How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update

OBJECTIVE. The sonologist detects a so-called “soft marker” during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening. The use of cell-free DNA screening and its relationship to these sonographic findings will be reviewed. CONCLUSION. The era of ultrasound markers as a screen for fetal aneuploidy is coming to a close. The detection of these markers on an ultrasound examination should simply serve as a reminder to ensure that the patient was offered cell-free DNA screening or conventional analyte screening. Cell-free DNA testing is revolutionizing screening. With normal results on a cell-free DNA test, many isolated soft markers—i...