染色体微阵列分析技术产前诊断胎儿先天性肺囊性腺瘤样畸形的应用价值

Prenatal diagnosis of fetuses with congenital cystic adenomatoid malformation of the lung

目的探讨染色体微阵列分析(CMA)技术产前诊断胎儿先天性肺囊性腺瘤样畸形(CCAM)的应用价值。方法选取2018年3月至2019年12月在温州医科大学附属第二医院就诊的产前超声诊断胎儿为CCAM的孕妇23例,根据胎儿是否合并其他结构异常,分为单纯性CCAM 19例和非单纯性CCAM 4例。采用羊膜腔穿刺术或脐静脉穿刺术取得胎儿标本进行CMA检测,应用配套的CHAS软件及生物信息学方法分析检测结果,根据检测的拷贝数变异(CNV)性质不同分为良性CNV、致病性CNV和临床意义不明确的CNV,并对致病性CNV及临床意义不明确的CNV胎儿的父母外周血行CMA验证,协助判断CNV的性质。结果3例胎儿检出致病性CNV,检出率为13.0%;单纯性CCAM胎儿与非单纯性CCAM胎儿的致病性CNV检出率分别为10.5%(2/19)和25.0%(1/4)。2例致病性CNV引产。20例CCAM胎儿出生后随访,7例(35.0%)自发消退;5例(25.0%)接受手术治疗,术后恢复良好;8例(40.0%)分娩后CT检查仍有CCAM,仍在随访中。结论CMA技术能发现部分致病性CNV,有助于CCAM病变的产前咨询及孕期管理,避免过度引产。

Objective To explore the value of chromosomal microarray analysis(CMA)in prenatal diagnosis of fetal congenital cystic adenomatoid malformation(CCAM)of the lung.Methods Twenty-three fetuses with CCAM of the lung diagnosed by prenatal ultrasound in the Second Affiliated Hospital of Wenzhou Medical University from March 2018 to December 2019 were included in the study,including 19 cases of simple CCAM and 4 cases of non-simple CCAM according to whether the fetus was complicated with other structural abnormalities.Fetal cell specimens were obtained by amniocentesis or percutaneous umbilical blood sampling for CMA detection,and the results were analyzed by CHAS software and bioinformatics.According to the nature of copy number variation(CNV)detected,the CNV were divided into benign CNV,pathogenic CNV and variants of uncertain significance(VOUS).CMA verification was performed on the peripheral blood of parents of pathogenic CNV and VOUS fetus to help judge the CNV.Results The detection rate of pathogenic CNV was 13.0%.The detection rates of pathogenic CNV in simple CCAM fetus and non-simple CCAM fetus were 10.5%(2/19)and 25.0%(1/4),respectively.Two cases had induced labor pathogenic CNV cases.Twenty cases of CCAM fetus were followed up:7 cases(35.0%)had spontaneous regression,5 cases(25.0%)received surgical treatment and recovered well after operation,and 8 cases(40.0%)still had CCAM after delivery.Conclusion CMA technique can find pathogenic CNV,which may help prenatal counseling and pregnancy management of CCAM disease to avoid excessive induced labor.