Severe uropathy and normal amniotic fluid volume in a male fetus: sonographic surveillance leading to the diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome.

[megacystis-microcolon-intestinal hypoperistalsis syndrome]

The widespread use of sonography as a screening tool for fetal anomalies has facilitated prenatal detection of several fetal conditions characterized by urinary tract dilatation . These conditions are more common in male fetuses and are generally a result of an anatomic defect causing obstruction along the urinary tract system . Although the prognosis of these conditions largely depends on the specific anomaly , several poor prognostic factors have been described . These factors include detection at an early gestational age , bilateral marked dilatation , a persistently obstructed bladder , oligohydramnios causing pulmonary hypoplasia , and the presence of associated fetal or chromosomal anomalies . We report a case in which a male fetus at 14 weeks ' gestation had a diagnosis of rapidly progressing bilateral hydronephrosis , massive bladder dilatation , hydroureter , and a surprisingly normal amniotic fluid volume . Serial sonographic surveillance assisted us in obtaining the correct diagnosis , which was important for adequately consulting the patient regarding the fetal prognosis in the affected index pregnancy as well as the likelihood of recurrence in future gestations .