Paper

Beckwith-Wiedemann Syndrome Presenting with an Elevated Triple Screen in the Second Trimester of Pregnancy
Kjersti M. Aagaard-Tillery^{a, c}, Alan Buchbinder^c, Mathew P. Boente^b, Kirk D. Ramin^a

Divisions of
^aMaternal-Fetal Medicine and
^bGynecologic Oncology, Department of Obstetrics and Gynecology, University of Minnesota, and
^cHennepin County Medical Center, Minneapolis, Minn., USA

Address of Corresponding Author

Fetal Diagn Ther 2007;22:18-22 (DOI: 10.1159/000095837)

  Key Words

• Beckwith-Wiedemann syndrome
• Abnormal maternal serum screen
• Elevated maternal serum alpha-fetoprotein

  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.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Kirk D. Ramin, MD
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine
MMC 395, University of Minnesota, 420 Delaware Street SE
Minneapolis, MN 55455 (USA)
Tel. +1 612 626 3111, Fax +1 612 626 0665, E-Mail ramin003@umn.edu

  Article Information

This work was presented in part at the American College of Obstetrics and Gynecology Annual Clinical Meeting 'Stump the Professors' in Philadelphia, Pa., USA, May 4th 2004.

Received: September 5, 2005
Accepted after revision: February 10, 2006
Published online: September 21, 2006
Number of Print Pages : 5
Number of Figures : 0, Number of Tables : 2, Number of References : 18