胎儿期染色体22q11.2微缺失综合征产前临床表型的分析研究

Analysis of prenatal clinical phenotype of fetal chromosome 22q11.2 microdeletion syndrome

目的探讨胎儿期产前诊断的染色体22q11.2微缺失综合征临床表型特征,探讨进行22q11.2微缺失产前诊断的必要性和意义,以指导临床实践。方法选择2017年11月至2021年6月在江西省妇幼保健院产前诊断中心因产前筛查高风险而就诊的,应用染色体微阵列技术确诊的29例22q11.2微缺失综合征病例,分析其临床表型。结果29例22q11.2微缺失综合征胎儿中,21例是因为孕中晚期超声检查异常行产前诊断确诊的,占72.4%;7例是孕中期血清学唐氏综合征筛查高风险后产前诊断确诊的,占24.1%;1例是外周血胎儿游离DNA筛查异常经产前诊断确诊,占3.5%。胎儿超声特征异常最常见的是心脏结构异常16例(16/21),NT值异常(3/21)等,其中累积心脏异常最常见的是动脉弓部异常(11/16)。在有随访资料的15例妊娠结局中,选择引产5例,胎儿发育异常2例,发育正常8例。结论22q11.2微缺失综合征以胎儿超声异常临床表型为主,其次是唐筛高风险。研究提示心脏发育异常的胎儿进行22q11.2微缺失产前诊断检测具有重要意义。

Objective To explore the clinical phenotypic characteristics of chromosome 22q11.2 microdeletion syndrome in prenatal diagnosis,and to explore the necessity and significance of prenatal diagnosis of 22q11.2 microdeletion,so as to guide clinical practice.Methods 29 cases of 22q11.2 microdeletion syndrome diagnosed by chromosome microarray in the prenatal diagnosis center of our hospital from November 2017 to June 2021 due to high risk of prenatal screening were selected to analyze their clinical phenotypes.Results Among 29 fetuses with 22q11.2 microdeletion syndrome,21 cases were diagnosed by prenatal diagnosis because of abnormal ultrasonography in the middle and third trimester of pregnancy,accounting for 72.4%;7 cases were diagnosed by prenatal diagnosis after serological Down syndrome screening in the second trimester of pregnancy,accounting for 24.1%;1 case was abnormal fetal free DNA screening in peripheral blood,which was diagnosed before delivery,accounting for 3.5%.The most common fetal ultrasound features were abnormal cardiac structure in 16 cases(16/21),abnormal NT value(3/21),etc,among them,the most common cumulative cardiac abnormalities were arterial arch abnormalities(11/16).Among the 15 pregnancy outcomes with follow-up data,5 cases of induced labor,2 cases of fetal dysplasia and 8 cases of normal development were selected.Conclusion 22q11.2 microdeletion syndrome is mainly characterized by abnormal clinical phenotype of fetal ultrasound,followed by high risk of screening.Studies suggest that prenatal diagnosis and detection of 22q11.2 microdeletion in fetuses with abnormal cardiac development is of great significance.