Outcome of fetuses with increased nuchal translucency

Recent reports on nuchal translucency screening in unselected patient populations show results that are comparable with those reported by the thus far largest series on screening for Down's syndrome based on maternal age and nuchal translucency measurement. Much interest is focused on the prognostic value of increased nuchal translucency in fetuses with normal chromosomes. Increased nuchal translucency is regarded as a clear sign of declining fetal health, which can be associated with fetal demise, structural anomalies, rare genetic syndromes, and in particular congenital heart defects. A clear association is demonstrated between nuchal translucency above the 99th centile and congenital cardiac defects. Such a finding should prompt specialized echocardiography. However, on the whole the sensitivity of nuchal translucency screening is too low to consider this as the sole criterion to screen for critical heart defects.