertain findings, and through to future reproductive decision making. Consideration should be given to the whole maternity and health care system into which ultrasound is introduced. Research into the use of portable ultrasound may be relevant for all settings, but particularly within LMICs, where this may be a requirement for rural and remote provision of ultrasound. This would require the ability to produce scan images of sufficient quality, as well as consideration of the findings of this review.

Supporting information

S1 checklist. prisma 2020 checklist..

https://doi.org/10.1371/journal.pone.0261096.s001

S1 Table. Search strategy.

https://doi.org/10.1371/journal.pone.0261096.s002

• View Article
• PubMed/NCBI
• Google Scholar
• 5. World Health Organisation. WHO Recommendations on Antenatal Care for a Positive Pregnancy Experience; 2016.
• 102. Rothman BK. The Tentative Pregnancy: Prenatal Diagnosis and the Future of Motherhood. Penguin Books; 1987.

Prenatal Screening and Diagnostics

• • Tests that can provide valuable information about a baby's health
• • Detects possible birth defects or genetic disorders
• • Different screening tests are performed at certain time points during the pregnancy
• • Involves Laboratory Medicine, High-Risk Pregnancy Program, and Prenatal Genetic Diagnosis Program
• Prenatal Testing
• First Trimester Screening
• Prenatal Ultrasound Scan
• Prenatal Care
• Prenatal Genetics

What is prenatal screening?

What is the benefit of prenatal testing, what is a prenatal cell-free dna (cfdna) screening test, which tests are performed to determine potential birth defects, who is first-trimester risk assessment for, what happens at a first-trimester risk assessment, what makes yale medicine's approach to prenatal screening unique.

Pregnant and expecting mothers have the opportunity to learn a lot about their unborn child's health with today's genetic screening and diagnostic tests. Prenatal genetic testing allows the expectant mother and her health care team to provide the best health care for the baby. At Yale Medicine, prenatal screening and diagnostic tests are completed in a clinical chemistry lab. Scientists and researchers work with doctors caring for expecting mothers to help monitor pregnancies and ensure that mothers and their loved ones are identifying any possible challenges early. 

"One of the important distinctions to make is whether the test is for screening or diagnosis," says Yale Medicine's  Katherine Harper Campbell, MD, MPH , medical director of the Yale Medicine's Maternal-Fetal Medicine section. A screening test allows the mother and her care team to know if a baby has a higher risk of developing a condition, Dr. Campbell explains. "A diagnostic test is more invasive and can convey a clear 'yes' or 'no' about a condition or disease a baby has," Dr. Campbell says. 

At Yale Medicine, a team of experts in diverse areas, including ultrasound, fetal care and genetic counseling, work together to provide the highest level of personalized care for all expectant mothers. 

By taking biochemical and ultrasound measurements, physicians can identify pregnancies at a serious risk of birth defects. With the results, healthcare providers can calculate specific risks of Down’s syndrome, a genetic disorder that can lead to mild to severe intellectual disability and occurs in about 1 in 700 infants. A test is also possible for Trisomy 18, a severe genetic disorder, as well as spinal birth defects.

Prenatal testing involves both screening tests and diagnostic tests. Screening tests are not diagnostic. They can provide information regarding the risk of a baby having a certain disorder or condition. Only diagnostic tests are definitive and can identify if a baby does have a birth defect.

The tests can be especially helpful for pregnant women who are older, as the results can help them to decide whether to have further diagnostic testing relatively early in their pregnancies. Risk assessment includes not only blood test results and ultrasound measurements, but also incorporate factors such as age and ethnicity to determine risk of pregnancy abnormalities.

"We also recommend that expectant mothers undergo carrier screening for the status of any common recessive genetic diseases, including cystic fibrosis, spinal muscular atrophy and Fragile X syndrome," Dr. Campbell says. The best time for carrier screening is prior to conception or early in the pregnancy. 

This is a blood test that can determine the sex of the baby and provide information regarding the risk of a child having a chromosomal disorder. This test is recommended for women who are at least 10 weeks pregnant. "The biggest appeal of this test is that it can be done from a simple blood sample," Dr. Campbell says. 

