胎儿超声心脏畸形与染色体微阵列分析结果相关性的初步研究

Preliminary study on the correlation between fetal ultrasonic ardiac malformation and ch romosome microarray analysis results

目的探索胎儿心脏结构畸形与染色体微阵列分析(CMA)的相关性,为产前咨询提供依据,进而优化胎儿心脏畸形的产前诊断及诊疗流程。方法回顾2019年1月至2022年5月于本院产前超声检出心脏畸形的95例胎儿及孕妇作为研究对象,所有病例均进行了侵入式产前诊断,并行CMA检测,分析比较超声与CMA结果。结果在95例胎儿心脏结构畸形中,通过CMA检测检出致病组(染色体非整倍体及致病性拷贝数变异)18例(18.9%),临床意义不明确(VOUS)组22例(23.1%),未见异常组55例(57.9%)。单一心脏畸形组48例(其中致病组3例,VOUS组10例,未见异常组35例),心脏复杂畸形组19例(其中致病组6例,VOUS组7例,未见异常组6例),心脏畸形合并心外异常组28例(其中致病组9例,VOUS组5例,未见异常组14例)。组间差异有统计学意义(χ^(2)=14.69,P<0.01)。其中致病组中心内合并心外畸形胎儿9例(50%),VOUS组和未见异常组以单一胎儿心脏畸形为主。结论系统产前超声诊断胎儿心脏畸形对发现染色体异常有一定的产前筛查价值。胎儿室间隔缺损是染色体异常的危险因素,心内膜垫缺损与21三体的发生高度相关,22q11.2微缺失综合征胎儿容易出现心脏结构畸形,产前超声诊断心脏结构畸形的胎儿应建议行CMA检测排除致病性染色体异常。

Objective To explore the correlation between fetal cardiac structural malformation and chromosome microarray analysis(CMA),and Provide basis for prenatal consultation,so as to optimize the prenatal diagnosis and treatment process of fetal cardiac malformation.Methods 95 fetuses with cardiac malformation detected by prenatal ultrasound in our hospital from January 2019 to May 2022 and pregnant women were taken as research objects.Invasive prenatal diagnosis was performed in all cases,and CMA was performed.The results of ultrasound and CMA were analyzed and compared.Results Among 95 cases with fetal cardiac str uctural malformation,there were 18 cases(18.9%)in pathogenic group(chromosome aneuploidy and pathogenic copy number variation),22 cases(23.1%)in Uncertain significance(VOUS)group,and 55 cases(57.9%)in no abnormality group by CMA.There were 48 cases with isolate cardiac malformation(including 3 cases in pathogenic group,10 cases in Vous group and 35 cases in no abnormality group)。19 cases with complex cardiac ma lformation(including cases in pathogenic group,7 cases in vous group and 6 ceases in no abnormalitygroup),and 28 cases wit h cardiac malformation combined with extracardiac abnormality(including 9 cases in pathogenicgroup,5 cases in vous group and 14 cases in no abnormality group).The difference between groups was statis tically significant(χ^(2)=14.69,P<0.01).Among them,9 fetuses(50%)in the pathogenic group were complicated with e xtracardiac malformation in the center,and isolate fetal heart malformation was the main cause in vous group and no abnormality group.Conclusion Systematic prenatal ultrasound diagnosis of fetal heart malformation has certain prenatal screening value for chromosome abnormality.Fetal ventricular septal defect is a nisk factor for chromosomal abnormalities.Endocardial cushion defect is highly correlated with trisomy 21.Fetuses with 22q11.2 microdeletion syndrome are prone to cardiac structural abnormalities.Fetuses with prenatal ultrasound diagnosis of cardiac structural abnormalities should recommend CMA detec tion to exclude pathogenic chromosomal abnormalities.