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Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings.
Fetal Diagn Ther. 2014; 36(1):74-80.FD

Abstract

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.

Authors+Show Affiliations

Division of Clinical Genetics, Columbia University Medical Center, New York, N.Y., USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

24577413

Citation

Tuzovic, Lea, et al. "Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings." Fetal Diagnosis and Therapy, vol. 36, no. 1, 2014, pp. 74-80.
Tuzovic L, Anyane-Yeboa K, Mills A, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagn Ther. 2014;36(1):74-80.
Tuzovic, L., Anyane-Yeboa, K., Mills, A., Glassberg, K., & Miller, R. (2014). Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. Fetal Diagnosis and Therapy, 36(1), 74-80. https://doi.org/10.1159/000357703
Tuzovic L, et al. Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Case Report and Review of Prenatal Ultrasonographic Findings. Fetal Diagn Ther. 2014;36(1):74-80. PubMed PMID: 24577413.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings. AU - Tuzovic,Lea, AU - Anyane-Yeboa,Kwame, AU - Mills,Ashley, AU - Glassberg,Kenneth, AU - Miller,Russell, Y1 - 2014/02/21/ PY - 2013/08/02/received PY - 2013/12/03/accepted PY - 2014/3/1/entrez PY - 2014/3/1/pubmed PY - 2015/3/31/medline SP - 74 EP - 80 JF - Fetal diagnosis and therapy JO - Fetal Diagn Ther VL - 36 IS - 1 N2 - 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. SN - 1421-9964 UR - https://www.unboundmedicine.com/medline/citation/24577413/Megacystis_microcolon_intestinal_hypoperistalsis_syndrome:_case_report_and_review_of_prenatal_ultrasonographic_findings_ L2 - https://www.karger.com?DOI=10.1159/000357703 DB - PRIME DP - Unbound Medicine ER -