SNP-array技术在产前诊断中的应用

Application of SNP-array in prenatal diagnosis

目的探讨芯片SNP-array技术与传统细胞核型分析技术在产前诊断中的应用价值。方法选择2016年11月至2018年3月于泰安市中心医院就诊的孕妇83例,就诊原因为胎儿颈项透明层异常、胎儿超声结构异常、胎儿发育迟缓及无创DNA筛查提示高风险等,通过抽取其胎儿羊水或脐带血,采用SNP-array技术与传统细胞核型分析对其进行产前诊断。结果83例胎儿中,芯片、核型染色体异常的检出率分别是26.51%(22/83)、22.89%(19/83);其中超声发现胎儿结构异常25例,芯片SNP-array技术发现染色体异常11例,核型分析发现染色体异常8例。传统核型发现1例2号染色体低比例嵌合体(无创DNA提示21-三体高风险),芯片未发现。结论与传统核型分析比较,芯片技术对胎儿染色体异常的检出率有明显的优势及价值。但传统的核型分析仍是一项重要的、不可忽略的诊断技术。

Objective To investigate the clinical value of single nucleotide polymorphism array(SNP-array)and chromosomal microarray analysis in the prenatal diagnosis.Methods A total of 83 pregnant women in Taian Central Hospital from November 2016 to March 2018 were selected,of which the causes of consultation were abnormal hyaline layer of fetal neck,abnormal ultrasonographic structure of fetus,fetal growth retardation and non-invasive DNA screen suggesting high risk.Fetal amniotic fluid or umbilical cord blood was extracted and determined by SNP-array technique and chromosomal microarray analysis for prenatal diagnosis.Results Among 83 fetuses,the detection rate by SNP-array technology was 26.51%(22/83),and it was 22.89%(19/83)by chromosomal microarray analysis.Among them,25 cases of fetal structural abnormalities were detected by ultrasonography,11 cases of chromosomal abnormalities were determined by SNP-array technology,and 8 chromosomal abnormalities were checked out by chromosomal microarray analysis.Traditional chromosomal microarray analysis technology revealed a low-proportion chimerism of chromosome 2(noninvasive DNA suggesting a high risk of trisomy 21),but SNP-array technology did not check out the abnormality.Conclusions Compared with traditional chromosomal microarray analysis,SNP-array technology has obvious advantages and value in detecting fetal chromosome abnormalities.However,traditional chromosomal microarray analysis is still an important diagnostic technology which can’t be ignored.