The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency

Ron Maymon*, A. Herman

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review


This review aims to address the systematic work-up and counseling throughout pregnancies with increased nuchal translucency (NT) in euploid fetuses. Original articles from peer-reviewed English-language journals between 1997 and 2003 were studied. They all included descriptions of pregnancy outcomes of euploid fetuses with increased NT. Eleven studies reporting on the pregnancy outcome of 2128 euploid fetuses with increased NT (≥3 mm or ≥95 centile) were retrieved by our literature search. A statistical analysis was conducted for assessing the consistency of effects across studies. The χ2 tests were applied to verify the homogeneity of the results from different series. A significant difference was found between the studies even when the results were analyzed separately according to various NT cutoff levels (i.e. ≥3 mm, ≥3.5-4 mm, and ≥95 centile). These discrepancies suggest that those studies are significantly different and therefore, cannot be combined for meta-analysis. Of all the reported series, 2.2-10.6% of the fetuses have miscarried and 0.5-15.8% ended in perinatal death. There was an overall rate of 0.5-12.7% neurodevelopmental problems, and 2.1-7.6% of the malformations which were undiagnosed before birth. Importantly, 70-90% fetuses had normal outcomes. A detailed two-step anomaly scan including midgestation fetal echocardiography should be part of perinatal management of pregnancies with increased fetal NT. Data on relevant family history and persistence of nuchal edema provide additional relevant information for planning pregnancy management.

Original languageEnglish
Pages (from-to)426-436
Number of pages11
JournalClinical Genetics
Issue number5
StatePublished - Nov 2004


  • Euploid fetuses
  • Fetal abnormalities
  • Increased nuchal translucency
  • Pregnancy outcome


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