Significance of septations in isolated fetal cystic hygroma detected in the first trimester

Lee P. Shulman*, Nabil A. Raafat, Phyllis C. Mace, Donald S. Emerson, Richard E. Felker, Joe Leigh Simpson, Sherman Elias

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Recent reports have indicated an increased risk for fetal chromosome abnormalities, especially autosomal trisomy, in fetuses with isolated cystic hygroma, or prominent nuchal membranes, detected by ultrasonography during the first trimester. However, these reports present contradictory information regarding the prognostic significance of septations within the cystic hygroma. We evaluated, in blind fashion, 55 consecutive cases of isolatd fetal cystic hygroma detected at or before 13·9 weeks' gestation to determine the association between septations and fetal chromosome complement. Septations were associated (P<0·05) with an increased risk for fetal chromosome abnormalities. However, the incidence of chromosome abnormalities was also increased (12·5 per cent) among cases not characterized by septations. Thus, we believe it prudent to offer invasive prenatal testing to all women found to be carrying fetuses with cystic hygroma, irrespective of the presence or absence of septations.

Original languageEnglish (US)
Pages (from-to)223-226
Number of pages4
JournalPrenatal Diagnosis
Issue number3
StatePublished - Mar 1994


  • Cystic hygroma
  • first trimester
  • prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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