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.
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.
Authors: F R Grati; L Turolla; P D'Ajello; A Ruggeri; M Miozzo; G Bracalente; D Baldo; L Laurino; R Boldorini; E Frate; N Surico; L Larizza; F Maggi; G Simoni Journal: J Med Genet Date: 2007-01-26 Impact factor: 6.318