The following are prenatal tests frequently performed at Yale Medicine. Speak with your doctor about potential false-positive results.

• First-Trimester Screen (nuchal translucency, hCG, and PAPP-A) : This test is usually performed during weeks 11-13 of pregnancy. It's a noninvasive evaluation combining a mother's blood screening with an ultrasound of the fetus. The test includes nuchal translucency, a portion that can help discover other potential abnormalities, including heart disorders. Primarily, the test is for chromosomal abnormalities, including Down syndrome or Trisomy-18.
• Chorionic Villus Sampling (CVS) : This test can be administered during weeks 10-13 of pregnancy. A sample of tissue is taken from the placenta and evaluated to identify chromosomal abnormalities and other inherited disorders, including Down syndrome and cystic fibrosis.
• Second-Trimester Quad Screen (AFP, hCG, Estriol, Inhibin-A), Integrated Screens : This screen can be done during weeks 16-18 of pregnancy. This blood test measures levels of alpha-fetoprotein (AFP), a fetus-produced protein; human chorionic gonadotropin (hCG), a hormone made in the placenta; estriol, an estrogen formed by the mother and the placenta; and inhibin-A, a protein produced in the placenta and in the ovaries. It tests for Down syndrome, Trisomy-18, and other chromosomal abnormalities. It can also help evaluate the chance for neural tube defects, such as spina bifida, and abdominal wall defects, such as omphalocele.
• Amniocentesis (also referred to as amniotic fluid test or AFT) : This diagnostic test is performed during weeks 15-20 of pregnancy. A small amount of amniotic fluid is sampled from the amniotic sac that surrounds the fetus.

The first trimester lasts between weeks 1-12 and all pregnant women should consider screening tests during this time. Every baby has a tiny risk of having Down syndrome—even babies of two young parents.

Noninvasive screening methods are used, including ultrasound and blood analysis. Blood is typically drawn before the patient’s appointment, so expecting mothers can receive results immediately.

The quad screen, also called the quadruple marker test or second-trimester screen, is recommended for women between 15 and 20 weeks of pregnancy to measure serum alpha-fetoprotein (AFP) and determine risk for open fetal spinal defect (or spina bifida).

Through our epidemiological monitoring program, we share data with obstetricians and physicians and work closely with them to track performance. We monitor trends in overall test results and review them with our clinicians every quarter to ensure that pregnant patients are receiving the best possible care, as well as the most up-to-date prenatal testing.

Academia.edu no longer supports Internet Explorer.

To browse Academia.edu and the wider internet faster and more securely, please take a few seconds to  upgrade your browser .

Enter the email address you signed up with and we'll email you a reset link.

• We're Hiring!
• Help Center

Factors Affecting Improved Prenatal Screening: A Narrative Review

2015, Global Journal of Health Science

Related Papers

The Journal of Obstetrics and Gynecology of India

Hend Shalaby

Women's reproductive health

Michele Hoffnung

Nature Reviews Genetics

Antina De Jong

European Journal of Human Genetics

Fiona Miller , Robin Hayeems

Millenium - Journal of Education, Technologies, and Health

Dirce Guilhem

Wahied Khawar Balwan

Prenatal Diagnosis means diagnosis before birth. The fundamental philosophy of prenatal diagnosis is to provide reassurance to couples at risk that they may selectively have unaffected children even if their perspective risk for having defective offspring might be unacceptably high. The incidence of birth defects or genetic disorders in pregnancy is approximately 3%. Some will be found to have congenital or genetic defect during childhood or early adulthood. Recent advances in technology have enabled the development of a wide range of methods for prenatal diagnosis. The desire of every couple is to have a ‘perfect’ healthy normal baby. Prenatal testing and its perceived benefits have been in focus for a long time. There has been widespread debate and passionate arguments on both sides. In India, where the law allows termination of pregnancy before 20 weeks, there are several prenatal tests that are available only after 20 weeks. This dichotomy produces considerable anxiety and stres...

