Prenatal diagnosis in autosomal dominant Beckwith‐Wiedemann syndrome | Zendy

Viljoen D. L. | Zendy; Jaquire Z. | Zendy; Woods D. L. | Zendy

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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.

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