title: Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.
abstract: OBJECTIVE
  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%).
  
  
  CONCLUSIONS
  For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.
authors.affiliation: Biochimie Hormonale, Hôpital Robert Debré, Paris, France. francoise.muller@rdb.ap-hop-paris.fr
authors.forename: Françoise
authors.initials: F
authors.lastname: Muller
authors.forename: Sophie
authors.initials: S
authors.lastname: Dreux
authors.forename: Pascal
authors.initials: P
authors.lastname: Vaast
authors.forename: Yves
authors.initials: Y
authors.lastname: Dumez
authors.forename: Israel
authors.initials: I
authors.lastname: Nisand
authors.forename: Yves
authors.initials: Y
authors.lastname: Ville
authors.forename: Pierre
authors.initials: P
authors.lastname: Boulot
authors.forename: Jean
authors.initials: J
authors.lastname: Guibourdenche
authors.forename: Marc
authors.initials: M
authors.lastname: Althusser
authors.forename: Gérard
authors.initials: G
authors.lastname: Blin
authors.forename: Evelyne
authors.initials: E
authors.lastname: Gautier
authors.forename: Catherine
authors.initials: C
authors.lastname: Lespinard
authors.forename: Franck
authors.initials: F
authors.lastname: Perrotin
authors.forename: Patrice
authors.initials: P
authors.lastname: Poulain
authors.forename: Marie-France
authors.initials: MF
authors.lastname: Sarramon
mesh_terms: D000293:Adolescent; D000653:Amniotic Fluid / Q000737:chemistry*; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000032:analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis* / Q000652:urine; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014556:Urine / Q000737:chemistry
chemical_list: D004798:Enzymes