Prenatal Diagnosis

Jorge Arturo Burgos

Journal of Clinical Nursing

kafiye Eroğlu

Talya Miron-shatz

STUDY QUESTION: Do clinicians manage pregnancies conceived by assisted reproductive technologies (ART) differently from spontaneous pregnancies? SUMMARY ANSWER: Clinicians' decisions about prenatal testing during pregnancy depend, at least partially, on the method of conception. WHAT IS KNOWN ALREADY: Research thus far has shown that patients' decisions regarding prenatal screening are different in ART pregnancies compared with spontaneous ones, such that ART pregnancies may be considered more valuable or 'precious' than pregnancies conceived without treatment. STUDY DESIGN, SIZE AND DURATION: In this cross-sectional study, preformed during the year 2011, 163 obstetricians and gynecologists in Israel completed an anonymous online questionnaire. PARTICIPANTS, SETTING, METHODS: Clinicians were randomly assigned to read one of two versions of a vignette describing the case of a pregnant woman. The two versions differed only with regard to the method of conception (ART; n = 78 versus spontaneous; n = 85). Clinicians were asked to provide their recommendations regarding amniocentesis. MAIN RESULTS AND THE ROLE OF CHANCE: The response rate among all clinicians invited to complete the questionnaire was 16.7%. Of the 85 clinicians presented with the spontaneous pregnancy scenario, 37 (43.5%) recommended amniocentesis. In contrast, of the 78 clinicians presented with the ART pregnancy scenario, only 15 (19.2%) recommended the test. Clinicians were 3.2 (95% confidence interval [CI]: 1.6-6.6) times more likely to recommend amniocentesis for a spontaneous pregnancy than for an ART pregnancy. LIMITATIONS AND REASONS FOR CAUTION: The study is limited by a low response rate, the relatively small sample and the hypothetical nature of the decision, as clinician recommendations may have differed in an actual clinical setting. WIDER IMPLICATIONS OF THE FINDINGS: Our findings show that fertility history and use of ART may affect clinicians' recommendations regarding amniocentesis following receipt of screening test results. This raises the question of how subjective factors influence clinicians' decisions regarding other aspects of pregnancy management. STUDY FUNDING AND COMPETING INTEREST: There was no funding source to this study. The authors declare no conflicts of interest.

RELATED PAPERS

Renato de Mello

Vanessa Marcato Fernandes

Oecologia Brasiliensis

Joao Paulo Machado Torres

Hasibul Hasan

Jurnal Penelitian Perawat Profesional

Ni'ma Nabila Putri

YMER Digital

Seema Badiger

Javier Flores

International Journal of Advanced Computer Science and Applications

farhan sahito

Bertrand Neveu

Procedia - Social and Behavioral Sciences

stoica mihaela

Revista Vértices

Luciana Machado-Costa

Water Supply

Vibhanshu Kumar , Amit Raj Topno

Paul Barrena

NeuroToxicology

Margaret Craig-schmidt

TELKOMNIKA (Telecommunication Computing Electronics and Control)

Koyeng Shop

International Journal of Molecular Sciences

Agnieszka Białek

Nature communications

santi gonzalez

Journal of Gastrointestinal Cancer

haseeb wani

Jurnal Indonesia Sosial Teknologi

Dino Erivianto

IJIRAE:: AM Publications,India

IJIRAE Engineering Journals

Georgetown University in Qatar

Danyel Reiche

Roberta Angelico

Journal of Cardiovascular Magnetic Resonance

Kevin Johnson

Merhaba Şehir Dergisi

Dr. İbrahim Büyükeken

See More Documents Like This

RELATED TOPICS

•   We're Hiring!
•   Help Center
• Find new research papers in:
• Health Sciences
• Earth Sciences
• Cognitive Science
• Mathematics
• Computer Science
• Academia ©2024

Essay on Prenatal Screening Tests

Every parent, regardless of biological background, has a strong desire for a healthy child. However, abnormalities during fetus growth have become a common phenomenon due to physical, chemical, and radiation factors. Biological factors such as genetic mutation, which causes increased mental retardation and abnormal body growth, bring trouble to the child’s future growth and development. Scientific innovations and modern technologies in the medical field have developed different screening techniques to detect fetus abnormality before baby delivery. Blood testing and ultrasound techniques of prenatal screening tests are essential in determining blood type, Rh factor, and fetus abnormality, although such screening tests can place a pregnancy at a high risk of infection, premature rupture of membranes, bleeding, and even loss of the pregnancy.

