Prenatal Screening For Fetal Abnormalities Research Articles

Conditions for autonomous reproductive decision-making in prenatal screening: A mixed methods study

BackgroundPregnant women should be able to make autonomous and meaningful decisions about prenatal screening for fetal abnormalities. It remains largely unclear which circumstances facilitate or hinder such a decision-making process. ObjectiveTo investigate what conditions Dutch pregnant women and professional experts consider important for autonomous reproductive decision-making in prenatal screening for fetal abnormalities, and the extent to which, according to women, those conditions are met in practice. MethodsA mixed methods study was conducted in the Netherlands in 2016–2017. A conceptual model was used to interview professional experts (n = 16) and pregnant women (n = 19). Thematic analysis was performed to identify important conditions. Subsequently, a questionnaire assessed the perceived importance of those conditions and the extent to which these were met, in the experience of pregnant women (n = 200). ResultsProfessional experts stressed the importance of information provision, and emphasized a rational decision-making model. Pregnant women differed in what information they felt was needed, and this depended on the screening decision made. Questionnaire findings showed that women prioritized discussion and consensus with partners. Information about test accuracy and miscarriage risk of invasive follow-up testing was also considered important. Two key conditions were not adequately met, in the experience of women: (1) having information about miscarriage risk; (2) not being directed by health professionals in decision-making. ConclusionAccording to women, discussion and consensus with partners was considered a highly important condition for an autonomous and meaningful decision-making process. Access to information about safety of testing and ensuring that women are not being directed in their decision-making by health professionals seem to be areas for improvement in prenatal care practice.

Changing our perspective: Is there a government obligation to promote autonomy through the provision of public prenatal screening?

In many countries, prenatal testing for certain fetal abnormalities is offered via publicly funded screening programs. The concept of reproductive autonomy is regarded as providing a justificatory basis for many such programs. The purpose of this study is to re-examine the normative basis of public prenatal screening for fetal abnormalities by changing our perspective from that of autonomy to obligation. After clarifying the understanding of autonomy adopted in the justification for public prenatal screening programs, we identify two problems concerning this justification: first, the extent to which the government is obliged to meet this demand is not evident; and, second, it is not clear whether the provision of public screening is the most appropriate way to promote autonomy. Next, to tackle these problems, we focus on Onora O'Neill's argument of rights and obligations. Drawing on this argument, we show that, in addressing the problems above, it is important to change our normative perspective from rights or autonomy to obligation. Our argument will show that since the government does not have an incontrovertibly fundamental obligation to promote autonomy, this obligation needs to be constrained in terms of compatibility with other fundamental obligations. In addition, even if a government is obliged to promote autonomy to some degree, there could be more appropriate means to achieve it than providing public prenatal screening; therefore, it is not necessary for government obligations to extend to the provision of public prenatal screening.

A Capabilities Approach to Prenatal Screening for Fetal Abnormalities

International guidelines recommend that prenatal screening for fetal abnormalities should only be offered within a non-directive framework aimed at enabling women in making meaningful reproductive choices. Whilst this position is widely endorsed, developments in cell-free fetal DNA based Non-Invasive Prenatal Testing are now raising questions about its continued suitability for guiding screening policy and practice. This issue is most apparent within debates on the scope of the screening offer. Implied by the aim of enabling meaningful reproductive choices is the idea that screening services should support women in accessing prenatal tests that best enable them to realize the types of reproductive choice that they find important. However, beyond whatever options meet the quality standards required for facilitating an informed decision, the remaining criteria of facilitating autonomous choice is strictly non-directive. As a result, policy makers receive little indication prior to consultation with each individual woman, about what conditions should be prioritized during the offer of screening. In this paper we try to address this issue by using the capabilities approach to further specify the non-directive aim of enabling meaningful reproductive choice. The resulting framework is then used to assess the relative importance of offering prenatal screening where concerning different types of genetic condition. We conclude that greater priority may be ascribed to offering prenatal screening for conditions that more significantly diminish a woman’s central capabilities. It follows that serious congenital and earlier-onset conditions are more likely to fulfill these criteria.

