河北省免费NIPT联合PAPP-A、F-β-HCG及超声检查诊断孕中期胎儿染色体异常的意义
The significance of free NIPT joint PAPP-A,F-β-HCG and ultrasound examination in diagnosing chromosomal abnormali-ties in fetuses during mid pregnancy in Hebei Province
李丽霞 1朱晓明 2韩文莹1
作者信息
- 1. 河北省衡水市第二人民医院产一科,河北衡水 053000
- 2. 解放军总医院海南医院妇产科,海南三亚 572000
- 折叠
摘要
目的 评价河北行免费的无创产前DNA检测(NIPT),联合血清妊娠相关血浆蛋白-A(PAPP-A)、游离β-人绒毛膜促性腺激素(F-β-HCG)检测及超声对孕中期染色体异常的诊断价值.方法 选取衡水市第二人民医院2019年1月至2023年1月接收的3 591例拟行染色体检测的孕中期妇女,均行免费NIPT联合血清学指标(PAPP-A、F-β-HCG)及超声检查.将羊水穿刺染色体核型分析结果记为金标准,采用受试者工作特征曲线(ROC)评价不同方法诊断孕中期染色体异常的价值.结果 经随访,在3 591例中,共有39例染色体异常,其中,32例经超声检查有染色体异常,34例经NIPT检测有染色体异常.在3 552例染色体正常的胎儿中,34例经超声检查有染色体异常,36例经NIPT检测有染色体异常;染色体异常胎儿的母体PAPP-A、F-β-HCG水平均高于染色体正常胎儿的母体(P＜0.05).PAPP-A、F-β-HCG共同诊断胎儿染色体异常的敏感度及ROC曲线下方的面积(AUC)均高于母体PAPP-A、F-β-HCG单独诊断(P＜0.05);NIPT,PAPP-A、F-β-HCG及超声的联合诊断的敏感度及AUC均高于NIPT,PAPP-A、F-β-HCG,超声的单独诊断(P＜0.05),且不同方法诊断染色体异常的特异度对比差异均无统计学意义(P＞0.05).结论 孕中期胎儿染色体异常的母体PAPP-A、F-β-HCG水平高,且NIPT联合PAPP-A、F-β-HCG及超声诊断染色体异常有较好的价值.
Abstract
Objective To evaluate the diagnostic value of the free non-invasive prenatal DNA testing(NIPT)in He-bei Province,combined with serum pregnancy related plasma protein-A(PAPP-A)and free β-HCG(F-β-HCG)and ul-trasound for chromosomal abnormalities in mid pregnancy.Methods A total of 3 591 pregnant women who planned to undergo chromosome testing at the Second People's Hospital of Hengshui City from January 2019 to January 2023 were selected,all of whom underwent free NIPT combined with serological indicators(PAPP-A、F-β-HCG)and ultra-sound examination.Record the results of amniocentesis chromosome karyotyping analysis as the gold standard,and e-valuate the value of different methods for diagnosing chromosomal abnormalities in mid pregnancy using the subject op-erating characteristic curve(ROC).Results After follow-up,out of 3 591 cases,there were a total of 39 cases chromo-somal abnormalities,of which 32 cases had chromosomal abnormalities through ultrasound examination and 34 cases had chromosomal abnormalities through NIPT.Among 3 552 fetuses with normal chromosomes,34 cases had chromo-somal abnormalities through ultrasound and 36 cases had chromosomal abnormalities through NIPT;PAPP-A and F-β-HCG of the mothers of fetuses with chromosomal abnormalities were higher than those of fetuses with normal chromo-somes(P＜0.05).The sensitivity of PAPP-A and F-β-HCG co-diagnosis of fetal chromosomal abnormalities and the ar-ea below the ROC curve(AUC)are higher than those of maternal PAPP-A and F-β-HCG separate diagnosis of HCG(P＜0.05);The sensitivity and AUC of the combined diagnosis of NIPT,PAPP-A、F-β-HCG and ultrasound were higher than those of the individual diagnosis of NIPT,PAPP-A、F-β-HCG and ultrasound.There was no statistically significant difference in the specificity of different methods for diagnosing chromosomal abnormalities(P＞0.05).Conclusion The maternal PAPP-A、F-β-HCG level of fetal chromosomal abnormalities in mid pregnancy is high,and the combined diagno-sis of NIPT,PAPP-A、F-β-HCG and ultrasound have ideal value in diagnosing chromosomal abnormalities.
关键词
无创产前DNA检测/血清妊娠相关血浆蛋白-A/游离β-人绒毛膜促性腺激素/染色体异常Key words
non-invasive prenatal DNA testing/serum pregnancy associated plasma protein-A/free β-Human chori-onic gonadotropin/chromosomal abnormalities引用本文复制引用
基金项目
国家自然科学基金面上项目(81471474)
河北省衡水市科技计划(2018014020Z)
出版年
2024
NETL
NSTL
万方数据