Prenatal screening such as blood and ultrasound tests helps detect the blood type and Rh factor’s compatibility of the mother and the fetus. Blood testing prevents pregnancy complications caused by an antigen-antibody reaction of the Rh factors group of the mother and that attached to the fetus, which can result in fetus health complications such as hemolytic anemia (Nshimyumukiza et al. 12). Besides, blood testing helps in detecting blood-borne diseases such as Hepatitis B, HIV, and Rubella. Ultrasound can help in determining the growth and development of a fetus during pregnancy. According to Chitty medical experts can use Ultrasound to detect structural defects such as anencephaly and spinal Bifida, cleft lip, congenital heart, kidney malformations, and gastrointestinal defects. When some health complications are detected through prenatal screening tests, immunosuppressed drugs can help boost the fetus’s immune system.

Prenatal testing comes with more genetic risks due to its invasive nature. Blood and Ultrasound tests can place a pregnancy at a high risk of premature rupture of membranes, loss of the pregnancy, excessive bleeding, and infections. A research study conducted on the effects of prenatal screening tests among Latino Americans women found that prenatal testing may cause increased stress and anxiety among parents if abnormalities pose significant risks to the pregnancy (Chitty et al. 161). Parents may feel angry, anxious, guilty, or depressed about their prenatal results. In some instances, prenatal testing such as blood testing can create increased tension and negative relationship because the results can reveal unknown information about family identities. Prenatal testing procedures that require a buccal smear or blood sample carry real risks of miscarriage since it involves extraction of amniotic fluid sample around the fetus.

To have or not to have prenatal tests wholly lies on the mother’s decision. Nshimyumukiza et al., denotes that women may decide not to have prenatal tests because they may not get adequate information about prenatal testing, particularly invasive tests that are likely to harm the fetus. Some women may skip prenatal tests after learning about the risks such as premature rupture of membranes, loss of the pregnancy, excessive bleeding, and infections. Prenatal testing may jeopardize people’s physical health, privacy, and financial well-being.

In summary, prenatal testing techniques such as blood and Ultrasound tests provide a suitable background for understanding fetus blood type, Rh factor, and other abnormalities—that may put the future of mother and fetus at a higher risk. However, some of the risks associated with prenatal testing, such as loss of the pregnancy, excessive bleeding, and infections, can make a woman have a false impression and negative attitude towards prenatal screening tests. Medical experts need to provide suitable answers about the importance of having prenatal tests to help parents better decide whether or not to have prenatal screening tests.

Works Cited

Chitty, Lyn S., Louanne Hudgins, And Mary E. Norton. “Current Controversies in Prenatal Diagnosis 2: Cell‐Free DNA Prenatal Screening Should Be Used to Identify All Chromosome Abnormalities.”  Prenatal Diagnosis  38.3 (2018): 160-165.

Nshimyumukiza, L., et al. “Cell‐Free DNA Noninvasive Prenatal Screening for Aneuploidy Versus Conventional Screening: A Systematic Review of Economic Evaluations.”  Clinical Genetics  94.1 (2018): 3-21.

Cite this page

Similar essay samples.

• Essay on America Global Position and Foreign Policy
• Essay on Alibaba and the Analytics’ Translator
• A discussion of value added with specific reference to the BT Group
• Root Cause Analysis and Safety Improvement Plan
• Effect of stem cell-derived exosome on skin ageing
• Contemporary Methods in English Language Studies

We use cookies to enhance our website for you. Proceed if you agree to this policy or learn more about it.

