CMA联合NIPT技术对孕中期胎儿染色体异常的筛查价值分析  

Analysis of the value of chromosome microarray analysis combined with noninvasive prenatal testing technique for screening the fetal chromosomal abnormalities during the second trimester of pregnancy

作　　者：耿志欣 何凤娟 徐晶晶[1] GENG Zhixin;HE Fengjuan;XU Jingjing(Suqian Hospital,Jiangsu Province People's Hospital,Suqian,Jiangsu Province,223800)

机构地区：[1]江苏省人民医院宿迁医院,223800

出　　处：《中国计划生育学杂志》2025年第2期473-478,共6页Chinese Journal of Family Planning

基　　金：江苏省宿迁市自然科学基金(K202212)。

摘　　要：目的:观察染色体微阵列分析(CMA)联合无创产前筛查(NIPT)用于孕中期胎儿染色体异常筛查的价值。方法:2019年3月-2023年3月对在本市多家筛查机构行孕中期产前检查的26 888例孕妇进行产前CMA、NIPT等技术检查,分析CMA与NIPT联合筛查的应用价值。结果:26 888例孕妇血清学筛查具有产前诊断指征的孕妇占12.2%,NIPT筛查染色体异常高风险564例,占2.1%;对羊水穿刺进行诊断的564例孕妇行CMA检测,显示染色体异常390例,与NIPT筛查结果符合率为69.2%,染色体核型分析染色体异常376例,与NIPT筛查结果符合率为66.7%,CMA、染色体核型分析分别与NIPT筛查结果符合率比较无统计学差异(χ^(2)=0.797,P=0.372);经CMA与染色体核型分析一致性检验发现,CMA检验染色体异常的灵敏度、特异度、准确率、阳性预测值、阴性预测值分别为93.6%、79.8%、89.0%、90.3%、86.2%,kappa值为0.75;CMA检测结果显示性染色体及13、18、21-三体病例中合并染色体微重复缺失11例。结论:孕中期采用NIPT进行染色体异常高风险筛查,必要时可结合CMA、染色体核型分析可有助于检出胎儿染色体异常情况。Objective: To observe the value of chromosome microarray analysis(CMA) combined with noninvasive prenatal testing(NIPT) technique for screening the fetal chromosomal abnormalities during the second trimester of pregnancy. Methods: From March 2019 to March 2023, 26888 pregnant women who underwent prenatal examination during the second trimester of pregnancy in several screening institutions had received prenatal CMA, NIPT and other technical examinations to observe their fetal chromosomal abnormalities situation. The application value of CMA combined with NIPT for screening the chromosomal abnormalities of the fetus during the second trimester of pregnancy was analyzed. Results: Among 26,888 pregnant women, there were 12.2% women with prenatal diagnosis indications, and 564(2.1%) women with the high risk of the fetal chromosomal abnormalities detected by NIPT. In 564 women who were given diagnosis by amniocentesis, there were 390 women with the fetal chromosomal abnormalities detected by CMA, and the coincidence rate between CMA and the NIPT screening results was 69.2%. There were 376 women with the fetal chromosomal abnormalities detected by chromosome karyotype analysis, and the coincidence rate between the karyotype analysis and the NIPT screening results was 66.7%. There was no significant difference in the coincidence rate for diagnosing the fetal chromosomal abnormalities of the women between CMA or chromosome karyotype analysis and NIPT(χ^(2)=0.797, P=0.372). The sensitivity, the specificity, the accuracy, the positive predictive value, the negative predictive value and the kappa value of CMA for screening the fetal chromosomal abnormalities of the women were 93.6%,79.8%,89.0%,90.3%,86.2% and 0.75,respectively.The result of CMA showed that 11women with abnormal sex chromosome or with trisomy 13,18and 21had also the chromosome microduplication deletion.Conclusion:During the second trimester of pregnancy,NIPT can be used to screen the high risk of the fetal chromosome abnormalities.CMA or chromosomal karyoty

关 键 词：无创产前筛查 染色体微阵列分析 染色体核型分析 

分 类 号：R71[医药卫生—妇产科学]