Just choice: a Danielsian analysis of the aims and scope of prenatal screening for fetal abnormalities

Developments in Non-Invasive Prenatal Testing (NIPT) and cell-free fetal DNA analysis raise the possibility that antenatal services may soon be able to support couples in non-invasively testing for, and diagnosing, an unprecedented range of genetic disorders and traits coded within their unborn child’s genome. Inevitably, this has prompted debate within the bioethics literature about what screening options should be offered to couples for the purpose of reproductive choice. In relation to this problem, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) tentatively recommend that any expansion of this type of screening, as facilitated by NIPT, should be limited to serious congenital and childhood disorders. In support of this recommendation, the ESHG and ASHG cite considerations of distribution justice. Notably, however, an account of justice in the organization and provision of this type of screening which might substantiate this recommendation has yet to be developed. This paper attempts to redress this oversight through an investigation of Norman Daniels’ theory of Just health: meeting health needs fairly. In line with this aim, the paper examines what special moral importance (for Just health) screening for the purpose of reproductive choice might have where concerning serious congenital and childhood disorders in particular. The paper concludes that screening for reproductive choice where concerning serious congenital and childhood disorders may be important for providing women with fair opportunity to protect their health (by either having or not having an affected child).

Current and Emerging Multianalyte Assays with Algorithmic Analyses-Are Laboratories Ready for Clinical Adoption?

Over the past decade, there have been a rising number of clinically used tests that combine 2 or more biochemical or molecular assays, demographics, and clinical information into an algorithm to generate diagnostic, prognostic, or predictive information for a specific disease. The concept of multianalyte analyses is relatively new in the field of laboratory medicine. Dating back to the 1980s, prenatal screening for fetal abnormalities, such as Down syndrome, by use of maternal biomarkers is among the pioneer tests that use algorithmic analyses for risk assessment. Yet, the number of multianalyte algorithms used clinically remains modest. The American Medical Association provides current procedural terminology (CPT)8 codes for 20 multianalyte assays with algorithmic analyses (MAAAs.) Among these, 9 consist of biochemical markers detected by immunoassay or mass spectrometry, with or without other clinical information; 11 use molecular genetics markers; and 1 is for generic use. In this Q&A, we refer to multivariable tests with risk scores as MAAAs, although not all of them have an associated MAAA CPT code. Generally speaking, MAAAs aim at improving diagnostics for diseases in which single biomarkers have limited clinical validity. The Prostate Health Index (Beckman Coulter) and the 4Kscore® (GenPath) exemplify some of these strategies for prostate cancer detection. Likewise, multianalyte analyses such as the Risk of Ovarian Malignancy Algorithm (ROMA®) and OVA1® and its second-generation OVERATM (Vermillion Inc.) improve upon the suboptimal performance of the tumor marker CA125 in the differential diagnosis and likelihood of ovarian carcinoma in women presenting with a pelvic mass. While both have Food and Drug Administration (FDA) clearance, ROMA is a nonproprietary algorithm cleared on various commercial immunoassays (Fujirebio Diagnostics, Inc.; Abbott Laboratories; Roche Diagnostics). Early identification of acute kidney injury is another area in which an FDA-approved multianalyte test, Nephrocheck® (Astute Medical), …

A report of two linked studies of knowledge and attitudes to prenatal screening and testing in adults of reproductive age in Japan and the UK

