Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy.

Abstract:

BACKGROUND:Beckwith-Wiedemann syndrome (BWS) is a distinct clinical syndrome with unique features, generally diagnosed postnatally. CASE:A 26-year-old patient, gravida 4, para 3-0-0-3, was noted to have an abnormal maternal serum screen. Amniocentesis with imaging studies were remarkable only for a two-vessel umbilical cord and prominent maternal ovaries. The patient developed HELLP syndrome at 28 weeks and delivered a viable female infant with distinct clinical features. The diagnosis of BWS was confirmed by hypermethylation of the H19 gene on chromosome 11p15.5. CONCLUSION:This case describes a novel presentation of BWS and underscores the diagnostic potential of routine prenatal screens.

journal_name

Fetal Diagn Ther

authors

Aagaard-Tillery KM,Buchbinder A,Boente MP,Ramin KD

doi

10.1159/000095837

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

18-22

issue

1

eissn

1015-3837

issn

1421-9964

pii

95837

journal_volume

22

pub_type

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