• Essay Database >
• Essays Examples >
• Essay Topics

Essays on Prenatal Testing

3 samples on this topic

The array of written assignments you might get while studying Prenatal Testing is stunning. If some are too bewildering, an expertly crafted sample Prenatal Testing piece on a related subject might lead you out of a dead end. This is when you will definitely acknowledge WowEssays.com ever-widening catalog of Prenatal Testing essay samples meant to spark your writing enthusiasm.

Our directory of free college paper samples showcases the most bright instances of high-quality writing on Prenatal Testing and relevant topics. Not only can they help you develop an interesting and fresh topic, but also demonstrate the effective use of the best Prenatal Testing writing practices and content structuring techniques. Also, keep in mind that you can use them as a trove of dependable sources and factual or statistical data processed by real masters of their craft with solid academic backgrounds in the Prenatal Testing field.

Alternatively, you can take advantage of practical write my essay assistance, when our experts provide a unique example essay on Prenatal Testing tailored to your individual instructions!

Expertly Written Essay On Prenatal Screening To Follow

Prenatal Testing and Screening

Prenatal Genetic Screening and Diagnostic Testing: Assessing Patients' Knowledge, Clinical Experiences, and Utilized Resources in Comparison to Provider's Perceptions

Arlin delgado.

1 Department of Obstetrics and Gynecology, University of South Florida Morsani College of Medicine, Tampa, Florida

Jay Schulkin

2 Department of Obstetrics and Gynecology, University of Washington School of Medicine, Seattle, Washington

Charles J. Macri

3 Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, The George Washington University School of Medicine and Health Sciences, Washington, Dist. of Columbia

Objective  This survey study aimed to assess patient knowledge, clinical resources, and utilized resources about genetic screening and diagnostic testing.

Study Design  A one-time anonymous paper survey was distributed to 500 patients at a major urban obstetrics and gynecology department, and an online survey was sent to 229 providers. Descriptive statistics and chi-squared analyses were performed.

Results  In all, 466 of 500 patient surveys were completed, and 441 analyzed (88.2% response rate). Among providers, 66 of 229 (29.0% response rate) responded. Patients were on average 32 years old, 27 weeks pregnant, and most often reported a graduate degree level of education (47.4%). Over 75% of patients reported accurate knowledge of basic genetic statements. Patients reported that discussing screening and diagnostic testing with their provider was significantly associated with properly defining screening and diagnostic testing ( p  < 0.001). Less than 10% of patients reported providers distributing web/video links, books, or any other resource; however, patients most often independently accessed web links (40.1%).

Conclusion  Our findings suggest a positive impact from patient and provider discussions in office on patient knowledge and understanding. Discrepancies between educational resources distributed in the clinic and individually accessed resources highlight possible areas of change. Future work should evaluate and implement differing resources to increase patient knowledge.

The last two decades have ushered in an explosion of new genetic screening and diagnostic testing that provides patients with more accurate and specific information about their health. Due to these advances, prenatal genetic screening and testing has become increasingly common in obstetric health care with multiple new recommendations by the American College of Obstetricians and Gynecologists (ACOG) 1 2 3 4 to guide providers. Furthermore, these novel technological advances in genetic screening require well-informed patients to understand the results and implications of the tests provided

Despite this increase in knowledge of genetic services and research, there remains a deficit in understanding the applications of these services on the patient when considering screening tests. 5 In fact, studies show women who underwent genetic screening and testing later report being unaware of the purpose of the test and what the results mean. 6 Inadequate understanding of the implications of genetic services can impact a patient's health and their decision-making, especially in the context of prenatal care. 7

There is currently limited research regarding prenatal testing and patient education. Research shows there is a lapse in communication between providers and patients on genetic screenings. For example, in studies with Mexican origin patients, poor communication resulted in refusal of amniocentesis in pregnant women. 8 This observed lack of communication may be further compounded by providers' expressed need for additional education and guidance in patient education of the new tests, like the cell-free deoxyribonucleic acid (cfDNA) screening. 9 These studies successfully highlight the lack of adequate patient education on specific genetic screening tests like amniocentesis and cfDNA, but fail to provide data on the pregnant women's knowledge of genetic tests and how they receive information.

