与胎儿巨膀胱相关的综合征和单基因疾病（一）：巨膀胱-小肠细动不足综合征（MMIHS）。

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).

机构信息

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2024 Jan;63(1):19-21. doi: 10.1016/j.tjog.2023.11.007.

DOI:10.1016/j.tjog.2023.11.007

PMID:38216263

Abstract

Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.

摘要

胎儿巨膀胱曾被报道与染色体异常、巨膀胱-小结肠-肠蠕动不良综合征（MMIHS）、梗阻性尿路病、脐膨出、直肠肛门畸形、腔静脉后输尿管、前肠发育不良、肢体-体壁综合征、羊膜带综合征、肛门直肠畸形、VACTERL 联合征（椎体异常、肛门闭锁、心脏畸形、气管食管瘘、肾脏异常和肢体异常）和胎儿过度生长综合征（如 Beckwith-Wiedemann 综合征和 Sotos 综合征）相关。本综述提供了与胎儿巨膀胱相关的综合征和单基因疾病的概述，这对胎儿巨膀胱产前诊断的遗传咨询很有用。