Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell-free DNA.

Abstract

To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies. Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only cases with increased NT and euploid karyotype were considered eligible for inclusion. Abnormal findings, diagnostic work-up, and perinatal outcomes were assessed. Of 18084 FTS results, 460 (2.5%) showed increased fetal NT, of which 242 (52.6%) underwent invasive karyotyping and 179 (74.0%) had an aneuploidy. Of the remaining 63 cases, 61 (96.8%) showed an additional sonographic finding at FTS and25 (78.1%) had a major anomaly at the second trimester organ scan. The outcome was termination of pregnancy in 28 (44.4%) cases, fetal demise in 5 (7.9%), delivery of an infant with malformation in 21 (33.3%), and delivery of a healthy infant in 7 (11.1%) cases. All cases with increased NT would have been detected by cfDNA or by a major sonographic anomaly not later than the second trimester. Routine use of cfDNA, a basic sonogram, and an organ scan could reduce unnecessary work-up and anxiety.