Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical, Legal, and Social Issues

Abstract

Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

Use of Genetic Testing after Abnormal Screening Ultrasound: A Descriptive Cohort Study

“…While NIPS has superior detection of common aneuploidies (+13, 18, 21) when compared to other screening methods [9], there are known limitations. Specifically, NIPS may give false negative results in patients with fetal single gene defects on most current panels, or chromosomal abnormalities other than the common aneuploidies [10, 11]. Therefore, it is crucial that patients are thoroughly counseled and fully understand limitations and residual risks of NIPS.…”

“…If patients do not understand the limits of the NIPS screening, specifically the lack of full genetic evaluation via diagnostic testing, they may be upset to find abnormalities at delivery or delay other decision making if they are falsely reassured by NIPS results. There is also the concern for possible litigation surrounding inadequate counseling or inappropriate use of NIPS [11]. …”

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

“…The potential high uptake of NIPT [46,47] raised concerns addressed by different authors related to the reasons for which individuals would wish to test and the social impact of such individual decisions [48,49]. The main concerns in this context are the possible lowering of the threshold of testing and the risk of increased stigmatization and discrimination against individuals with disabilities and their families, as well as the resurgence of eugenic social attitudes.…”

“…Consequently, potential benefits for women and families were over-estimated. Moreover, direct-to-consumer (DTC) commercial offer of NIPT is considered by several authors to be a potential threat to an ethical implementation of this test [7,49,50]. Health professionals do not recommend this type of marketing for NIPT, arguing that women and couples may not have access to suitable information, counselling and support to guide their decision-making [25,50].…”

Extending non-invasive prenatal testing to non-invasive prenatal diagnosis

“…For example, there is a concern that the pros and cons of prenatal genetic testing will be less carefully considered by prospective parents when the risk of miscarriage is removed, and people may rush into having prenatal testing without much thought as to whether they really want to know the results 5. The availability of this technology on the NHS is also controversial—for example whether it should be funded for pregnancies at low risk of a specific genetic condition but where parents are seeking reassurance, such as for couples who have previously experienced a pregnancy with a de novo genetic condition (please see table 1 for comparison of the different prenatal testing options currently available).…”