Document Detail


Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France.
MedLine Citation:
PMID:  20932506     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Pregnancies medical follow-up and ultrasonography development have enabled detection of fetal echogenic bowel, a sign associated with various pathologies, including cystic fibrosis. Based on the long experience of a region where cystic fibrosis is frequent (Brittany, France), we describe disorders diagnosed in fetal echogenic bowel fetuses and assess ultrasonography ability in detecting cystic fibrosis in utero.
STUDY DESIGN: We reviewed the cases of fetal echogenic bowel diagnosed in pregnant women living in Brittany and referred for CFTR gene analysis over the 1992-2007 period (n = 289).
RESULTS: A disorder was diagnosed in 32.2% of the fetuses, cystic fibrosis being the most commonly identified (7.6%). We also found digestive malformations (7.0%), chromosomal abnormalities (3.7%), and maternofetal infections (3.7%). Combining these data with our ongoing newborn screening program since 1989 showed that ultrasonography enabled diagnosis of 10.7% of the cystic fibrosis cases.
CONCLUSION: This study highlights the importance of pregnancy ultrasound examinations and their efficiency in detecting cystic fibrosis.
Authors:
Virginie Scotet; Ingrid Duguépéroux; Marie-Pierre Audrézet; Séverine Audebert-Bellanger; Matthieu Muller; Martine Blayau; Claude Férec
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-10-08
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  203     ISSN:  1097-6868     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-11-29     Completed Date:  2011-01-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370476     Medline TA:  Am J Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  592.e1-6     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2010 Mosby, Inc. All rights reserved.
Affiliation:
Inserm U613, Faculté de Médecine et des Sciences de Santé, Université Brest, Etablissement Français du Sang Bretagne, Brest, France.
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MeSH Terms
Descriptor/Qualifier:
Cohort Studies
Cystic Fibrosis / epidemiology,  genetics*,  ultrasonography*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Echogenic Bowel / epidemiology,  ultrasonography*
Female
France / epidemiology
Gestational Age
Humans
Incidence
Pregnancy
Retrospective Studies
Risk Assessment
Time Factors
Ultrasonography, Prenatal*
Chemical
Reg. No./Substance:
126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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