Nuchal fold thickness, nasal bone absence or hypoplasia, ductus venosus reversed flow and tricuspid valve regurgitation in screening for trisomies 21, 18 and 13 in the early second trimester

Abstract

Objective: To investigate the performance of nuchal fold thickness, nasal bone hypoplasia, reversed flow in the ductus venosus and tricuspid valve regurgitation in the prediction of fetal aneuploidies in the early second trimester.

Methods: This was a prospective study of 870 fetuses at 14 + 0 to 17 + 6 weeks of gestation, performed from 2005 to 2007. In all cases we assessed classical structural anomalies, second-trimester markers of aneuploidy including nuchal fold thickness and nasal bone length, as well as ductus venosus blood flow pattern and tricuspid valve regurgitation.

Results: The study group included 37 fetuses with trisomy 21, eight with trisomy 18 and four with trisomy 13. Nasal bone hypoplasia was the single most sensitive parameter to identify fetuses with trisomy 21. Independent from maternal age, screening by assessment of nuchal fold and nasal bone identified 64.9% of cases with trisomy 21 and 66.7% of cases with trisomy 18/13 (false-positive rate (FPR), 5.8%). By including ductus venosus and tricuspid flow evaluation, the detection rate increased to 75.7% for trisomy 21 and 83.3% for trisomy 18/13 (FPR, 10.8%). Identification of fetuses with structural abnormalities combined with assessment of all four markers under investigation raised the detection rate of trisomy 21 to 83.9% and that of trisomy 18/13 to 100%. The sensitivity of classical second-trimester markers was 62.2% for trisomy 21 and 70.6% for other autosomal aneuploidies (FPR, 11.3%).

Conclusion: The combination of assessment of nuchal fold thickness, nasal bone hypoplasia, ductus venosus reversed flow and tricuspid regurgitation in the early second trimester is associated with a higher detection rate of autosomal trisomies compared with classical second-trimester marker screening.