Early sonographic detection of recurrent fetal eye anomalies

R. Mashiach*, D. Vardimon, B. Kaplan, J. Shalev, I. Meizner

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

40 Scopus citations

Abstract

Objective: To determine the possible association between congenital eye anomaly of a previous child in the family and current congenital eye anomaly. Methods: An early transvaginal anomaly scan at 14-16 gestational weeks was used to diagnose fetal eye anomalies in five cases in which at least one previous child in the family had the same congenital eye anomaly. Results: At least one cataract was detected in four of the five fetuses and bilateral anophthalmia in one. The congenital cataract in one case was part of multiple pterygium syndrome. Both of these extremely rare malformations are commonly associated with other fetal anomalies. Conclusion: Our data suggest that a detailed targeted ultrasound survey with a special focus on the orbital region should be offered at the time of genetic counseling to couples with children with congenital eye anomalies.

Original languageEnglish
Pages (from-to)640-643
Number of pages4
JournalUltrasound in Obstetrics and Gynecology
Volume24
Issue number6
DOIs
StatePublished - Nov 2004

Keywords

  • Eye anomalies
  • Fetal
  • Prenatal diagnosis
  • Recurrent
  • Ultrasound

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