Amniocentesis Research Today is a free monthly online journal that collates and summarizes the latest research about Amniocentesis, including details on pregnancy, prenatal screening, diagnosis, risks, down syndrome.

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

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

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Minnesota, Minneapolis, USA.

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.

Published 28 December 2006 in Fetal Diagn Ther, 22(1): 18-22.
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