Conventional prenatal screening methods remain the most appropriate first-line screening choice for most women in the general obstetric population, according to updated recommendations on cell-free DNA (cfDNA) screening for fetal aneuploidy issued by The American College of Obstetricians and Gynecologists Committee on Genetics jointly with the Society for Maternal-Fetal Medicine.
The Committee Opinion (Number 640) was released online in June 2015 and subsequently published in the September 2015 issue of Obstetrics and Gynecology.
The primary motivation for undertaking the update was to review the role of cfDNA screening for all pregnant women, recognizing the increase in data on this topic since the original Committee Opinion (Number 545) was published in December 2012.
The revised document also newly provides recommendations for follow-up of women who have a “no call” result from a cfDNA screening test, stating that they should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy.
As another key recommendation, the Committee reaffirmed its original opinion that there is insufficient evidence to support use of cfDNA screening in women with multiple gestations.
Joseph R Biggio, Jr, MD, Chair of the Committee on Genetics and Professor and Director of the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Alabama at Birmingham School of Medicine, told Contemporary OB/GYN, “The uptake of cfDNA screening into clinical practice has occurred much more quickly than anything else we have seen in obstetric medicine. The original Committee Opinion focused on use of this technology in high-risk women because they were the subjects included in the available studies that validated cfDNA testing. Since then, more studies came out providing data on the performance of this technology in lower-risk women who are seen in a general obstetric population.”