Af. Brady et al., OUTCOME OF CHROMOSOMALLY NORMAL LIVEBIRTHS WITH INCREASED FETAL NUCHAL TRANSLUCENCY AT 10-14 WEEKS GESTATION, Journal of Medical Genetics, 35(3), 1998, pp. 222-224
The aim of this study was to determine the outcome of chromosomally no
rmal livebirths with increased fetal nuchal translucency at 10-14 week
s' gestation. Clinical follow up of 89 chromosomally normal livebirths
that in fetal life had a minimum nuchal translucency thickness of 3.5
mm and a comparison group of 302 infants whose fetal nuchal transluce
ncy thickness at 10-14 weeks of gestation was less than 3.5 mm was per
formed. Major abnormalities, mainly structural defects of the cardiova
scular or skeletal systems, were found in 10.1% (nine of 89) of the gr
oup with increased translucency, compared to 2% (five of 302) in those
with translucency of less than 3.5 mm (chi(2)=11.9, p<0.001). Delay i
n achievement of developmental milestones was observed in one of the i
nfants with increased translucency and in one of the comparison group.
The findings of this study show that in chromosomally normal fetuses
increased nuchal translucency thickness at 10-14 weeks of gestation is
a marker for fetal abnormalities including structural defects and gen
etic syndromes.