Abstract
Non-invasive prenatal screening (NIPS) using cell free DNA (cfDNA) technology first emerged as a screening tool for Down syndrome in high-risk patients. NIPS technology now allows for prenatal screening for sex chromosome anomalies (SCAs), copy number variants (CNVs) and single gene disorders and is being offered to patients outside of the high-risk category. ACOG and ACMG recommendations for the use of SCA and CNV screening differ and neither group has published guidelines for single gene screening. This study collected survey responses from 95 prenatal genetic counselors to understand how they and their practices are currently utilizing these screening tests and discussing them with patients. Counselors were asked also about their opinions on current and future use and utility of cfDNA. Respondents reported that SCAs are offered to all patients in 43% of their clinics, while in 48% cfDNA is most often offered to women at high risk due to advanced maternal age, abnormal ultrasound findings or a positive serum screen. Currently, CNV screening is most often offered in special circumstances (48%) such as in the presence of abnormal ultrasound findings or a known family history, while 26% of practices are offering CNV screening routinely when offering cfDNA and 25% percent do not currently offer CNV screening at all. Single gene screening is currently being offered in 36% of clinics for special circumstances such as suggestive ultrasound findings, or advanced paternal age. We found consensus among counselors on important issues to discuss with patients and considerations to make about the future of cfDNA. Our results underscore the importance of developing professional guidelines and accumulating data on the positive predictive value and clinical utility of cfDNA screening of CNVs and single gene disorders. The opinions collected call for the thoughtful integration of available technology balanced with clinical relevance and benefit.