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Prenatal diagnosis in autosomal dominant Beckwith‐Wiedemann syndrome
Author(s) -
Viljoen D. L.,
Jaquire Z.,
Woods D. L.
Publication year - 1991
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.1970110306
Subject(s) - beckwith–wiedemann syndrome , medicine , prenatal diagnosis , pregnancy , obstetrics , fetus , pediatrics , ultrasonography , genetic counseling , prenatal ultrasound , neonatology , surgery , genetics , biology , gene expression , gene , dna methylation
A 20‐year‐old woman with Beckwith‐Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a diagnosis of BWS was obtained in the fetus and this was confirmed postnatally. Early ultrasound diagnosis enabled appropriate genetic counselling to be given; neonatal complications, such as hypoglycaemic episodes, were prevented.