Early sonographic detection of recurrent fetal eye anomalies

Ultrasound Obstet Gynecol. 2004 Nov;24(6):640-3. doi: 10.1002/uog.1748.


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.

MeSH terms

  • Anophthalmos / diagnostic imaging
  • Anophthalmos / genetics
  • Cataract / diagnostic imaging
  • Cataract / genetics
  • Early Diagnosis
  • Eye Abnormalities / diagnostic imaging*
  • Eye Abnormalities / genetics
  • Family Health
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / genetics
  • Gestational Age
  • Humans
  • Pedigree
  • Pregnancy
  • Ultrasonography, Prenatal / methods*