Document Detail

Hyperechogenic fetal bowel: a large French collaborative study of 682 cases.
MedLine Citation:
PMID:  12923859     Owner:  NLM     Status:  MEDLINE    
Hyperechogenic fetal bowel is detected in 0.1-1.8% of pregnancies during the second or third trimester. This ultrasound sign is associated with cystic fibrosis or other conditions (e.g., chromosomal anomalies, viral infection) but no large-scale prospective studies have been conducted. This 1997-1998 multicenter study in 22 molecular biology laboratories identified 682 cases of hyperechogenic fetal bowel detected by routine ultrasound examination during the second (86%) or third trimester. The fetal bowel was considered hyperechogenic when its echogenicity was broadly similar to, or greater than, that of the surrounding bone. Karyotyping, screening for viral infection, and screening for cystic fibrosis mutations were performed in all cases. Pregnancy outcome and postnatal follow-up were obtained in 656 of the 682 cases (91%). In 447 cases (65.5%), a normal birth was observed. Multiple malformations were observed in 47 cases (6.9%), a significant chromosomal anomaly was noted in 24 (3.5%), cystic fibrosis in 20 (3%), and viral infection in 19 (2.8%). In utero unexplained fetal death occurred in 1.9% of cases, toxemia in 1.2%, IUGR in 4.1%, and premature birth in 6.2%. This study demonstrates that this ultrasound sign is potentially associated with medically significant outcomes. Having established that the bowel is hyperechogenic, recommended investigations should include a detailed scan with Doppler measurements, fetal karyotyping, cystic fibrosis screening, and infectious disease screening. After birth, newborns require pediatric examination because a surgical treatment may be necessary. This should be combined with clear counseling of the parents.
B Simon-Bouy; V Satre; C Ferec; M C Malinge; E Girodon; E Denamur; N Leporrier; P Lewin; F Forestier; F Muller;
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Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  121A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-08-18     Completed Date:  2003-12-12     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  209-13     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
SESEP, Université de Versailles, Versailles, France.
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MeSH Terms
Chromosome Aberrations
Cystic Fibrosis / diagnosis,  genetics
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Fetal Diseases / ultrasonography*
Fetal Growth Retardation
Gastrointestinal Diseases / ultrasonography*
Gastrointestinal Tract / abnormalities*,  embryology*,  ultrasonography
Infant, Newborn
Predictive Value of Tests
Pregnancy Outcome
Pregnancy Trimester, Second
Prospective Studies
Risk Factors
Ultrasonography, Prenatal*
Reg. No./Substance:
0/CFTR protein, human; 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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