高通量无创DNA产前检测技术对胎儿染色体疾病的诊断价值  

Diagnostic value of high-throughput non-invasive prenatal DNA testing technology for fetal chromosomal diseases

作　　者：莫伟英[1] 张鹏[1] 李友琼[1] 莫耀禧[1] 张红燕 赵仁峰[2] MO Wei-ying;ZHANG Peng;LI You-qiong;MO Yao-xi;ZHANG Hong-yan;ZHAO Ren-feng(Reproductive Technology Center;Department of Gynecology,the People's Hospital of Guangxi Zhuang Autonomous Region,Nanning 530022)

机构地区：[1]广西壮族自治区人民医院生殖医学与遗传中心,南宁市530022 [2]广西壮族自治区人民医院妇科,南宁市530022

出　　处：《广西医学》2018年第21期2562-2566,共5页Guangxi Medical Journal

基　　金：广西医药卫生科研课题(Z20170308)

摘　　要：目的探讨高通量无创DNA产前检测(NIPT)技术在胎儿染色体疾病中的应用价值。方法孕12～26+6周的孕妇3 477例,抽取其外周血行NIPT检查,对NIPT检出染色体非整倍体高风险孕妇行羊水细胞核型分析,对比NIPT检测结果与羊水细胞核型分析结果的差异。结果 (1) 3 477例孕妇,NIPT检出染色体非整倍体高风险34例(0. 98%),其中21-三体高风险10例,18-三体高风险2例,13号染色体高风险2例,性染色体异常20例,不同年龄段孕妇染色体异常阳性检出率比较,差异有统计学意义(P <0. 05);> 40岁组的异常染色体阳性检出率高于35～40岁、<35岁组(P <0. 05)。(2) 34例高风险孕妇中,有31例行羊水穿刺细胞核型分析检查,结果确诊胎儿染色体异常20例,NIPT诊断假阳性11例。(3) NIPT检测21-三体、18-三体、47,XXX/XXY和47,XYY类型的胎儿染色体非整倍体异常的灵敏度均为100%,特异度均大于99%。结论 NIPT检测对21-三体(除嵌合体)、18-三体以及性染色体三体型(47,XXX/XXY/XYY)有较高的灵敏度和特异度,但对性染色体(45,XO)异常检测的准确性仍有待从技术上进一步提高,NIPT结果异常的孕妇仍需羊水穿刺行核型分析确诊。Objective To investigate the value of high-throughput non-invasive prenatal DNA testing(NIPT)technology applied to fetal chromosomal diseases.Methods A total of3477pregnant women with gestational age of12to26+6weeks were enrolled.The peripheral blood of the subjects were collected to perform NIPT.Karyotype analysis of amniotic fluid puncture was conducted in the pregnant women diagnosed as high-risk chromosomal aneuploidy by NIPT.The results of NIPT were compared with the results of karyotype analysis of amniotic fluid puncture.Results(1)Among the3477pregnant women,34cases(0.98%)were identified as high-risk chromosomal aneuploidy by NIPT,including10cases with high risk of21-trisomy,2cases with high risk of18-trisomy,2cases with high risk of chromosome13and20cases with sex chromosome abnormality.There was statistically significant difference in the positive detection rate of chromosome abnormality among the pregnant women of different age groups(P<0.05);the positive detection rate of chromosome abnormality in the group aged40years was higher than that in the group aged35to40years or35years(P<0.05).(2)Among the34pregnant women with high risk,31cases received amniotic fluid puncture for karyotype analysis,including20cases diagnosed as fetal chromosome abnormality and11cases diagnosed as false negative by NIPT.(3)The sensitivities of NIPT for detecting fetal chromosomal aneuploidy anomaly of21-trisomy,18-trisomy,47,XXX/XXY and47,XYY were100%,and the specificities were over99%.Conclusion NIPT has higher sensitivities and specificities for detecting21-trisomy(excluding mosaic),18-trisomy and sex chromosomes abnormalities(47,XXX/XXY/XYY),but the accuracy for detecting sex chromosome(45,XO)abnormality still needs to be improved further in the technical aspect.The pregnant women with abnormal results of NIPT still need karyotype analysis of amniotic fluid puncture for diagnosing the diseases.

关 键 词：无创DNA产前检测 高通量测序 产前诊断 

分 类 号：R714[医药卫生—妇产科学]