Patient attitudes and preferences about expanded noninvasive prenatal testing

Abstract

Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically carried out to screen for common fetal chromosomal anomalies, with the option to screen for a wider range of chromosomal changes (expanded NIPT) becoming increasingly available. However, little is known about pregnant patients’ attitudes and preferences regarding expanded NIPT.Methods: To address this gap, we surveyed general-risk patients having first-tier cfDNA screening at a private prenatal clinic on their expectations for expanded NIPT. Patients were asked questions regarding their current pregnancy and previous pregnancy history, their opinions on fetal DNA screenings during pregnancy and incidental findings, information and opinions on financial resources for NIPT, as well as socio-cultural questions to determine patient demographics.Results: Of the 200 survey participants, the majority were educated, self-reported as white, had a higher than average income, and reported no aneuploidy risk factors. When asked what information they would like to receive from cfDNA screening, the vast majority of participants wanted all information available that could have an immediate impact on fetal health (88%) or an immediate impact on infant health from birth (82%). Many participants also wanted information that could have a future impact on the child’s health or an immediate or future impact on the pregnant woman’s own health. Most participants wanted information about the sex of fetus (86%) and common trisomies (71%), with almost half of participants desiring information about rare autosomal aneuploidies and/or all genetic information that may affect the baby. In addition, participants were found to be comfortable screening for conditions that are well-known, influence care during pregnancy, and are treatable. Finally, while most respondents either had insurance coverage for NIPT or were able to afford NIPT out of pocket, the majority of our participants felt that expanded NIPT should be either free for everyone or for those considered high risk.Discussion: Our findings suggest that with appropriate pre-test counseling, pregnant patients may choose NIPT for an expanding list of conditions.

Insights Into Down Syndrome Screening and Diagnostic Test Preferences Among Pregnant Women: Findings from a Cross-Sectional Study in Vietnam

“…This is complemented by the cost-utility analysis performed by Anh et al, indicating NIPT as a cost-effective alternative for high-risk pregnant women in Vietnam, presenting a strong case for the broader adoption and insurance coverage of NIPT in developing countries (19,31). The diagnostic preferences indicated by our study participants show a growing acceptance of NIPT over invasive methods such as amniocentesis, signaling a shift toward patient-centric benefits (32,33).…”

Genetic Screening—Emerging Issues

“…However, currently there is no consensus on which other variants should be included in NIPT, and professional societies are warning that caution should be exercised [42,43]. Studies have shown that most pregnant couples would prefer to learn more information about their unborn child [44,45], even to the point of accepting a less accurate test in exchange for receiving this information [46]. Nevertheless, the potential benefits and harms of these expanded tests need to be evaluated, preferably in advance of their introduction into clinical practice [47].…”