摘要
目的:分析扩展性无创产前检测(NIPT-plus)用于胎儿染色体异常筛查的效果。方法:选取符合无创产前检测指征的孕妇9 136例,其中6 110例接受无创产前检测(NIPT),3 026例接受NIPT-plus,共检出265例高风险孕妇,其中248例行介入性产前诊断(低深度全基因组测序和染色体微阵列分析)以进一步明确诊断。结果:NIPT对21-三体、18-三体、13-三体的阳性预测值分别为90.24%、82.14%、14.29%,对性染色体非整倍体(SCA)的阳性预测值为26.23%,对拷贝数变异(CNV)的阳性预测值为33.33%,总阳性预测值为50.86%;NIPT-plus对以上异常的阳性预测值分别为93.33%、83.33%、0.00%、38.46%、32.26%,总阳性预测值为53.42%;两种方法比较,差异均无统计学意义(P均>0.05)。结论:NIPT-plus与NIPT筛查胎儿染色体异常的效能相近,其中对21-三体、18-三体的阳性预测值较高,具有较高的临床应用价值。
Aim:To investigate the efficacy of extended non-invasive prenatal testing(NIPT-plus) in screening fetal chromosomal abnormalities.Methods:A total of 9 136 pregnant women who met the indications for non-invasive prenatal testing(NIPT) or NIPT-plus were selected,among whom,6 110 accepted NIPT and 3 026 accepted NIPT-plus.Totally 265 high-risk pregnant women were identified,out of whom,248 underwent invasive prenatal diagnosis(copy number variation sequencing and chromosomal microarray analysis) for further identification.Results:The positive predictive value(PPV) of NIPT for trisomy 21,trisomy 18,trisomy 13,sex chromosome aneuploidy(SCA),and copy number variant(CNV) was 90.24%,82.14%,14.29%,26.23%,and 33.33%,respectively,and the PPV of NIPT-plus for the above abnormalities was 93.33%,83.33%,0.00%,38.46%,32.26%;the total PPV of NIPT and NIPT-plus was 50.86% and 53.42%,and there were no significant differences in PPV of the 2 methods for chromosomal abnormalities(P>0.05).Conclusion:NIPT-plus and NIPT have similar efficacy in screening fetal chromosomal abnormalities,especially for detection of trisomy 21 and trisomy 18.
作者
吕虹
吴玥丽
刘灵
崔世红
李莹
田伟芳
殷贵霞
麻雪利
LYU Hong;WU Yueli;LIU Ling;CUI Shihong;LI Ying;TIAN Weifang;YIN Guixia;MA Xueli(Prenatal Diagnosis Center,the Third Affiliated Hospital,Zhengzhou University,Zhengzhou 450002)
出处
《郑州大学学报（医学版）》
CAS
北大核心
2022年第6期840-844,共5页
Journal of Zhengzhou University(Medical Sciences)
基金
河南省医学科技攻关计划(201602139)。
关键词
无创产前检测
扩展性无创产前检测
染色体异常
非整倍体
拷贝数变异
non-invasive prenatal testing
non-invasive prenatal testing plus
chromosomal abnormality
aneuploidy
copy number variant