Background prenatal screening for fetal abnormality is being offered routinely in many countries. The need for informed consent demands that the nature of screening is understood by prospective parents, but the opportunities for providing information early in pregnancy before decision-making may be limited. Objective to assess the knowledge about, and attitudes to, prenatal screening in adults of reproductive age in two countries. Design two groups of adults were surveyed using a specifically designed tool to assess knowledge about fetal abnormalities and potential screening tests, attitudes to screening and termination of pregnancy, and information required by parents before making decisions. Setting and participants 90 participants were surveyed in Japan, 72% of whom were pregnant or had a partner who was pregnant; 93 participants were surveyed in the UK, none of whom were pregnant. All respondents were aged between 18 and 45 years. Measurements demographic data were collected and analysed. Frequencies were calculated for each questionnaire response. A series of t-tests and χ 2 tests were used to assess differences between the two groups. Free-text data were analysed using content analysis. Findings overall knowledge of prenatal tests and the conditions for which screening is offered was low in both groups. Significant differences exist between the perception of the conditions for which screening or testing can be offered and the types of conditions that can actually be detected prenatally. Most respondents in both countries would consider termination of pregnancy for fetal abnormality. The information most frequently cited by respondents as important when deciding about testing were the chances of damage to the health of fetus, mother, or both. Key conclusions women and men of reproductive age in the groups studied are not well-prepared to make decisions about screening or testing in pregnancy. Implications for practice improvements in preconceptual education on prenatal screening and testing may be required to ensure prospective parents can make informed decisions in early pregnancy.

Health Needs of Women With Disabilities Across the Lifespan

Women with disabilities experience a variety of unique health needs from adolescence to older age. They require compassionate and comprehensive health care services to manage their physical disabilities and to prevent secondary conditions. Unfortunately, many women with disabilities encounter attitudinal, informational, environmental, and geographic barriers as they seek access to health care. A variety of measures can be implemented to overcome these barriers and to improve the quality of health care that women with disabilities receive.

Distress Associated with Prenatal Screening for Fetal Abnormality

A theoretically-based, multivariate approach was used to identify factors associated with emotional distress for pregnant women undergoing maternal serum alpha fetoprotein (MSAFP or AFP) testing, used to detect abnormalities of the fetal brain and spinal cord. Participants were those who received normal results (N = 87). Study results supported the hypothesis that different factors would predict distress before and after testing. Satisfaction with information about testing predicted lower emotional distress early in the testing process; concerns about the child having other medical conditions and low-dispositional optimism predicted distress later. Study findings indicate that even in women who receive normal test results, AFP testing is associated with a modest degree of emotional disturbance which declines, but does not completely abate, after testing.

A Comparative Study of Prenatal Ultrasound Findings and Postmortem Examination in a Tertiary Referral Center

Most women in the United Kingdom now have prenatal screening for fetal abnormalities. This retrospective study compared the findings on prenatal ultrasound study with postmortem findings in pregnancies in which a fetal abnormality resulted in fetal loss. A total of 153 pregnancies were screened in a 12-month period and found to have such abnormalities. Autopsy findings were available in 47 cases. There were 40 terminations, 5 intrauterine fetal deaths, and 2 early neonatal deaths. The mean gestational age at the time of autopsy was 21 weeks; 72% of pregnancies were at less than 24 weeks gestation. There was no major disagreement between the ultrasound and postmortem findings in 98% of cases. Agreement was considered to be complete in 22 of these cases and major in 24. A majority of cases with complete agreement involved neurologic abnormalities. In 11 cases, there were additional but minor findings at autopsy, and in 13 cases, there were significant additional findings that added to the final diagnosis. The most common additional findings were genitourinary anomalies and dysmorphic external features. Autopsy yielded a definitive diagnosis in 13% of cases. In only 1 instance was there complete disagreement between the ultrasound and autopsy findings. This was an infant with de Lange syndrome, severely restricted growth, facial dysmorphism, cleft palate, and other abnormalities. Ultrasound study at 27 weeks gestation had shown only symmetric growth restriction and anomalies of the hands. Greater agreement between prenatal ultrasound and autopsy findings was found in this series than in previous studies. In only 1 of 47 cases was there complete disagreement. Ultrasonography is very accurate when carried out in specialist centers, but autopsies remain important for refining the diagnosis or, in some instances, making a definitive diagnosis.

Do women understand prenatal screening for fetal abnormality?

