Ultrasound imaging of fetal neck anomalies: Implications for the risk of aneuploidy and structural anomalies

Etan Z. Zimmer, Arie Drugan, Chagit Ofir, Shraga Blazer, Moshe Bronshtein

Research output: Contribution to journalArticlepeer-review

Abstract

This study summarizes 24,000 transvaginal ultrasound examinations which were performed in a predominantly low-risk population at 14-16 weeks' gestation. 1254 (5.2 per cent) fetuses had a nuchal fold or a non-septated cystic hygroma. Of these fetuses, 140 (11.1 per cent) had additional structural anomalies. Cardiovascular anomalies were the most commonly detected structural malformations. Forty-three (3.4 per cent) fetuses were aneuploid. Trisomy 21 was the most common chromosomal anomaly (n = 27). Aneuploidy was significantly more common in fetuses who had a nuchal finding and an associated structural anomaly. The prevalence of nuchal fold and non-septated cystic hygroma, as well as the incidence of their associated structural anomalies, was similar. Based on these data, it is concluded that a complete ultrasonic survey of the fetus and karyotyping are advocated in fetuses with a nuchal abnormality, irrespective of maternal age or triple serum screening results.

Original languageEnglish
Pages (from-to)1055-1058
Number of pages4
JournalPrenatal Diagnosis
Volume17
Issue number11
DOIs
StatePublished - Nov 1997
Externally publishedYes

Keywords

  • Aneuploidy
  • Fetal malformations
  • Non-septated cystic hygroma
  • Nuchal fold
  • Septated hygroma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

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