无创产前检测进行染色体缺失或重复检测的临床应用价值

发布时间：2018-05-11 00:12

本文选题：无创产前检测 + 染色体缺失或重复　；参考：《实用妇产科杂志》2017年08期

【摘要】：目的:探讨无创产前检测(NIPT)进行染色体缺失或重复检测的临床应用价值。方法:对传统产前筛查异常、既往有唐氏儿分娩史及高龄孕妇等3500例孕妇采集外周血,采用Illumina测序技术检测母体血浆胎儿游离DNA(cff DNA),分析胎儿性染色体及除21、13、18号染色体以外的其他常染色体信息,对NIPT阳性的孕妇进行遗传咨询,对其中自愿进行介入性产前诊断的,行染色体核型分析及染色体微阵列分析(CMA)进行验证。结果:3500例接受NIPT的病例中,检出32例常染色体异常(除外21、13、18号),其中有11例接受介入性产前诊断,染色体核型分析及CMA检测分别提示3例异常,符合率27.3%(3/11)。检出45例性染色体异常,其中有23例接受介入性产前诊断,染色体核型分析及CMA检测分别确诊12例异常,符合率52.2%(12/45)。结论:NIPT在预测胎儿性染色体异常及常染色体(除外21、13、18号)异常方面有一定的参考价值,但需要进行染色体核型分析和(或)CMA检测进行验证。
[Abstract]:Objective: to evaluate the clinical value of non-invasive prenatal test (NIPT) for chromosome deletion or repeated detection. Methods: peripheral blood samples were collected from 3500 pregnant women with abnormal prenatal screening, birth history of Down's fetus and elderly pregnant women. Illumina sequencing technique was used to detect fetal free DNA(cff DNA in maternal plasma, to analyze fetal sex chromosomes and other autosomal information except chromosome 21, 13 and 18, to carry out genetic counseling for pregnant women with positive NIPT, and to carry out interventional prenatal diagnosis voluntarily. Chromosome karyotype analysis and chromosome microarray analysis were performed. Results 32 cases of autosomal abnormalities were detected in 3 500 cases of NIPT (except 21 / 131,18%). Among them, 11 cases were diagnosed by interventional prenatal diagnosis, 3 cases were abnormal by chromosome karyotype analysis and CMA test, the coincidence rate was 27. 3% and 3 / 11% respectively. Forty-five cases of sex chromosome abnormalities were detected, of which 23 cases were diagnosed by interventional prenatal diagnosis. 12 cases were diagnosed by chromosome karyotype analysis and CMA test, respectively, and the coincidence rate was 52.2% / 45%. ConclusionTwo NIPT has some reference value in predicting fetal sex chromosomal abnormalities and autosomal abnormalities (except 21 / 13, 18), but it needs to be verified by karyotype analysis and / or CMA test.
【作者单位】：南方医科大学附属佛山市妇幼保健院;广州医科大学附属第三医院;
【基金】：广州市科技计划项目(编号:201604020078) 广东省自然科学基金(编号:2016A030313610)
【分类号】：R714.5

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