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Prenatal diagnosis of Beckwith–Wiedemann syndrome
Author(s) -
Williams Daniel H.,
Gauthier Daniel W.,
Maizels Max
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1155
Subject(s) - beckwith–wiedemann syndrome , macroglossia , medicine , polyhydramnios , prenatal diagnosis , omphalocele , pediatrics , obstetrics , pregnancy , fetus , pathology , tongue , genetics , gene expression , gene , dna methylation , biology
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. Copyright © 2005 John Wiley & Sons, Ltd.