联合探针锚定聚合测序法检测胎儿染色体非整倍体效果评价  

Evaluation on the effect of combined probe anchored polymerization sequencing in detecting fetal chromosomal aneuploidy

作　　者：王飞[1] 庄丹燕[1] 潘小莉[1] 施丹华[1] 周颖[1] 李海波 WANG Fei;ZHUANG Dan-yan;PAN Xiao-li;SHI Dan-hua;ZHOU Ying;LI Hai-bo(Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects,Ningbo Women and Children's Hospital,Zhejiang 315012,China)

机构地区：[1]宁波市妇女儿童医院出生缺陷综合防治重点实验室,浙江315012

出　　处：《中国卫生检验杂志》2023年第4期455-458,共4页Chinese Journal of Health Laboratory Technology

基　　金：宁波市公益性科技计划项目(2022S035);宁波市品牌学科(PPXK2018-06)。

摘　　要：目的 探讨联合探针锚定聚合测序法(CPAS)检测胎儿染色体非整倍体的临床检测效果。方法 回顾性分析2018年5月-2021年12月用胎儿染色体非整倍体(T21、T18、T13)试剂盒检测的高危孕妇临床数据,与金标准方法进行比对,通过灵敏度、特异度、阳性预测值、阴性预测值、总符合率和一致性系数Kappa(K)值进行方法学评价。结果 14 837例有效孕妇数据中,共检出NIPT阳性44例(0.30%),其中T21阳性22例(0.15%),T18阳性15例(0.10%),T13阳性7例(0.05%)。金标准结果中T21/T18/T13阳性共有24例(0.16%),其中T21阳性15例(0.10%),T18阳性7例(0.05%),T13阳性2例(0.01%)。T21的灵敏度、特异度分别为100.00%、99.95%,T18的灵敏度、特异度分别为100%、99.95%,T13的灵敏度、特异度分别为100.00%、99.97%。结论 cPAS的NIPT集中筛查方法在高危人群中具有很高的稳定性,和之前的验证研究性能相当。Objective This paper aims to explore the clinical detection effect of combined probe anchored polymerization sequencing(CPAs) in detecting fetal chromosomal aneuploidy. Methods The clinical data of high-risk pregnant women tested with fetal chromosome aneuploidy(T21, T18, T13) kits from May 2018 to December 2021 were retrospectively analyzed and compared with the gold standard method. The sensitivity, specificity, positive predictive value, negative predictive value, total coincidence rate and consistency coefficient Kappa(K) value were used for methodological evaluation. Results Among 14 837 valid pregnant women, NIPT were positive in 44(0.30%) cases, including 22(0.15%) cases of T21, 15(0.10%) cases of T18 and 7(0.05%) cases of T13. There were 24 positive cases(0.16%) of T21/T18/T13 in gold standard results, including 15 cases(0.10%) of T21, 7 cases(0.05%) of T18, and 2 cases(0.01%) of T13. The sensitivity and specificity of T21 were 100.00% and 99.95%, respectively, and the sensitivity and specificity of T18 were 100.00% and 99.95%, the sensitivity and specificity of T13 were 100.00% and 99.97%. Conclusion The NIPT centralized screening method of cPAS showed high stability in high-risk populations, equivalent to the performance of previous validation studies.

关 键 词：联合探针锚定聚合测序法 无创产前筛查 非整倍体 方法学评价 

分 类 号：R446.1[医药卫生—诊断学]