Therefore, this survey study aims to assess patient knowledge of genetic screening and diagnostic testing, evaluate the educational resources patients currently use from perspective of patients and providers, and identify areas to improve clinical resources on genetic testing education to improve the patient–provider communication in prenatal care.

Patient and providers at a major urban obstetrics and gynecology (OBGYN) department were offered the opportunity to complete a one-time anonymous survey. Patient surveys were distributed during clinic visits to all patients presenting for a prenatal-related visit (ultrasound visit, prenatal checkup, or routine nonstress test visit). Provider surveys were distributed using the clinic listserv via Qualtrics with one initial distribution and three subsequent reminder e-mails, approximately 3 to 4 weeks apart. Providers that received the e-mail included physicians (resident and nonresident), nurse practitioners, registered nurses, genetic counselors, medical assistants, and licensed practical nurses; however, there were no responses identified as licensed practical nurses. This study was approved by the George Washington University institutional review board, and in collaboration with the Pregnancy Related Care Research Network (PRCRN).

Patient Surveys

The patient demographics included age, race, level of education, and current trimester. To understand clinical experiences, patients were asked if they had had prior screening and diagnostic testing in an earlier pregnancy, recalled discussions with providers during this pregnancy, or were interested in various screening and testing options (first trimester blood work and ultrasound, cfDNA blood work, cystic fibrosis carrier blood work, hemoglobin electrophoresis, sickle cell trait carrier blood work, thalassemia carrier blood work, second trimester blood work, chorionic villus sampling, amniocentesis, maternal serum α-fetoprotein, or anatomy ultrasound). Patients were also asked if they had discussed the difference between screening and diagnostic testing with a provider, had met with a genetic counselor, and if these health care professionals were able to answer their questions using a 3-point Likert scale (“Unable to answer any of my questions,” “Answered some, but not all my questions,” and “Answered all my questions”).

To assess patient knowledge about the association between genes, chromosomes, the body, as well as disease, we utilized 6 items from a 16-item survey previously utilized by Haga et al 5 and Jallinoja and Arro 10 in the general population, as well Calsbeek et al 11 in a nonobstetric patient population. The full 16-item survey was not utilized due to concerns for survey length. These questions focused on general genetics-related knowledge and the health implications using a 5-point Likert scale (from “strongly disagree” to “agree”). The six statements adapted from prior work are listed in Table 1 . All other knowledge-based statements, such as defining genetics invasive testing options, were not adapted from prior work. Patient responses were then binned into “correct,” “incorrect,” and “unsure” using the following key: strongly agree/agree = correct; neutral = unsure; and strongly disagree/disagree = incorrect.

Sources: Adapted from Haga et al, 5 Jallinoja and Aro, 10 and Calsbeek et al. 11

Provider Surveys

The provider demographics included age, type of provider, primary specialty, race/ethnicity, and years in clinical practice. Provider knowledge is discussed at length in prior published work. 12

Patient–Provider Comparisons

Both patients and providers were asked to recall in-office discussions, distribution of several resources in office, and to interpret the usefulness of proposed educational tools related to genetic screening and diagnostic testing using a 3-point Likert Scale (“not useful,” “useful,” and “very useful”).

All data were analyzed using IBM SPSS Statistics. Descriptive statistics and chi-squared analysis of results are reported.

Patient Results

A total of 500 patient surveys were distributed, of which 466 were completed and 441 were analyzed after assessing for ≥ 75% survey completion (88.2% response rate). On average, patients were 32 years old, 27 weeks pregnant, and most often reported a graduate degree level of education (47.4%), with those identifying as Caucasian with the highest reported graduate degree level (70%). Patients most often presented for a routine prenatal visit (53.7%). A majority of patients self-identified as Caucasian/White (47.5%), and then as African American/Black (37.6%). In all, 38.1% reported screening and diagnostic testing in a prior pregnancy; however, 84.6% reported conversations about genetic screening with providers during their current pregnancy ( Table 2 ). Of the 47.8% of patients who reported meeting with a genetic counselor, 56.7% reported having all their questions answered.

