回顾性分析单核苷酸多态性微阵列分析技术在胎儿先天性心脏病诊断中的应用价值

Retrospective analysis of single nucleotide polymorphism microarray analysis technique in the diagnosis of fetal congenital heart disease

目的回顾性分析单核苷酸多态性微阵列(SNP array)分析技术在胎儿先天性心脏病(CHD)诊断中的应用价值。方法选取2017年1月至2021年12月因超声心动图提示胎儿CHD就诊于该院遗传咨询门诊的妊娠18~25周孕妇140例为研究对象,入选孕妇均进行染色体核型分析及SNP array分析。结果超声心动图显示,140例CHD胎儿中孤立性心脏畸形、多发性心脏畸形、合并心外畸形分别有66例、34例和40例。染色体核型分析检出染色体异常9例(6.43%),SNP array分析检出染色体异常20例(14.29%);两种检测技术对CHD中微缺失和微重复的总检出率差异有统计学意义(P<0.05)。SNP array分析在未合并心外畸形胎儿中检出染色体异常占8.00%(8/100),在合并心外畸形胎儿中检出染色体异常占30.00%(12/40),差异有统计学意义(P<0.05)。SNP array分析共检出14例染色体拷贝数变异(CNV),其中致病性CNV 3例,临床意义不明确CNV 11例。结论相较于传统染色体核型分析,SNP array分析能提高染色体异常的检出率,胎儿CHD采用染色体核型分析联合SNP array分析更有助于临床医生分析胎儿的产前遗传学病因。

Objective To retrospectively analyze the application value of single nucleotide polymorphism microarray(SNP array)analysis technique in the diagnosis of fetal congenital heart disease(CHD).Methods From January 2017 to December 2021,a total of 140 pregnant women at 18-25 weeks of gestation who were admitted to the genetic counseling clinic of the hospital because of fetal CHD indicated by echocardiography were selected as the research objects.Chromosomal karyotype analysis and SNP array analysis were performed on all pregnant women.Results Echocardiography showed that there were 66 cases of isolated heart malformation,34 cases of multiple heart malformation,and 40 cases of combined extracardiac malformation in 140 CHD fetuses.Chromosomal karyotype analysis detected 9 cases(6.43%)of chromosomal abnormalities,and SNP array analysis detected 20 cases(14.29%)of chromosomal abnormalities.There were significant differences in the total detection rate of microdeletions and microduplications between the two detection techniques in CHD(P<0.05).SNP array analysis showed that chromosomal abnormalities accounted for 8.00%(8/100)in fetuses without extracardiac malformations,and 30.00%(12/40)in fetuses with extracardiac malformations,and the difference wa s statistically significant(P<0.05).A total of 14 cases of chromosomal copy number variation(CNV)were detected by SNP array analysis,including 3 cases of pathogenic CNV and 11 cases of unclear clinical significance CNV.Conclusion Compared with traditional chromosomal karyotype analysis,SNP array analysis can improve the detection rate of chromosomal abnormalities.Chromosomal karyotype analysis combined with SNP array analysis is more helpful for clinicians to analyze the prenatal genetic causes of fetal CHD.