Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis.
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.
Muller
Françoise
F
Biochimie Hormonale, Hôpital Robert Debré, Paris, France. francoise.muller@rdb.ap-hop-paris.fr
Dreux
Sophie
S
Vaast
Pascal
P
Dumez
Yves
Y
Nisand
Israel
I
Ville
Yves
Y
Boulot
Pierre
P
Guibourdenche
Jean
J
Althusser
Marc
M
Blin
Gérard
G
Gautier
Evelyne
E
Lespinard
Catherine
C
Perrotin
Franck
F
Poulain
Patrice
P
Sarramon
Marie-France
MF
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
D004798:Enzymes