Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Four Consecutive Pregnancies with Megacystis

Abstract

Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare congenital disease with a poor prognosis and life expectancy. We present the prenatal diagnosis of four consecutive cases in the same woman. After medical genetics consultation, the couple was advised to resort to medically assisted reproduction techniques with oocyte donation. This case report demonstrates the recurrence of a rare disease in four consecutive pregnancies and how prenatal diagnosis assumed a preponderant role in parental counseling.

Keywords

• berdon syndrome
• megacystis
• megacystis-microcolon-intestinal hypoperistalsis syndrome