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
{"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}
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.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
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.
期刊最新文献
CME Test. Comparison between Handheld Echocardiography and Cardiac Magnetic Resonance for Stroke Volume and Left Ventricular Ejection Fraction Quantification. Dissimilar Planes and Approaches with Common Neural Targets - A Cadaveric Evaluation of Three Different Ultrasound-guided Fascial Plane Blocks for Lumbar Plexus Nerves. Early Prenatal Detection of Recessive Split-hand/Foot Malformation Caused by a Homozygous Variant of WNT10B. Health-care Professionals' Perspectives on Ultrasound Evaluation of Arteriovenous Hemodialysis Fistula: A Narrative Review.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1