Abstract
Objective Cell-free fetal DNA (cfDNA) screening has had a dramatic impact in obstetrics. We examined the impact of cfDNA screening in a network of geographically diverse referral maternal–fetal medicine (MFM) private practices.
Study Design Data were derived from the genetic clinics of 16 testing centers from a wide geographic area and included all women undergoing either amniocentesis or chorionic villus sampling (CVS) during a 6-month control period versus a 30-month study period.
Results During the control period, there were 193 amniocenteses and 47 CVS/month. During the last 6 months of the study, amniocenteses dropped to 52/month and CVS to 18/month. Positive aneuploid test results per procedure increased from 6.9% during the control period to 15.0% during the last 6 months of the study period. However, the overall number of aneuploidy results decreased from 16.7/month to of 10.5/month.
Conclusion Our study demonstrates the dramatic changes in the era of cfDNA screening on reducing the frequency of amniocentesis and CVS associated with a higher percentage of positive results per procedure. There was an unexpected decrease in aneuploid fetuses diagnosed over the study period, which could reflect decisions regarding genetically abnormal fetuses being made without a definitive diagnostic procedure.
Keywords
cfDNA screening - non-invasive prenatal screening - impact of NIPS - aneuploidy
