Prenatal diagnosis of Beckwith-Wiedemann syndrome

Daniel H. Williams, Daniel W. Gauthier, Max Maizels*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

63 Scopus citations


Objectives: The diagnosis of Beckwith-Wiedemann syndrome (BWS) typically is made after birth. To our knowledge, no established guidelines exist for the prenatal diagnosis of this condition. We present two new cases of prenatally diagnosed BWS and propose a diagnostic schema. Methods: Published reports obtained from Medline searches were reviewed and combined with our cases. Results: Our proposed schema of two major criteria (abdominal wall defect, macroglossia, macrosomia) or one major plus two minor criteria (nephromegaly/dysgenesis, adrenal cytomegaly, aneuploidy/abnormal loci, polyhydramnios) fits all published reports of prenatally diagnosed BWS. Conclusion: The prenatal diagnosis of BWS can be reliably made by applying our proposed guidelines. This schema allows for uniform fetal diagnosis of the syndrome and helps prepare for prenatal counseling and peri- and post-natal management strategies.

Original languageEnglish (US)
Pages (from-to)879-884
Number of pages6
JournalPrenatal Diagnosis
Issue number10
StatePublished - Oct 1 2005


  • Beckwith-Wiedemann syndrome
  • Fetal ultrasound
  • Macroglossia
  • Omphalocele
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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