Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome

Prenat Diagn. 1991 Mar;11(3):167-75. doi: 10.1002/pd.1970110306.


A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Beckwith-Wiedemann Syndrome / diagnostic imaging*
  • Birth Weight
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Hepatomegaly / diagnostic imaging
  • Humans
  • Macroglossia / diagnostic imaging
  • Macrostomia / diagnostic imaging
  • Polyhydramnios / diagnostic imaging
  • Pregnancy
  • Pregnancy Trimester, Second
  • Ultrasonography, Prenatal*