Prenatal diagnosis of Beckwith-Wiedemann syndrome.
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.
Williams
Daniel H
DH
Department of Urology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois 60614, USA.
Gauthier
Daniel W
DW
Maizels
Max
M
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