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胎儿游离DNA高通量测序在产前诊断中的应用价值

Application Value of Fetal Cell-free DNA High-throughput Sequencing in Prenatal Diagnosis
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摘要 目的探讨胎儿游离DNA高通量测序在产前诊断中的应用价值。方法抽取2020年1月-2021年6月该院施行无创DNA检测孕妇共21705例为研究对象,评估其检测结果。结果21705例孕妇中,DNA筛查异常共279例,占比1.29%;介入产前诊断共221例,85例出现染色体核型异常。结论在产前诊断中,胎儿游离DNA高通道测序技术的运用,可有效筛查是否为染色体异常,杜绝不必要介入性产前诊断。 Objective To investigate the application value of fetal cell-free DNA high-throughput sequencing in pre⁃natal diagnosis.Methods A total of 21705 pregnant women undergoing non-invasive DNA testing in the hospital from January 2020 to June 2021 were selected as study subjects,and the test results were evaluated.Results Among the 21705 pregnant women,279 cases were abnormal in DNA screening,accounting for 1.29%.A total of 221 cases underwent interventional prenatal diagnosis,and 85 cases had abnormal karyotype.Conclusion In prenatal diagno⁃sis,the application of fetal cell-free DNA high-channel sequencing technology can effectively screen for chromo⁃somal abnormalities,and eliminate unnecessary interventional prenatal diagnosis.
作者 韩咏梅 HAN Yongmei(Zibo Maternal and Child Health Hospital,Zibo,Shandong Province,255000 China)
出处 《系统医学》 2022年第12期171-173,177,共4页 Systems Medicine
关键词 胎儿游离DNA 产前诊断 染色体非整数倍体 价值 Fetal cell-free DNA Prenatal diagnosis Chromosomal aneuploidy Value
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