NIPT、CMA、高分辨染色体核型分析技术在珠海市产前诊断中的联合应用  

Combined application of NIPT,CMA and high resolution of karyotypes analysis in prenatal diagnosis in Zhuhai

作　　者：赵理平[1] 罗华玉[1] 罗桂香[1] 肖鸽飞[1] 胡利清[1] Zhao Liping;Luo Huayu;Luo Guixiang;Xiao Gefei;Hu Liqing(Department of Laboratory Medicine/Institute of Medical Genetics,Zhuhai Maternal and Child Health Care Hospital,Zhuhai 519000,China)

机构地区：[1]珠海市妇幼保健院检验科/医学遗传研究所,珠海519000

出　　处：《国际遗传学杂志》2022年第1期7-13,共7页International Journal of Genetics

基　　金：珠海市科技计划项目(20191208E030013)。

摘　　要：目的评估无创产前检测(non-invasive prenatal testing,NIPT)、染色体微阵列分析(chromosomal microarray analysis,CMA)、高分辨染色体核型分析技术在珠海市产前诊断中联合应用的临床价值。方法对26882例符合NIPT筛查指征孕妇进行NIPT检测,对其中205例NIPT高风险孕妇进行羊水高分辨染色体核型分析及CMA检测。结果205例NIPT高风险确诊124例,总阳性预测值60.5%;高分辨核型分析检出传统技术易漏检的3~5 Mb左右结构异常5例;CMA检出正常核型结果中致病或可能致病性微缺失/微重复3例、单亲二体(uniparental disomy,UPD)2例,明确不确定染色体结构1例,因方法学局限性未检测出核型分析中4例倒位、5例易位、7例低比例嵌合体。结论高分辨染色体核型制备技术较传统技术能有效提高染色体病的检出率。NIPT、CMA、高分辨染色体核型分析3种技术具有互补性,在产前诊断中联合应用,可以有效提高胎儿染色体病检出率,减少出生缺陷。Objective To evaluate the clinical value of non-invasive prenatal testing(NIPT),chromosomal microarray analysis(CMA)and high resolution of karyotypes analysis in prenatal diagnosis in Zhuhai.Methods Amniotic fluid karyotype analysis and CMA detection were performed in 205 pregnant women with high risk of NIPT.Results Among 205 high-risk NIPT patients,124 were diagnosed as abnormal,with a total positive predictive value of 60.5%.5 cases with about 3~5 MB structural abnormalities were detected by high resolution of karyotype analysis.3 cases of pathogenic or possibly pathogenic microdeletion/microduplication with normal karyotypes were detected by CMA,2 cases of uniparental disomy(UPD),and one case with definite uncertain chromosome structure.Due to methodological limitations,4 cases of inversions,5 cases of translocations,and 7 cases of low-proportion chimeras were detected by the karyotype analysis which were not detected by CMA.Conclusion NIPT,CMA and high resolution of karyotype analysis are complementary,and the combined application of NIPT,CMA and high resolution of karyotype analysis in prenatal diagnosis can effectively improve the detection rate of fetal chromosomal diseases and reduce birth defects.

关 键 词：无创产前检测 染色体微阵列分析 高分辨染色体核型分析 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]