Abstract
Currently, there are at least eight different methodologies available to expectant parents who wish to screen prenatally for Down syndrome and other aneuploidies. These techniques, which can incorporate serum, ultrasound and most recently free fetal DNA (ffDNA) technologies, have yielded an evolving menu of options with considerable variability in both sensitivity and specificity. The aim of our study was to assess how genetic counselors are utilizing these various methodologies and to solicit their opinions and recommendations regarding fetal aneuploidy screening programs. We recruited currently practicing prenatal counselors via the NSGC listserv to participate in an anonymous online survey. We received 207 eligible responses to our survey, which consisted of questions regarding specific screening methodologies offered at their institutions, experiences and challenges in counseling patients, and required elements for optimal screening programs.\r Our results indicate that there is considerable variability in the prenatal screening methods used. First trimester screening is the most widely used methodology, offered regularly by 82% of respondents. However, 52% of respondents reported that they regularly offer sequential screening, and 57% offer ffDNA screening either routinely or on a limited case-by-case basis. Many counselors expressed concern about the quality of informed consent when undertaken by non-genetics providers. Of note, almost two-thirds (59%) of respondents indicated that they sometimes, often, or always saw patients for discussion of screening results who did not recall consenting to screening. Factors positively correlated with optimal screening programs were the ability to offer CVS, first trimester screening, ffDNA screening, and pre-screening appointments. The landscape of prenatal aneuploidy screening is likely to change drastically in the coming years, and it is imperative that genetic counselors be involved in the development and implementation of screening programs that effectively integrate both current and future methods while optimizing patient comprehension and autonomy.