22q11.21微缺失与微重复综合征的产前临床表型分析及遗传咨询  

Prenatal phenotypic analysis and genetic counseling for 22q11.21 microdeletion and microduplication syndrome

作　　者：宋婷婷 郑娇 黎昱 李佳 徐盈 郭芬芬 杨红 Tingting Song;Jiao Zheng;Yu Li;Jia Li;Ying Xu;Fenfen Guo;Hong Yang(Department of Obstetrics and Gynecology,the First Affiliated Hospital of Air Force Medical University,Xi'an 710032,China)

机构地区：[1]空军军医大学第一附属医院妇产科,西安710032

出　　处：《中华围产医学杂志》2023年第4期286-291,共6页Chinese Journal of Perinatal Medicine

基　　金：西安市创新能力强基计划-医学研究项目(21YXYJ0106)。

摘　　要：目的探讨产前诊断22q11.21微缺失与微重复胎儿的不同临床表型、妊娠结局,为临床遗传咨询提供依据。方法回顾性分析2015年1月至2022年1月在空军军医大学第一附属医院产前诊断中心因超声检查异常、高龄、血清学筛查高风险等行介入性产前诊断,应用染色体微阵列分析(chromosome microarray analysis,CMA)技术确诊的22q11.21微缺失或微重复病例。对其临床表型及妊娠结局进行描述性分析。结果研究期间,共9141例行CMA检测的病例中,有77例(0.8%)为22q11.21微缺失或微重复胎儿。77例中,62例(80.5%)为22q11.21微缺失,包括58例典型区域缺失和4例非典型区域缺失(均包含与先天性心脏病明确相关的TBX1基因);15例(19.5%)为22q11.21微重复,包括14例典型区域重复和1例非典型区域重复。62例22q11.21微缺失胎儿中,48例(77.4%)伴有先天性心脏病,其中28例为圆锥动脉干畸形;15例22q11.21微重复胎儿中,5例伴有先天性心脏病。预产期后3~6个月进行电话随访,62例22q11.21微缺失胎儿中,52例终止妊娠,5例失访,5例出生(1例早产出生后1个月死亡,1例生后伴肛门前移及发育迟缓,3例随访未见明显异常);15例22q11.21微重复胎儿中,4例终止妊娠,2例失访,9例出生(8例随访未见明显异常,1例发育迟缓)。结论应用CMA对22q11.21微缺失与微重复胎儿进行产前诊断,并结合超声诊断综合分析其临床表现及妊娠结局,对指导妊娠、患儿出生后的治疗康复均具有重要意义,孕期需结合超声检查进行遗传咨询综合考虑、谨慎处理。Objective To analyze the prenatal clinical phenotypes and pregnancy outcomes of fetuses with 22q11.21 microdeletion and microduplication syndrome to provide a basis for clinical genetic counseling.Methods This retrospective study involved the cases diagnosed with 22q11.21 microdeletion or microduplication by chromosomal microarray analysis(CMA)due to abnormal ultrasound findings,advanced maternal age,or high-risk pregnancies indicated by serum screening in the Prenatal Diagnosis Center of the First Affiliated Hospital of Air Force Medical University from January 2015 to January 2022.Clinical phenotypes and pregnancy outcomes of the fetuses were analyzed and described.Results Among 9141 cases referred for CMA during the study period,77 cases(0.8%)were diagnosed as 22q11.21 microdeletion or microduplication,including 62(80.5%)with 22q11.21 microdeletion and 15(19.5%)with microduplication.In the 22q11.21 microdeletion cases,58 had typical deletion,and four had atypical deletions,but all fetuses carried TBX1 gene that was clearly associated with congenital heart disease.The 15 fetuses with 22q11.21 microduplication including 14 in the typical region and one in the atypical region.Forty-eight(77.4%)out of the 62 fetuses with 22q11.21 microdeletion were complicated by congenital heart defects,including 28 with conotruncal defects.Five of the 15 fetuses with 22q11.21 microduplication were complicated by congenital heart defects.The cases were followed up on telephone at three to six months after the expected date of delivery.Among the 62 cases with 22q11.21 microdeletion,52 terminated pregnancies,five were lost to follow-up,and five were delivered(one died after one month of premature delivery,one was born with anal advancement and growth retardation,and three were followed up without obvious abnormality).Among the 15 cases with 22q11.21 microduplication,four terminated pregnancies,two were lost to follow-up,and nine gave birth(eight were followed up without obvious abnormality,one grew slowly).Conclusions The applicati

关 键 词：染色体 人 22对 染色体缺失 染色体重复 产前诊断 微阵列分析 遗传咨询 

分 类 号：R714.5[医药卫生—妇产科学] R440[医药卫生—临床医学]