摘要
目的:探讨22q11.2微缺失综合征(22q11.2DS)的产前及产后表型,提高临床对于该病的认识。方法:收集2014年1月至2025年8月在4家产前诊断机构确诊为22q11.2DS的86例胎儿的信息,分析其产前影像学表现、妊娠结局及出生后的情况。结果:在86例胎儿中,收集到完整的超声信息65例,其中心血管系统异常42例,胸腺缺如或发育不全7例,泌尿系统异常6例,颈项透明层增厚7例,蝴蝶椎、足内翻各1例;脐膨出、膈疝各1例;唇腭裂2例;超声软指标异常13例。9例胎儿的父母选择了继续妊娠,其中6例超声未见明显异常,且出生后未出现相关表型,其余3例均有超声异常,出生后表现为发育迟缓、免疫力低下、心脏缺陷等。结论:22q11.2DS胎儿在出生前后可出现多种系统超声异常。除心血管系统异常外,还可能出现胸腺缺失或发育不全、NT增厚及泌尿系统异常等。对于NT增厚及胸腺异常的胎儿应高度重视,建议将胎儿胸腺评估纳入产检影像学评估指标中。超声检查未见异常的22q11.2DS胎儿出生后出现严重表型的风险较低,但无法排除超声无法检测的潜在风险(如隐型腭裂、精神疾病等)。受限于样本量与随访时长,上述结论有待大规模前瞻性研究的进一步验证。
Objective To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome(22q11.2DS)and enhance clinical understanding of this condition.MethodsData were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025.Prenatal imaging findings,pregnancy outcomes,and postnatal conditions were analyzed.ResultsAmong the 86 fetuses,complete ultrasound data were available for 65 cases.Cardiovascular abnormalities were observed in 42 cases,thymic hypoplasia or aplasia in 7 cases,urinary system anomalies in 6 cases,nuchal translucency(NT)thickening in 7 cases,butterfly vertebrae,clubfoot,omphalocele and diaphragmatic hernia in 1 case each,cleft lip and palate in 2 cases,and ultrasound soft markers in 13 cases.The parents of 9 fetuses opted to continue with the pregnancy.Among these,6 showed no significant ultrasound abnormalities and no related phenotypes postnatally,while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay,immunodeficiency,and cardiac defects.ConclusionFetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth.In addition to cardiovascular anomalies,they may also present with thymic hypoplasia or aplasia,thickened NT,and urinary abnormalities.Fetuses with thickened NT or thymic anomalies should be closely monitored,and thymic assessment should be included in routine prenatal imaging evaluations.For fetuses with 22q11.2DS who show no ultrasound abnormalities,the risk of developing severe phenotypes after birth is relatively low,but occult palate clefts and psychiatric disorders cannot be ruled out.Due to limitations in sample size and follow-up duration,above conclusions require further validation through large-scale prospective studies.
作者
刘晓飞
王亚男
严提珍
张胜利
解燕川
娄季武
姜宏卫
Liu Xiaofei;Wang Yanan;Yan Tizhen;Zhang Shengli;Xie Yanchuan;Lou Jiwu;Jiang Hongwei(The First Affiliated Hospital of Henan University of Science and Technology,Luoyang,Henan 471000,China;Department of Medical Genetics and Prenatal Diagnosis,Luoyang Maternal and Child Health Care Hospital,Luoyang,Henan 471000,China;Prenatal Diagnosis Center,Dongguan Maternal and Child Health Care Hospital,Dongguan,Guangdong 523107,China;Department of Medical Genetics,Weifang Maternal and Child Health Care Hospital,Weifang,Shandong 261000,China)
出处
《中华医学遗传学杂志》
2026年第1期31-35,共5页
Chinese Journal of Medical Genetics
基金
河南省重点科技研发项目(225200810054)。
