论文部分内容阅读
目的验证胎儿染色体非整倍体(T21、T18、T13)基因检测试剂盒(联合探针锚定连接测序法)在临床检测上的准确性和有效性。方法选择广东省东莞市妇幼保健院的孕妇外周血样本,采用胎儿染色体非整倍体(T21、T18、T13)基因检测试剂盒通过联合探针锚定连接测序法检测,并将结果与临床诊断金标准染色体核型分析结果或出生随访结果作对比。对灵敏度、特异性、总符合率和一致性系数Kappa值进行评价,以验证该试剂盒在临床检测上的准确性和有效性。结果共完成有效样本389例,测序法检出T21阳性6例,T18和T13均未检出阳性,与染色体核型分析结果相符,检测为阴性共383例,经电话随访至出生未发现非整倍体胎儿。统计分析结果显示,测序法与核型分析法总符合率为100%,Kappa=1(≥0.8),其中检测T21的灵敏度、特异性、阳性预测值、阴性预测值均为100%;检测T18和T13的特异性、阴性预测值均为100%。结论采用试剂盒通过联合探针锚定连接测序法检测T21、T18、T13的结果准确度高且方法安全,可以在临床上推广使用。
Objective To verify the accuracy and validity of the detection kit for fetal chromosome aneuploidy (T21, T18, T13) in clinical detection. Methods The pregnant women ’s peripheral blood samples were collected from Dongguan Maternal and Child Health Care Hospital of Guangdong Province. The fetuses were detected by the combined probe anchoring and sequencing method using fetal aneuploidy (T21, T18, T13) gene detection kit and the results were correlated with clinical diagnosis Gold standard karyotype analysis results or birth follow-up results for comparison. The sensitivity, specificity, overall coincidence rate and Kappa value of conformance coefficient were evaluated to verify the accuracy and validity of this kit in clinical testing. Results A total of 389 valid samples were completed. T21 positive samples were detected in 6 cases by sequencing. No positive samples were found in T18 and T13. The results were consistent with the results of chromosome karyotype analysis. A total of 383 cases were negative. No follow-up was found Ploidy fetus. Statistical analysis showed that the overall coincidence rate of sequencing and karyotype analysis was 100%, Kappa = 1 (≥0.8), in which the sensitivity, specificity, positive predictive value and negative predictive value of T21 were all 100% And T13 specificity, negative predictive value was 100%. Conclusions The detection of T21, T18 and T13 by the method of kit-based probe anchoring ligation and sequencing is highly accurate and safe and can be widely used clinically.