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

Kjersti M. Aagaard-Tillery, Alan Buchbinder, Mathew P. Boente, Kirk D Ramin

Research output: Contribution to journalArticle

11 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)18-22
Number of pages5
JournalFetal Diagnosis and Therapy
Volume22
Issue number1
DOIs
StatePublished - Dec 1 2006

Keywords

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

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