单核苷酸多态性微阵列技术在高龄孕妇产前诊断中的应用  

Application of single nucleotide polymorphic microarray technique in prenatal diagnosis of advanced maternal age

作　　者：苏景玉 欧阳鲁平 欧珊[1] 刘天盛[1] 李薇 费冬梅[1] 黄红倩[1] 耿国兴[1] 罗静思[1] SU Jingyu;OUYANG Luping;OU Shan;LIU Tiansheng;LI Wei;FEI Dongmei;HUANG Hongqian;GENG Guoxing;LUO Jingsi(Laboratory of Genetic and Metabolism Center,Maternal&Child Health Hospital of Guangxi Zhuang Autonomous Region,Guangxi Institute of Birth Defects Prevention and Control,Nanning,Guangxi 530002,China)

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西壮族自治区出生缺陷预防控制研究所,广西南宁530002

出　　处：《中华全科医学》2023年第5期805-808,共4页Chinese Journal of General Practice

基　　金：广西自然科学基金项目(2020JJB140047);广西卫健委自筹课题(Z20210440,Z20210066,Z20200699)。

摘　　要：目的探讨染色体核型与单核苷酸多态性微阵列技术(SNP array)在高龄妊娠孕妇胎儿的产前诊断中联合应用的临床价值及染色体变异位点与相应临床表型的关联性。方法统计2016年1月—2020年12月来广西壮族自治区妇幼保健院遗传门诊就诊的2642例因高龄妊娠(≥35岁)而行羊膜腔穿刺抽取羊水的孕妇,采用常规的传代细胞培养,行染色体核型分析,G显带;同时并行SNP array技术检测染色体拷贝数变异(copy number variations,CNVs)。结果共2642例高龄孕妇羊水样本进行核型分析,检出44例非整倍体染色体异常,其中21-三体综合征最多(65.9%,29/44),其次为18-三体综合征(9.1%,4/44)、13-三体综合征(4.5%,2/44)、性染色体非整倍体嵌合(20.5%,9/44)。SNP array技术还检出20例染色体微缺失或微重复异常,以及104例临床意义未明病例。检测率方面比较,SNP array检测明显高于核型分析技术(P<0.05)。核型分析在年龄段中的比较:35~37岁年龄段异常检出率与38~40岁年龄段;以及38~40岁年龄段与41~43岁年龄段差异均无统计学意义(均P>0.05),41~43岁年龄段异常检出率与≥44岁年龄段差异有统计学意义(P<0.05)。SNP array技术在高龄妊娠这4个年龄段检出率差异均无统计学意义(P>0.05)。结论高龄妊娠与胎儿染色体异常相关,以染色体非整倍体为主,但也存在CNVs、易位等染色体异常。作为高龄妊娠的胎儿,同时进行染色体核型分析和SNP array检测,可以为高龄妊娠胎儿的遗传咨询和预后评估提供更为精准的信息和依据。Objective To investigate the clinical value of the combination of chromosome karyotype and single nucleodide polymorphic microarray(SNP array)in the antenatal diagnosis of fetuses with advanced pregnancy and the correlation between chromosome loci and corresponding clinical phenotypes.Methods From January 2016 to December 2020,2642 pregnant women who underwent amniocentesis to extract amniotic fluid due to advanced pregnancy(≥35 years old)were enrolled in the genetic outpatient clinic of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region.Conventional cell culture was used for chromosome karyotype analysis and G-banding.At the same time,copy number variations(CNVs)were detected by parallel SNP array.Results Karyotype analysis of 2642 amniotic fluid samples from advanced pregnant women revealed 44 aneuploidy chromosome abnormalities,among which trisomy 21-syndrome was the most common(65.9%,29/44),followed by trisomy 18-syndrome(9.1%,4/44),trisomy 13-syndrome(4.5%,2/44),and sex chromosome aneuploidy chimerism(20.5%,9/44).The SNP array also detected 20 cases of chromosomal microdeletion or microduplication abnormalities and 104 cases of unknown clinical significance.The detection rate of SNP array was significantly higher than that of karyotype analysis(P<0.05).Comparison of karyotype analysis in age groups:the difference between the karyotype analysis in the age groups was not statistically significant(P>0.05)between the 35-37 years old and 38-40 years old age group;and between the 38-40 years old and 41-43 years old age group(P>0.05),while the difference between 41-43 years old and≥44 years old age group was statistically significant(P<0.05).There was no significant difference in SNP array detection rates in the four ages of advanced pregnancy(P>0.05).Conclusion The fetus of advanced maternal age is associated with chromosomal abnormalities,mainly chromosomal aneuploidy,but also CNVs,translocation and other chromosomal abnormalities.Simultaneous chromosome karyotype analysis and SNP array de

关 键 词：高龄孕妇 单核苷酸多态性微阵列芯片 染色体核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学] R446[医药卫生—临床医学]