Does a 'notched' nuchal translucency indicate Down syndrome fetuses or other adverse pregnancy outcome?

Ron Maymon*, Eli Dreazen, Ian Buckovsky, Zwi Weinraub, Arie Herman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


The aim of the present study was to assess the sonographic contour of the increased nuchal translucency (NT) and to correlate this with pregnancy outcome. Fifty sonographic images of fetuses with increased NT [>95th centile thickness of the normal range for crown-rump length (CRL) between 38 and 84 mm] were retrospectively assessed. In all the cases a complete pregnancy and even infancy follow-up (<36 months) was available. The NT appearances were subdivided into two forms: a 'notched' or 'uniform' appearance. The images were correlated with karyotype results [trisomy 21 (DS) vs euploid cases] and pregnancy outcome. Complicated outcomes were classified as being either DS fetuses, miscarriage or termination of pregnancy because of structural anomaly. Thus 30/35 (86%) of the euploid fetuses had a 'uniformly' increased NT, whereas 8/13 DS cases (62%) had a 'notched' appearance (Fisher's exact test, p=0.004). Additionally, 27/29 fetuses (93%) which had an uneventful pregnancy outcome had a 'uniform' increased NT, whereas 12/26 (57%) of the fetuses which had adverse pregnancy outcome had a 'notched' appearance of their NT (Fisher's exact test, p<0.001). Although it was not possible to correlate the sonographic data with post-evacuation microdissection findings, it is possible that a uniformly shaped, increased NT may be more representative of a developmental delay in a normal fetus. Conversely, a 'notched' nuchal surface may represent abnormal lymphatic or cardiovascular development more commonly seen in DS fetuses.

Original languageEnglish
Pages (from-to)403-408
Number of pages6
JournalPrenatal Diagnosis
Issue number5
StatePublished - 2001


  • Down syndrome fetus
  • Fetal outcome
  • Nuchal translucency
  • Ultrasound


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