Document Detail


Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.
MedLine Citation:
PMID:  15791664     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a usually lethal disease during the first year of life. There is no specific ultrasound prenatal diagnosis and no identified genetic locus. The value of amniotic fluid digestive enzyme assay and fetal urine biochemistry in the prediction of MMIHS was analysed. METHODS: Retrospective study of 14 MMIHS cases. Amniotic fluid digestive enzymes and fetal urine biochemistry were compared in MMIHS and megabladder (63 and 264 cases respectively). RESULTS: Abnormal amniotic fluid digestive enzyme profile (vomiting of bile or digestive secretion leakage) was observed in 8/10 MMIHS cases. These profiles were observed in 7/63 controls; 80% sensitivity (95%CI = 55%-100%); 89% specificity (95%CI = 81%-96%). Fetal urinalysis was normal in 12/12 MMIHS cases except high calcium (>0.6 mmol/l). This profile was observed in 33/264 megabladder control cases; 100% sensitivity; 98.7% specificity (95%CI = 83.5%-91.5%). CONCLUSION: For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.
Authors:
Françoise Muller; Sophie Dreux; Pascal Vaast; Yves Dumez; Israel Nisand; Yves Ville; Pierre Boulot; Jean Guibourdenche; Marc Althusser; Gérard Blin; Evelyne Gautier; Catherine Lespinard; Franck Perrotin; Patrice Poulain; Marie-France Sarramon;
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  25     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-04-04     Completed Date:  2005-08-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  203-9     Citation Subset:  IM    
Copyright Information:
Copyright 2005 John Wiley & Sons, Ltd.
Affiliation:
Biochimie Hormonale, Hôpital Robert Debré, Paris, France. francoise.muller@rdb.ap-hop-paris.fr
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Amniotic Fluid / chemistry*
Child
Child, Preschool
Enzymes / analysis
Female
Fetal Diseases / diagnosis*,  urine
Humans
Infant
Infant, Newborn
Intestinal Pseudo-Obstruction / diagnosis*,  urine
Male
Predictive Value of Tests
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis / methods*
Retrospective Studies
Urine / chemistry
Chemical
Reg. No./Substance:
0/Enzymes

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