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Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were identified, but the diagnosis not made until after delivery. MMIHS is a rare autosomal recessive condition which is usually lethal in the first year of life. Prenatal diagnosis is hampered by the lack of specific diagnostic findings on ultrasound and the absence of an identified genetic locus. The prenatal findings in MMIHS are reviewed and contrasted with those of other causes of lower abdominal masses on antenatal ultrasound.

Type

Journal article

Journal

Prenat Diagn

Publication Date

09/2000

Volume

20

Pages

697 - 700

Keywords

Abnormalities, Multiple, Adult, Colon, Consanguinity, Female, Humans, Infant, Newborn, Male, Peristalsis, Pregnancy, Ultrasonography, Prenatal, Urinary Bladder