title: Prenatal diagnosis of Beckwith-Wiedemann syndrome.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Urology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA.
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Williams
authors.forename: Daniel W
authors.initials: DW
authors.lastname: Gauthier
authors.forename: Max
authors.initials: M
authors.lastname: Maizels
mesh_terms: D000302:Adrenal Cortex / Q000473:pathology; D000328:Adult; D000649:Amniocentesis; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000473:pathology; D005260:Female; D005865:Gestational Age; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging; D006801:Humans; D007679:Kidney Medulla / Q000473:pathology; D016239:MEDLINE; D008260:Macroglossia / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal