Abnormal nuchal findings on screening ultrasonography: Aneuploidy stratification on the basis of ultrasonographic anomaly and gestational age at detection

Jr Landwehr, M. P. Johnson, R. F. Hume, Y. Yaron, R. J. Sokol, M. I. Evans

Research output: Contribution to journalArticlepeer-review

Abstract

OBJECTIVE: Our purpose was to determine the specific likelihood of different aneuploidies by gestational age in patients with nuchal folds and simple and septated nuchal membranes. STUDY DESIGN: Retrospective database analysis was performed of 158 consecutive patients with a nuchal fold or simple or septated nuchal membrane on either abdominal or vaginal ultrasonography. RESULTS: Thirty-eight patients with nuchal folds, 65 with simple nuchal membranes, and 55 with septated nuchal membranes were evaluated. Septated nuchal membranes were associated with the highest incidence of karyotypic abnormalities (>50%). A peak incidence of trisomy 21 (27%) was found in the early midtrimester, leveling off to 11% by the late midtrimester. The late first trimester had a high incidence of trisomy 18 (22%), occurring more frequently than 45,X. CONCLUSION: Ultrasonographic anomalies in the posterior neck are associated with aneuploidy from 21% to 58% of the patients in this selected population. Each anomaly has different risks for aneuploidy type, varying with gestational age at diagnosis.

Original languageEnglish
Pages (from-to)995-999
Number of pages5
JournalAmerican Journal of Obstetrics and Gynecology
Volume175
Issue number4 I
DOIs
StatePublished - 1996
Externally publishedYes

Keywords

  • Nuchal fold
  • aneuploidy
  • cystic hygroma
  • nuchal membrane
  • ultrasonographic anomalies

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