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

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。

Clinical Value of Non-Invasive Prenatal Test for Chromosomal Microdeletion/Microduplication

Objective:To determine the clinical value of non-invasive prenatal test(NIPT) for the diagnosis of chromosomal deletion/duplication.Methods:A total of 3500 maternal plasma samples were collected(nd cations:traditional prenatal screening abnormalities,delivery history of Dowm's children,older women,lllumina sequencing was applied to analyze the sequence copy numbers of fetal sex chromosome and autosomes excluding chromosome 21,18,13.The positive cases of NIPT were advised to accept genetic counseling.The patients who selected invasive prenatal diagnostic procedures voluntarily accepted fetal chromosomal karyotype analysis and chromosomal microarray analysis.Results:Among the 3500 pregnant women who accepted NIPT,32 cases revealed autosomal abnormalities(excluding chromosome 21,18,13),11 of 32 cases selected invasive prenatal diagnostic procedures.3 of 11 (27.3％) cases were validated by karyotype and CMA.In 45 of 3500 pregnant women NIPT revealed sex chromosomal deletion/duplication,23 of 45 cases selected invasive prenatal diagnostic procedures.12 of 23(52.2％) cases were validated by karyotype and CMA.Conclusions:NIPT has reference value in predicting fetal sex chromosomal and autosomal abnormalities (excluding chromosome 21,18,13),but the NIPT result should be confirmed by fetal chromosomal karyotype analysis and chromosomal microarray analysis.