31例扩展性无创产前检测提示22q11.2微缺失高风险胎儿的临床指征与产前诊断  

The clinical manifestations and prenatal diagnosis of 31 cases fetal with high-risk 22q11.2 deletion syndrome by NIPT-plus

作　　者：代鹏[1] 侯雅勤[1] 赵干业 胡爽 刘宁[1] 孔祥东[1] DAI Peng;HOU Yaqin;ZHAO Ganye;HU Shuang;LIU Ning;KONG Xiangdong(The Genetics and Prenatal Diagnosis Center,The Department of Obstetrics and Gynecology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]郑州大学第一附属医院妇产科、遗传与产前诊断中心,河南郑州450052

出　　处：《中国优生与遗传杂志》2021年第9期1315-1319,共5页Chinese Journal of Birth Health & Heredity

基　　金：河南省自然科学基金青年项目(202300410387);河南省医学科技攻关联合共建项目(2018020036)。

摘　　要：目的探讨扩展性无创产前检测(NIPT-plus)在22q11.2微缺失的临床应用价值。方法回顾性分析2018年9月至2020年9月在郑州大学第一附属医院遗传与产前诊断中心利用NIPT-plus提示22q11.2缺失综合征高风险孕妇的临床指征与产前诊断结果。结果 NIPT-plus提示31例孕妇为22q11.2缺失综合征高风险,其中28例孕妇进行产前诊断,确诊6例,阳性预测值(PPVs)为21.4%(6/28)。临床指征分析显示,28例孕妇中,12例孕妇表现为超声异常,5例确诊为22q11.2缺失综合征患儿,PPVs为41.7%(5/12)。结论超声异常孕妇的NIPT-plus提示22q11.2缺失综合征高风险的PPVs高于其他临床指征,提示NIPT-plus可用于22q11.2缺失综合征导致超声异常孕妇的产前筛查。Objective To explore the clinical application value of n1on-invasive prenatal testing plus(NIPT-plus) in 22q11.2 deletion syndrome. Methods Retrospective analysis of the clinical manifestations and prenatal diagnosis results of pregnant women with high-risk 22q11.2 deletion syndrome performed by NIPT-plus at the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University from September 2018 to September 2020. Results 31 pregnant women were high-risk 22q11.2 deletion syndrome by NIPT-plus. 28 pregnant women received prenatal diagnosis, and 6 cases were confirmed, and the positive predictive values(PPVs) was 21.4%(6/28). According to the clinical manifestations, 12 pregnant women showed abnormal ultrasound and 5 cases were diagnosed with 22q11.2 deletion syndrome, PPVs was 41.7%(5/12). Conclusion The PPVs of high-risk 22q11.2 deletion syndrome of pregnant women with abnormal ultrasound is higher than that of other clinical manifestations, indicating that NIPT-plus is available for prenatal screening of pregnant women with abnormal ultrasound caused by 22q11.2 deletion syndrome.

关 键 词：22Q11.2微缺失 无创产前检查 拷贝数变异测序 临床表现 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]