{"title":"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。","authors":"Susana Saraiva, M Solinho, C Lourenço, C Brito","doi":"10.4103/jmu.jmu_111_22","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2023-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414953/pdf/","citationCount":"0","resultStr":"{\"title\":\"Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Four Consecutive Pregnancies with Megacystis.\",\"authors\":\"Susana Saraiva, M Solinho, C Lourenço, C Brito\",\"doi\":\"10.4103/jmu.jmu_111_22\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":45466,\"journal\":{\"name\":\"Journal of Medical Ultrasound\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2023-09-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11414953/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Medical Ultrasound\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jmu.jmu_111_22\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Medical Ultrasound","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jmu.jmu_111_22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
Megacystis-microcolon-intestinal Hypoperistalsis Syndrome: Four Consecutive Pregnancies with Megacystis.
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.
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.