Prenatal diagnosis of non‐obstructive megacystis as part of the megacystis‐microcolon‐intestinal hypoperistalsis syndrome with favourable postnatal outcome

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

“…Evidence strongly supports that MMIHS obeys an autosomal recessive inheritance pattern, with 25% recurrence in future pregnancies after the birth of an affected offspring [1,5,13,19]. Consanguinity in affected families has been described, further supporting autosomal recessive inheritance [3].…”

“…While the data from this review indicate that prenatal diagnosis was successfully established in less than one third of reported cases, the presence of a previously affected sibling greatly facilitated correct diagnosis. In a few cases, the syndrome was correctly diagnosed based solely upon the combination of genitourinary and gastrointestinal findings [13,14,18,24]. Munch et al [17] described a successful prenatal diagnosis with a combination of ultrasonography and fetal MRI, which revealed additional gastrointestinal features (microcolon and dilated esophagus) not detected by ultrasound alone.…”

“…Fetal megacystis was most commonly detected in the second trimester; however, visualization was possible at as early as 12 weeks of gestation [9]. The typical MMIHS bladder appearance is usually of a large atonic bladder with thin walls that tends to progressively enlarge during pregnancy [13,14,16]. Bladder dimensions can become massive, extending into the abdomen and displacing the diaphragm.…”

“…The diagnosis is infrequently considered prior to birth in the absence of a previously affected sibling [13,14,15,16,17,18]. We systematically reviewed the published literature for postnatally confirmed cases of MMIHS that reported prenatal ultrasonographic findings.…”

Spontaneous resolution of isolated congenital megacystis: The incredible shrinking bladder

“…The outcomes of conditions related to megacystis such as MMHIS are generally poor,[6, 7, 9] however some children do not follow this trend. [10] In addition, ICM tends to have a favorable prognosis compared with megacystis contained within the context of a larger syndrome. [2–4] Parents can thus be presented with the range of possibilities based on the prenatal ultrasound, but exact prognostication is nearly impossible.…”