At least 60% of patients were able to accurately answer general genetics-related screening and diagnostic testing questions, except for defining aneuploidy (30.4%; Fig. 1 ). If a patient reported discussing screening and diagnostic testing with their provider, they were significantly more likely to properly define screening and diagnostic testing ( p  < 0.001).

Proportion of patients who correctly identified each statement. Proportions are presented on the horizontal axis with the statements presented on the vertical axis.

Patients reported accessing educational resources independently, with the most common resource being web links/video (40%), followed by pamphlets/brochures (37.1%; Fig. 2 ).

Proportion of patients who reported receiving or accessing an educational tool by type of resource. Proportion of patients who accessed a resource by percentage on the vertical axis and type of resource listed on the horizontal axis.

Provider Results

A total of 229 providers were sent online surveys via e-mail, and 66 responses were completed (response rate 29%). From the 66 provider responses, 59 completed more than 50% of the survey. A majority (88.1%) were females, on average 41 years old, and in practice an average of 12 years ( Table 2 ).

Patient and Provider Comparison

Patients and providers reported receiving and distributing paper resources (pamphlets/flyers/brochures) most often (66.7 and 90% at one or more visits, respectively). Less than 10% of participants reported providers distributing web or video links, books, or any other resource; however, patients most often independently accessed web links (40.1%).

When questioned whether brochures or pamphlets, discussions with providers, discussions for reasons for a genetic counseling referral, group education classes, or online education would be useful, all but one option was perceived to be useful 80% or more of the time by patients. Meanwhile, providers found all resources useful over 85% of the time. The largest discrepancy was of the perceptions of group education classes with less than half the patients (47.6%) perceiving it as useful, but majority of providers found it useful (75.9%; Table 3 ).

A majority of patients are well informed on basic genetic concepts and were able to distinguish between the definitions of a screening and a diagnostic test. Patients who discussed screening and diagnostic testing were more likely to correctly define the terms, supporting counseling during provider visits is beneficial to patient's understanding of genetic screening and testing.

These results support the continuation of productive and educational conversations between patients and providers. However, when compared with a similar demographic population, patients were still less knowledgeable in genetics questions highlighting current measures may not be enough at a time when knowledge is necessary to make informed health decisions.

To find better ways to increase patient knowledge, the comparison of resources patients received from providers and the resources accessed individually shows a window of opportunity in which providers could create new effective and efficient tools for clinical practice to better engage patients. Furthermore, the discrepancies between patient and provider perceptions, seen largest with the idea of group classes, highlight where providers should consider increasing efforts (utilizing differing media and private discussions vs. group settings) for patient counseling. This patient perception may also only serve to emphasize the personalized needs and privacy associated with genetic screening and diagnostic testing.

However, it is critical to understand that the patient demographic captured in this survey study may not be generalizable to the general population—as we had a significantly large number of patients reporting a graduate degree or higher, compared with prior U.S. published census data. 13 Additionally, the large number of genetic counselor visits reported may also not be generalizable to the general prenatal population due to the varying institutional practices as well as availability of genetic counselors. These two factors may lead to falsely conceived higher levels of genetic knowledge than other populations. Furthermore, recall bias may also lead to inaccurate responses by patients and providers alike.

Utilizing this information, future research should study whether implementing educational tools via technological tools, like QR codes, into the waiting room, and in clinic, in congruence with patient-identified “usefulness” (i.e., web links/videos) would increase patient knowledge of genetic screening and diagnostic testing.

Acknowledgments

We would like to acknowledge Raina Kaji for her assistance in the completion of this research project.

Funding Statement

Funding The Pregnancy-Related Care Research Network (PRCRN) is supported by the Health Research and Services Administration Grant UA6MC31609.

Conflict of Interest There are no conflicts of interest; however, Dr. Schulkin is directly associated with the Pregnancy-Related Care Research Network (PRCRN). The PRCRN is supported by the Health Research and Services Administration Grant UA6MC31609.