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染色体微阵列技术在NIPS性染色体拷贝数变异中的应用 被引量:2

The Application of Chromosome Microarray in the Validation of NIPT Sex Chromosome Copy Number Variation
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摘要 目的探讨应用染色体微阵列技术对NIPS性染色体拷贝数变异阳性结果验证中的价值。方法2019年1月至2020年12月对我院无创性染色体检测阳性的孕妇,进行遗传咨询、签署知情同意书及胎儿核型分析和染色体微阵列技术检测。结果接受NIPS的病例共检出性染色体异常170例,总体核型与无创性染色体异常的符合率为40.59%,染色体微阵列技术结果与无创性染色体异常符合率为38.23%,染色体微阵列技术与核型分析技术联合使用与无创性染色体异常的符合率为44.12%。结论染色体微阵列技术可提高NIPS性染色体拷贝数变异异常的检出率。 Objective To explore the value of chromosome microarray technology in the validation of NIPT sex chromosome copy number variation(CNV)positive results.Methods Pregnant women with non-invasive chromosome positive in our hospital from January,2019 to December,2020 were included in the study cohort.They received genetic counseling and signed informed consent for fetal karyotype analysis and chromosomal microarray detection.Results A total of 170 cases of sexual chromosomal abnormalities were examined in NIPS cases.The coincidence rate between karyotype and non-invasive chromosomal abnormalities was 40.59%,the coincidence rate between the results of chromosome microarray technology and non-invasive chromosomal abnormalities was 38.23%,and the coincidence rate between the results of chromosome microarray technology and karyotype analysis technology and non-invasive chromosomal abnormalities was 44.12%.Conclusion Our results suggest that chromosome microarray technology can improve the detection rate of NIPS sex chromosome copy number abnormality.
作者 张金花 余珍 王丽霞 李妤 ZHANG Jinhua;YU Zhen;WANG Lixia;LI Yu(Prenatal Diagnosis Center,Urumqi Maternal and Child Health Hospital,Urumchi 833000,China)
出处 《标记免疫分析与临床》 CAS 2021年第8期1278-1282,共5页 Labeled Immunoassays and Clinical Medicine
基金 乌鲁木齐市卫生健康委课题(编号:201925)。
关键词 单核苷酸多态性微阵列 核型分析 拷贝数变异 Single nucleotide polymorphism array Chromosome analysis Copy number variation
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