超雌综合征的临床认知  

Clinical cognition of superfemale syndrome

作　　者：曾照敏 余海燕 Zeng Zhaomin;Yu Haiyan(Department of Obstetrics and Gynecology,Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 61004l,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院妇产科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2023年第2期145-150,共6页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：四川省自然科学基金项目(2022NSFSC0659)。

摘　　要：走超雌综合征(superfemale syndrome)是一种性染色体非整倍体(SCA)的性染色体三体综合征。该病患者性染色体核型多为47,XXX,其临床表型差异大。随着人们孕期保健意识的增强及产前诊断技术的发展与普及,超雌综合征胎儿的产前检出率逐渐增高。产前诊断胎儿合并超雌综合征后,需要多学科团队(MDT)专家评估胎儿预后,对妊娠夫妇提供详细、无偏倚的临床咨询。超雌综合征胎儿出生后,仍需要MDT协作,对患儿尽早进行必要的康复训练和临床干预。笔者拟对超雌综合征胎儿的遗传学背景、临床表型及诊断、是否继续妊娠选择、围产儿结局及其子代再发风险的相关研究最新进展进行阐述,旨在为该病患儿的临床咨询提供参考。Superfemale syndrome is a trisomy syndrome of sex chromosome aneuploidy(SCA).The karyotype of most patients with superfemale syndrome is 47,XXX,and their clinical phenotypes vary greatly.With the enhancement of people's awareness of health care during pregnancy,and development and popularization of prenatal diagnostic techniques,prenatal detection rate of fetuses with superfemale syndrome has increased.When prenatal diagnosis finds that fetus is complicated with superfemale syndrome,experts in multidisciplinary team(MDT)are required to evaluate fetal prognosis and provide detailed and unbiased clinical consultation for pregnant couples.After birth,fetuses with superfemale syndrome stll need MDT to conduct necessary rehabilitation training and clinical intervention as soon as possible.In this paper,latest research progresses on genetic background,clinical phenotype and diagnosis,pregnancy selection,perinatal outcome,and risk of recurrence of offspring with superfemale syndrome or not are described in order to provide reference to pregnant couples of clinical consultation.

关 键 词：超雌综合征 47 XXX染色体核型 非整倍性 忙性染色体畸变 产前诊断 预后 妊娠选择 子代 

分 类 号：R714.5[医药卫生—妇产科学]