Saraiva Susana, Solinho M, Lourenço C, Brito C
Department of Gynecology and Obstetrics, Centro Hospitalar de Entre Douro e Vouga, Santa Maria Da Feira, Portugal.
Department of Gynecology and Obstetrics, Hospital Distrital De Santarém, EPE, Santarém, Portugal.
J Med Ultrasound. 2023 Sep 23;32(3):255-258. doi: 10.4103/jmu.jmu_111_22. eCollection 2024 Jul-Sep.
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.
巨膀胱-小结肠-肠蠕动减少综合征是一种预后不良、预期寿命短的罕见先天性疾病。我们报告了同一女性连续四例的产前诊断情况。经过医学遗传学咨询，建议这对夫妇采用卵母细胞捐赠的辅助生殖技术。本病例报告展示了一种罕见疾病在连续四次妊娠中的复发情况，以及产前诊断在为父母提供咨询方面如何发挥了重要作用。
