无创产前筛查临界风险值样本重复检测的意义

Clinical value of repeated noninvasive prenatal test for cases with first results being at average risk

  • 摘要: 目的 探讨高通量基因测序无创产前筛查(noninvasive prenatal test,NIPT)检测结果为临界风险值的病例进行第2次重复检测的意义。方法 收集2015年10月-2018年8月166例在我院行NIPT检测且进行2次重复实验的样本,分析两次检测结果之间是否存在差异。纳入标准:1)第1次NIPT检测T21、T18或T13结果为1.96~4;2)取得NIPT报告;3)有产前诊断结果和电话随访妊娠结局。结果 166例中,7例第1次检测显示高风险临界风险值(3 <Z <4),第2次重复检测Z值均<3;4例第1次检测结果低风险临界值(1.96 <Z <3)重复检测后,1例21-三体高风险(Z=3.37)、2例18-三体高风险(Z=3.26;Z=4.47)及1例性染色体异常XXY。166例重复检测病例妊娠结局随访中,4例产前诊断结果证实1例21三体(21 trisomy T21)、3例未见异常。T21患者在后期电话随访时已终止妊娠,165例电话随访未见21、18、13号染色体异常。结论 NIPT实验室检测时对Z值在临界风险值(1.96~4)的样本进行第2次重复检测是必要的,有利于提高NIPT检出准确率,降低假阳性及假阴性率,降低羊水穿刺率,提高产前诊断准确率。

     

    Abstract: Objective To explore the clinical value of repeated noninvasive prenatal test(NIPT) for cases with first NIPT results being at average risk. Methods Totally 166 cases who had undergone NIPT tests twice in our hospital from October 2015 to August 2018 were included in our study to analyze the necessity of repeated detection. The inclusion criteria included that the first NIPT yield a result(Z-score) ranged from 1.96 to 4, and second NIPT succeed to provide a test result, meanwhile they had the results of prenatal diagnosis and their pregnancy outcome were followed up by telephone. Results In the first test, 7 of 166 cases were at high risk whose Z value were between 3-4 while second tests all yielded low risk(Z <3); Four of 166 cases were at low risk in the first test(1.96<Z <3), and then they showed high risk after second detection, one case showed high risk for T21(Z=3.37), two cases showed high risk for T18(Z=3.26; Z=4.47) and 1 case with sex chromosomal abnormality(XXY). During the follow-up, one case was confirmed T21 by results of karyotype analysis and fluorescence in situ hybridization and terminated the pregnancy. Abnormalities of chromosome 21, 18, 13 were not found in 165 cases of repeated examination by telephone follow-up. Conclusion It is necessary to carry out repeated NIPT for cases with Z value between 1.96 and 4, which can increase the accuracy of NIPT, reduce the false positive and false negative rate, decrease the number of patients undergoing amniocentesis and improve the efficiency of prenatal diagnosis.

     

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