| Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy. | |
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MedLine Citation:
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PMID: 17003550 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Kjersti M Aagaard-Tillery; Alan Buchbinder; Mathew P Boente; Kirk D Ramin |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-09-21 |
Journal Detail:
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Title: Fetal diagnosis and therapy Volume: 22 ISSN: 1015-3837 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2007 |
Date Detail:
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Created Date: 2006-12-28 Completed Date: 2007-02-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
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Languages: eng Pagination: 18-22 Citation Subset: IM |
Affiliation:
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Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Minnesota, Minneapolis, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Beckwith-Wiedemann Syndrome / diagnosis* Female Humans Infant, Newborn Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis / methods* alpha-Fetoproteins / metabolism |
| Chemical | |
Reg. No./Substance:
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0/alpha-Fetoproteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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