Fetal nuchal translucency: ultrasound screening for fetal trisomy in the first trimester of pregnancy

TLDR

The study aims to develop a new screening method for fetal trisomies using maternal age and fetal nuchal translucency at 10–13 weeks. A prospective screening study at a tertiary referral centre enrolled 1,273 singleton pregnancies, estimating maternal age–related trisomy risks and comparing observed versus expected trisomy rates across nuchal translucency thresholds (<3 mm, 3 mm, >3 mm). Nuchal translucency ≥3 mm was present in 86 % of trisomic fetuses versus 4.5 % of normal ones, and observed trisomy rates were five to 24 times higher than age‑based expectations, yielding an estimated sensitivity of at least 85 % at a 5 % false‑positive rate, outperforming age‑only or age‑plus‑biochemistry screening.

Abstract

ABSTRACT Objective To investigate a new method of screening for fetal trisomies on the basis of maternal age and fetal nuchal translucency thickness at 10 to 13 weeks of gestation. Design A prospective screening study. Setting Tertiary referral centre. Subjects One thousand two hundred and seventy‐three women with singleton pregnancies undergoing first trimester fetal karyotyping because of advanced maternal age, parental anxiety, or family history of a chromosomal abnormality in the absence of balanced parental translocation. Methods Estimates of maternal age‐related risks for fetal trisomies 21, 18 and 13 at this gestation were used to derive the expected incidence of these trisomies in fetuses with nuchal translucency &lt; 3 mm, 3 mm and &gt; 3 mm, respectively, and the ratio of observed to expected number of cases was calculated. Results The nuchal translucency was ≥ 3 mm in 86% of the trisomic and in 4.5% of the chromosomally normal fetuses. The observed number of trisomies in the 1185 cases with nuchal translucency &lt; 3 mm was approximately five times less than the number expected on the basis of maternal age. In the groups with translucency of 3 mm ( n = 52 ) and &gt; 3 mm ( n = 36 ), the observed numbers of trisomies were approximately five times and 24 times higher than the respective numbers expected on the basis of maternal age. Conclusion The risk of fetal trisomy can be derived by combining maternal age and fetal nuchal translucency thickness at 10 to 13 weeks of gestation. It is predicted that for a false positive rate of 5%, the sensitivity of the new method of screening would be at least 85%, which compares favourably with the respective 20 to 30% and 50 to 60% of screening based on maternal age alone or the combination of maternal age with maternal serum biochemistry.