Prenatal diagnosis of megacystis‐microcolon‐intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis

Müller, Françoise; Dreux, Sophie; Vaast, P.; Dumez, Yves; Nisand, I.; Ville, Y.; Boulot, P.; Gadrey, Jean

doi:10.1002/pd.1088

Cited by 41 publications

(20 citation statements)

References 22 publications

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“…MMIHS can be prenatally diagnosed on the basis of amniotic fluid digestive enzyme and fetal urinalysis. 18 Biochemical fetal urine analysis can also be used to rule out a fistula between the urinary and digestive tracts. 19 In conclusion, LUTO is the main etiology of megacystis.…”

Section: Discussionmentioning

confidence: 99%

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

et al. 2013

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Section: Discussionmentioning

confidence: 99%

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

et al. 2013

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“…Isolated renal hydronephrosis preceded the development of megacystis in a subset of reported cases [14,15,27,28] including our own prenatally diagnosed case. As such, isolated bilateral hydronephrosis may be an early marker of the syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Given urinary analyte profiles indicating preserved renal function in MMIHS cases undergoing vesicocentesis [28], there does not appear to be a clear indication for prenatal vesicocentesis or vesicoamniotic shunt placement. These findings are further supported by the fact that MMIHS is rarely associated with significant renal impairment at birth.…”

Section: Discussionmentioning

confidence: 99%

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Tuzović¹,

Anyane‐Yeboa²,

Mills³

et al. 2014

Fetal Diagn Ther

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Objective: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). Methods: A PubMed search was performed using the terms ‘MMIHS', ‘MMIH' and ‘prenatal diagnosis'. Results: A total of 50 cases were analyzed. Prenatal diagnosis was achieved in 26% of cases. In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling. Fetal megacystis with or without hydroureteronephrosis was the most common initial ultrasonographic finding (88%). While megacystis eventually complicated all fetal presentations, isolated bilateral hydronephrosis and isolated dilated stomach were noted (in 10 and 2% of cases, respectively) prior to megacystis. The initial sonographic abnormality was most commonly detected (in 70% of patients) in the second trimester. Amniotic fluid was normal in 69% and increased in 27% of cases. Gastrointestinal abnormalities were noted in 24% of pregnancies. Conclusion: MMIHS should be prenatally suspected when fetal megacystis is associated with a normal or increased amount of amniotic fluid and normal external genitalia, especially in the setting of a suggestive family history. Associated gastrointestinal findings support this diagnosis. Isolated bilateral hydronephrosis may precede the development of megacystis. Due to preserved renal function and a general absence of oligohydramnios, no rationale exists for vesicoamniotic shunt placement.

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“…These analytes suggest fetal vomiting of bile and intestinal contents containing digestive enzymes. Fetal urinalysis was normal except for high calcium levels (>0.6 mmol/l) in all cases [12]. With these predictive valves, amniotic fluid analysis may be considered as an adjuvant investigation for accurate diagnosis and may be warranted for optimal prenatal counseling.…”

Section: Discussionmentioning

confidence: 99%

“…As MMIHS involves bowel and urinary systems in the fetus, some investigators have studied amniotic fluid digestive enzymes and fetal urine biochemistry as a predictor of this condition. Analysis has shown that an abnormal amniotic fluid digestive enzyme profile characterized by γ-glutamyl transpeptidase and aminopeptidase M ≥99th percentile associated with normal intestinal alkaline phosphatase levels were observed in the majority of cases with 80% sensitivity and 89% specificity for prediction of this condition when compared to controls [12]. These analytes suggest fetal vomiting of bile and intestinal contents containing digestive enzymes.…”

Section: Discussionmentioning

confidence: 99%

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature

Sousa¹,

Upadhyay

Stone

2015

Fetal Diagn Ther

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Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility. Here we present two additional cases to contribute towards the scant literature on this condition.

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Prenatal diagnosis of megacystis‐microcolon‐intestinal hypoperistalsis syndrome: contribution of amniotic fluid digestive enzyme assay and fetal urinalysis

Abstract: For the first time, we propose a prenatal diagnosis of MMIHS based on amniotic fluid digestive enzyme assay and on fetal urinalysis.

Cited by 41 publications

References 22 publications

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

Outcome and etiologies of fetal megacystis according to the gestational age at diagnosis

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature

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