Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution

Abstract

Even minimal (95th percentile--3.4 mm) increase in NT thickness is associated with adverse pregnancy outcome also in euploid fetuses.

Long‐term neurodevelopmental outcome of children from euploid pregnancies with increased nuchal translucency in the first trimester screening

“…The aim of our study was to provide more accurate parental counselling when fetal NT is increased. Previously we have found that the short‐term prognosis is favourable in 97% of such cases if the karyotype and the second trimester ultrasound scan were normal . This study adds the fact that 4.2% of children, who had increased fetal NT, have neurodevelopmental disorders.…”

“…Increased NT was defined as a thickness ≥3 mm until 1 March 2004; the 95th percentile cut‐off values based on the crown‐rump length (CRL) of the fetus were used thereafter. The cut‐off values for increased NT at each CRL measurement used at our unit have been reported earlier . After counselling by a perinatologist or a geneticist, the karyotype of the fetus was defined either by chorionic villus sample or amniocentesis whenever the parents opted for karyotyping.…”

“…Altogether, 1063 singleton pregnancies were referred to the DFM during the study period. The outcomes of these pregnancies and the short‐term outcomes of the newborns until discharge from the delivery hospital have been reported earlier …”

“…Increased fetal nuchal translucency (NT) is associated with chromosomal abnormalities, structural anomalies, a wide variety of genetic syndromes, and adverse pregnancy outcome . Adverse pregnancy outcome is increased by increasing NT, also in pregnancies with euploid fetuses …”

Chromosomal microarray in fetuses with increased nuchal translucency

“…Increased nuchal translucency (NT) > 99 th percentile (≥ 3.5 mm) is associated not only with common fetal aneuploidies (trisomies 21, 18 and 13 and sex chromosome aneuploidies) but also with fetal genetic disorders, syndromes and structural defects. Rare genetic syndromes are often undetectable by ultrasound in the first trimester of pregnancy and can be caused by submicroscopic imbalances that are also undetectable by karyotyping.…”