Expanded indications for noninvasive prenatal genetic testing: Implications for the individual and the public

Summary Objectives Noninvasive prenatal testing (NIPT) has rapidly been integrated into the routine management of women at increased risk for common autosomal aneuploidies. Advances in molecular diagnostics have quickly made it possible to use NIPT to screen for other genetic variants not formerly included in routine prenatal genetic screening or diagnostic testing, including sex chromosome aneuploidies (SCAs) and microdeletion syndromes. Moreover, it is anticipated that NIPT will become available for use by the low-risk obstetric population in the near future as test performance becomes better defined with clinical experience. The pace and trajectory of these advances raise important questions about the clinical, ethical, and public health impact of this new prenatal technology for individual patients, families, and society. Methods A cross-sectional study was conducted of pregnant women who had utilized NIPT to examine key patient-reported aspects of the educational and decision-making process regarding current and forthcoming indications of this screening test. Results A total of 139 participants completed the survey. Two-thirds ( n  = 90, 65.2%) entered their prenatal care with the intention to undergo prenatal genetic screening or testing primarily because of self-identification as advanced maternal age (AMA); these participants were more likely to have had prenatal genetic assessment in a prior pregnancy ( P  = 0.016). The remainder proceeded with NIPT following a directed discussion with their clinician about testing options. Leading decision-making factors in favor of NIPT included the absence of iatrogenic risk, the increased accuracy of NIPT as compared to conventional screening to detect trisomy (T) 21, T13, T18, and SCAs, and the ability to determine fetal sex. Participants had greater familiarity with T21, T13, and T18 than with SCAs and overall less familiarity with the microdeletions that NIPT is currently being marketed to detect. While participants recognized the superior accuracy of NIPT over conventional screens, few recognized the different detection and false positive rates within a screening panel for each of the identifiable conditions. Despite their awareness of the increased accuracy of NIPT, 41.3% ( n  = 57) described the testing process as stressful, 64.7% ( n  = 90) recommended a formal, written informed consent process in addition to 50.0% ( n  = 68) genetic counseling prior to screening. Conclusions Pregnant women are less familiar with SCAs, microdeletions, and the capability of NIPT to screen for these variants than they are with T21, T18, and T13. Additionally, despite the increased accuracy and capability of NIPT as compared to conventional screening tests, women reported feeling anxiety during the screening process. The results of this study highlight the need for clinicians and policymakers to provide effective guidance and support for patients’ decision-making about NIPT both at the present time and as the indications expand to include all pregnant populations and detailed fetal genomic analysis.