摘要
目的探讨胎儿染色体非整倍体无创检测在产前诊断中的应用价值。方法汇总2016年1月至12月在广州中山大学附属第一医院行无创产前检测(non-invasive prenatal testing,NIPT)的1 207例孕妇的检测结果及生育前后追踪随访结果,回顾性分析孕妇行NIPT的指征构成比以及评价NIPT分析性能。结果中山大学附属第一医院临床选择NIPT的指征主要是高龄妊娠(62.55%),其次是血清学筛查异常(25.85%)和不良孕产史(17.23%)。1 207例标本经基因测序检出胎儿染色体非整倍体异常高风险20例,其中21-三体综合征(21-trisomy syndrome,T21)高风险8例,18-三体综合征(18-trisomy syndrome,T18)高风险7例;经染色体核型分析确诊为T21和T18的例数分别为7例和5例。NIPT检测T21的平均Z值为6.710±2.122,95%置信区间(95%confidence interval,95%CI)为4.936~8.484;检测灵敏度为100%(7/7)、特异度为99.92%(1 199/1 200)、漏诊率为0(0/7)、误诊率为0.08%(1/1 200)、诊断准确度为99.92%(1 206/1 207)、阳性预测值为87.5%(7/8)、阴性预测值为100%(1 199/1 199)。检测T18的平均Z值为6.593±2.352,95%CI为4.418~8.768;检测灵敏度为100%(5/5)、特异度为99.83%(1 200/1 202)、漏诊率为0(0/5)、误诊率为0.17%(2/1 202)、诊断准确度为99.83%(1 205/1 207)、阳性预测值为71.43%(5/7)、阴性预测值为100%(1 200/1 200)。结论 NIPT检测胎儿染色体非整倍体异常快速、安全、准确,与染色体核型分析技术具有较高的一致性,在产前诊断中具有良好的临床应用价值。
Objective To explore the clinical value of non-invasive tecting chromosome aneuploidy. Method A total of ] 207 pregnant women prenatal testing （NIPT） in de- enrolled in the First Affiliated Hospital of Sun Yat-sen University who accepted NIPT for chromosomes 21, 18 and 13 from January to De- cember 2016 were analyzed and followed up with around childbirth retrospectively. Invasive prenatal diagnosis followed by fetal chromosome karyotype analysis was recommended in high-risk women following NIPT. The clinical indications and analysis capability of NIPT were examined. Results The most common indication for NIPT was advanced maternal age （62.55%）, followed by serological screening abnormality （25.85%） and negative reproductive history （17.23%）. 20 of 1 207 cases were detected with high-risk fetal abnormal chromosome aneuploidy, including 8 cases with 21-trisomy syndrome （T21）, 7 cases with 18-trisomy syndrome （T18）. 20 cases received amniotic cavity puncture karyotype analysis, the result showed 7 cases with T21 and 5 cases with T18. Comparing the results of NIPT and karyotype analysis, the average Z value for diagnosing T21 was 6.710___2.122, 95% confidence interval （95% C/） was 4.936-8.484, the sensitivity was 100% （7/7）, the specific- ity was 99.92% （1 199/1 200）, the missed diagnosis rate was 0 （0/7）, the misdiagnosis rate was 0.08% （1/1 200）, the accuracy rate was 99.92% （1 206/1 207）, the positive predictive value was 87.5% （7/8） and the negative predictive value was 100% （1 199/1 199）. The average Z value for diagnosing T18 was 6.593＋ 2.352, 95%CI was 4.418~8.768, the sensitivity was 100% （5/5）, the specificity was 99.83% （1 200/1 202）, the missed diagnosis rate was 0 （0/5） , the misdiagnosis rate was 0.17% （2/1 202）, the accuracy rate was 99.83% （1 205/1 207）, the positive predictive value was 71.43% （5/7） and the negative predictive value was 100% （1 200/1 200）. Conclusions NIPT had the advantage of speed, safety and high accuracy. It was con- sistent with karyotype analysis and has value in prenatal diagnosis.
出处
《分子诊断与治疗杂志》
2018年第2期96-102,共7页
Journal of Molecular Diagnostics and Therapy
