全基因组SNP-array联合染色体核型分析在胎儿中枢神经系统异常产前诊断中的价值  

Value of genome-wide SNP-array combined with chromosome karyotype analysis in the prenatal diagnosis of abnormal fetal central nervous system

作　　者：张颖 金艳文 温艳 李伟伟 ZHANG Ying;JIN Yanwen;WEN Yan(Department of Clinical Laboratory,Maternal and Child Health Care in Chengde,Chengde,Hebei 067000,China;Department of Obstetrics,Maternal and Child Health Care in Chengde,Chengde,Hebei 067000,China;Department of Genetic Eugenics,Qinhuangdao Maternal and Child Health Hospital of Hebei Province,Qinhuangdao,Hebei 066000,China)

机构地区：[1]河北省承德市妇幼保健院检验科,河北承德067000 [2]河北省承德市妇幼保健院产科,河北承德067000 [3]河北省秦皇岛市妇幼保健院遗传优生科,河北秦皇岛066000

出　　处：《国际检验医学杂志》2022年第19期2414-2420,共7页International Journal of Laboratory Medicine

基　　金：无创DNA检测在产前诊断中的应用价值(201904A005)。

摘　　要：目的 探讨全基因组单核苷酸多态性微阵列芯片(SNP-array)联合染色体核型分析在胎儿中枢神经系统(CNS)异常产前诊断中的价值。方法 选择2018-2020年到河北省承德市妇幼保健院和秦皇岛市妇幼保健院就诊并进行胎儿CNS异常产前诊断的患者275例作为研究对象,其中单纯性CNS异常组163例,CNS异常合并其他异常组112例。对275例CNS异常胎儿的绒毛、羊水、脐带血标本进行培养、收集、制备、G显带,进行染色体核型分析和SNP-array检测。结果 275例CNS异常胎儿中,22例胎儿有致病性染色体异常,异常率为8.00%,单纯性CNS异常组的染色体异常率为4.91%(8/163),CNS异常合并其他异常组的染色体异常率为12.50%(14/112)。采用SNP-array检测出23例拷贝数变异(CNV)异常胎儿,检出率为8.36%(23/275)。CNS异常合并其他异常组的致病性CNVs检出率(7.14%)高于单纯性CNS异常组(4.29%),但差异无统计学意义(P>0.05)。单纯性CNS异常组胎儿中染色体异常和致病性CNVs的检出率为9.20%(15/163)。结论 全基因组SNP-array联合染色体核型分析应用于CNS异常胎儿的产前诊断,可实现更好的产前评估和遗传咨询,并影响胎儿结局。Objective To investigate the value of whole genome single nucleotide polymorphism array(SNP-array)combined with chromosome karyotype analysis in prenatal diagnosis of fetus with abnormal central nervous system(CNS).Methods From January 2018 to 2020,275 pregnants who went to Maternal and Child Health Care in Chengde and Qinhuangdao Maternal and Child Health Hospital of Hebei Province for prenatal diagnosis of fetal CNS were selected as the research object, there were 163 cases in the CNS abnormalities alone group, and 112 cases in the CNS abnormalities combined with other abnormalities group.The villus, amniotic fluid and umbilical cord blood samples of 275 fetuses with CNS abnormalities were cultured, collected, prepared, G-banding and karyotype analysis, and SNP-array detection were conducted.Results Among 275 fetuses with abnormal CNS,22 fetuses had pathogenic chromosomal abnormalities, the chromosomal abnormality rate was 8.00%(22/275),the chromosomal abnormality rate of CNS abnormalities alone group was 4.91%(8/163),and the chromosomal abnormality rate of CNS abnormalities combined with other abnormalities group was 12.50%(14/112).23 fetuses with abnormal copy number variation(CNVs) were detected by SNP-array, and the detection rate was 8.36%(23/275).The incidence of pathogenic CNVs in CNS abnormalities combined with other abnormalities group(7.14%) was higher than that in CNS abnormalities alone group(4.29%),but the difference was not statistically significant(P>0.05).The incidence of chromosomal abnormalities and pathogenic CNVs in CNS abnormalities alone group was 9.20%(15/163).Conclusion Genome-wide SNP-array combined with chromosome karyotype analysis could be used in prenatal diagnosis of fetus with CNS abnormality, which can achieve better prenatal evaluation and genetic counseling, and affect the fetal outcome.

关 键 词：单核苷酸多态性微阵列芯片 染色体核型分析 中枢神经系统异常 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]