Screening for fetal abnormality is routine in many parts of the world. This qualitative study found an alarming level of misunderstanding surrounding the purpose of ultrasound scans and serum testing. Findings show that some women did not understand that they were free to choose whether or not to have tests. Some who did understand the optional nature of the tests were making decisions based on poor understanding of what the tests were for or the nature of the results they would yield. The issue of consent is discussed the light of these findings. This research has highlighted an important area of concern and it is clear that further work is needed to ensure that a better level of understanding is attained by those undergoing prenatal screening.

Prenatal screening in the first trimester of pregnancy

Prenatal screening for fetal abnormalities in an accepted part of modern obstetric management. Improvements on current screening procedures need to address increased diagnostic efficacy and earlier diagnosis. This study evaluates diagnostic efficacy of PAPP-A and F beta-hCG in the detection of first trimester pregnancy abnormalities, including Down syndrome (DS). Of 731 pregnant volunteers, obtained from a mature age population undergoing chorionic villus sampling (CVS), 17 DS and 11 compromised (six numerical (excluding sex chromosome) aneuploidies, five spontaneously failed) pregnancies were detected. Application of an algorithm, which combines PAPP-A and F beta-hCG levels with material age, detected 66.6 per cent of DS pregnancies for a five per cent false positive rate. Similarly, for a 1-2 per cent recall rate, 72.2 per cent of compromised pregnancies were detected. This report supports the notion that prenatal screening at 9-12 weeks of pregnancy is achievable with PAPP-A and F beta hCG quantitation. Whereas mid-gestational screening targetted the detection of fetal abnormalities, screening earlier in pregnancy will detect other pregnancy-related abnormalities, in addition to aneuploidy.

Attitudes toward prenatal screening for fetal abnormality and detection of carriers of genetic disease: A discussion paper

Abstract This paper compares the uptake of prenatal screening for fetal abnormality with that of the recently introduced test for carriers of cystic fibrosis. While the former is widely accepted, the latter appears to be of much less interest to the relevant population. It is argued that prenatal screening is seen as a part of an antenatal care 'package'. Knowledge about the tests and their implications is limited except for those women who know themselves to be at particular risk. Most of the remainder seek reassurance that all is well through antenatal care and the prenatal screening that makes up part of the package. It is argued that interest in carrier detection for genetic diseases like cystic fibrosis is limited because mast people who have not had direct contact with the disease do not see themselves to be at risk. One reason for this is that they may hold beliefs about inheritance which indicate that they cannot be a carrier if they do not have a close relative with the disease. It is suggested t...

The psychological effects of false-positive results in prenatal screening for fetal abnormality: a prospective study.

The purpose of the study was to describe the impact of false-positive results from initial maternal serum alpha-fetoprotein (MS-AFP) screening. The analyses compared two groups of women, those receiving a negative result (n = 346) and those receiving an initial positive result (n = 26), over four time points--prior to testing, immediately after testing, later in pregnancy, and in the post-partum period. Receiving an abnormal result was associated with high levels of anxiety which were reflected in increased worry about the baby's health and a more negative attitude towards the pregnancy and the baby. Women who had an initial abnormal result were offered a variety of further tests. Those women who went on to have amniocentesis were less worried about their baby's health in the third trimester and also less anxious post-partum than those who did not have amniocentesis. In view of the increasing number of screening tests available, it is necessary to establish whether and how these levels of distress can best be reduced.

Prospective prenatal screening for fetal abnormalities using a quantitative immunoassay for acetylcholinesterase.

An immunoassay based on a monoclonal antibody specific for acetylcholinesterase (AChE) was used prospectively over a two year period to screen second trimester amniotic fluids for fetal abnormalities. All 26 cases of spina bifida, three of which had normal alphafetoprotein (AFP) concentrations and ultrasound scans, were detected by the immunoassay. Four clear fluids, with abnormal AFP concentrations, had normal AChE titres and yielded normal outcomes. Some difficulties were encountered with both the AChE immunoassay and polyacrylamide gel testing when amniotic fluids were contaminated with old blood. However, the quantitative nature of the AChE immunoassay and its independence of operator experience make it an ideal adjunct to AFP assay for routine screening of amniotic fluids.