Document Detail

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.
MedLine Citation:
PMID:  22905304     Owner:  NLM     Status:  PubMed-not-MEDLINE    
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal period on the basis of physical exam features and hypermethylation of the H19 gene.
CASE: A 30-year-old woman gravida 3, para 2, underwent maternal serum screening at 15 weeks' gestation. The screening was negative for Down's syn drome (risk 1/6085), but positive for NTDs. Further ultrasound examination at 20 and 30 weeks' evidenced a fetal overgrowth and a 3-D scan at 33 weeks' gestation presented a protruding tongue, and a fixed opened mouth caused by macroglossia.
CONCLUSIONS: BWS was suspected on the basis of clinical features, and molecular analysis of critical region 11p15.5 revealing the hypermethylation of H19 gene supported the diagnosis.
Paolo Guanciali-Franchi; Luisa Di Luzio; Irene Iezzi; Claudio Celentano; Barbara Matarrelli; Marco Liberati; Giandomenico Palka
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of prenatal medicine     Volume:  6     ISSN:  1971-3290     ISO Abbreviation:  J Prenat Med     Publication Date:  2012 Jan 
Date Detail:
Created Date:  2012-08-20     Completed Date:  2012-08-23     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101522906     Medline TA:  J Prenat Med     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  7-9     Citation Subset:  -    
Department of Medical Genetics, University "G. D'Annunzio", Chieti, Italy.
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