产前检测胎儿染色体非整倍体临床应用分析  

Clinical application of non-invasive prenatal testing for detecting chromosome aneuploidy

作　　者：文萍[1] 王挺[1] 李琼[1] 李海波[1] 李红[1] 

机构地区：[1]南京医科大学附属苏州医院苏州市立医院生殖与遗传中心,江苏省215002

出　　处：《江苏医药》2014年第10期1167-1170,共4页Jiangsu Medical Journal

摘　　要：目的评价基于第二代高通量测序技术(HTS)的无创产前检测(NIPT)胎儿染色体非整倍体的临床应用价值。方法收集要求NIPT的单胎孕妇2932例,抽取外周血,富集血清中的胎儿游离DNA,经HTS二次测序检测21、18、13号染色体非整倍体及性染色体异常。对检测提示高危的孕妇,根据孕周行羊膜腔或者脐静脉穿刺,行胎儿核型分析,随访妊娠结局。最后将NIPT与核型分析、妊娠结局综合进行统计学分析。结果 (1)2932例孕妇中,共检出25例21三体高危,6例18三体高危,2例13三体高危,15例提示性染色体异常。(2)随访妊娠结局2716例,结果显示NIPT检测阴性中无21三体、18三体、13三体综合征。根据目前随访资料,NIPT检测T21/T18/T13的综合阳性率1.13%,灵敏度100%,特异度99.85%,假阳性率0.15%,阳性预测值87.88%,阴性预测值100%;NIPT检测T21灵敏度100%,特异度99.9%,假阳性率0.1%,阳性预测值92%,阴性预测值100%;NIPT检测T18灵敏度100%,特异度100%,假阳性率0,阳性预测值100%,阴性预测值100%。结论 NIPT可作为高危人群21、18号染色体非整倍体的"二次筛查"方案;13号染色体非整倍体检测及性染色体异常检测尚需要提高其特异度。NIPT有望成为产前高危人群筛查染色体非整倍体的一种新模式。Objective To evaluate the clinical application value of non invasive prenatal testing （NIPT） based on the second generation of high-throughput sequencing technologies （HTS）. Methods Eripheral blood plasma samples from 2932 singleton pregnant women requiring NIPT were collected. The cell-free fetal DNA extracted from these samples enriched and sequenced by HTS for detecting chromosome 13, 18 and 21 aneuploidy ang sex chromosome anomaly. All pregnant women with positive testing in NIPT were required for validating by fetal karyotype analysising through invasive procedures such as amniotic cavity or umbilical vein puncture according to gestational age. The NIPT results were compared against the fetal karyotypg and birth follow-up for statistical analysis. Results The test was positive for trisomy 21 in 25 cases,for trisomy 18 in 6 cases,for trisomy 13 in 2 cases, and sex chromosomal abnormalities in 15 cases. In 25 cases with positive for T21,20 cases were confirmed T21, while 1 case was normal, and another one was T18 （placenta detected as T21, T18 chimera） through fetal karyotype analysis. The remaining 3 cases abandoned the diagnosis due to tire stop abortion with consistent abnormal appearance. In 6 cases with positive for T18, 5 cases were confirmed T18,through karyotyping analysis, while 1 case abandoned the diagnosis due to tire stop abortion with consistent abnormal appearance. Two cases of trisomy 13 positive were excluded by fetal karyotyping. In 15 cases with positive for sex chromosomal abnormalities, 4 cases were confirmed by karyotyping as [46, X, del（X） （q25）], [47, XXY], [45, XO] and [47, XXX], while the remaining 6 cases were with normal karyotype. The birth outcomes were followed up in 2716 cases. The results showed no detection of T21/18/13 in the negative group in NIPT. According to the current follow-up data,NIPT reported a comprehensive positive rate of 1.13% for T21/T18/T13 with a sensitivity 100%, specificity 99.85%, false positive rate 0. 15%, positive predictive value 87

关 键 词：染色体非整倍体 核型分析 无创产前检测 

分 类 号：R715[医药卫生—妇产科学]