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

IF 0.9 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING
Journal of Medical Ultrasound Pub Date : 2023-09-23 eCollection Date: 2024-07-01 DOI:10.4103/jmu.jmu_111_22
Susana Saraiva, M Solinho, C Lourenço, C Brito
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引用次数: 0

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.

畸形囊虫-微结肠-肠道蠕动减弱综合征:连续四次妊娠合并畸形囊肿。
巨孢子虫-微结肠-肠道蠕动减弱综合征是一种罕见的先天性疾病,预后和预期寿命都很差。我们介绍了四例连续发生在同一女性身上的产前诊断病例。经过医学遗传学会诊后,医生建议这对夫妇采用捐献卵母细胞的医学辅助生殖技术。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,以及产前诊断如何在父母咨询中发挥了重要作用。
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来源期刊
Journal of Medical Ultrasound
Journal of Medical Ultrasound RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.30
自引率
9.10%
发文量
90
审稿时长
10 weeks
期刊介绍: The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.
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