338例NIPT阳性病例产前诊断结果分析  

Analysis of Prenatal Diagnosis Results of 338 Cases with Positive Non-Invasive DNA Test

作　　者：张艳萍[1] 钟世林[1] 薛利萍[1] 邓玉清[1] ZHANG Yan-ping;ZHONG Shi-lin;XUE Li-ping;DENG Yu-qing(Prenatal Diagnosis Center of Obstetrics and Gynecology,Shenzhen Hospital of Peking University,Shenzhen 518036,Guangdong Province,China)

机构地区：[1]广东省深圳市北京大学深圳医院妇产科产前诊断中心,广东深圳518036

出　　处：《罕少疾病杂志》2022年第11期49-51,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的探讨妊娠期间NIPT阳性结果对临床咨询的价值。方法回顾性分析在我院产科行NIPT,结果异常进一步行介入性产前诊断的338例孕妇,研究NIPT结果与染色体核型和CMA的符合情况,通过分析比较了解NIPT对临床咨询工作的应用价值。结果338例病例共检出胎儿染色体核型异常177例,占52.37%,CMA异常202例,占59.76%,其中致病性异常166例,意义不明确36例。胎儿染色体核型结果,T21高风险的阳性率87.18%,T18高风险的阳性率65.22%,T13高风险的阳性率30%,性染色体数目增多的阳性率69.05%,性染色体数目减少的阳性率28.21%,其他染色体异常的阳性率14.55%,NIPT对T21-三体的检出率最高,CMA额外检出2例致病性异常。结论NIPT准确率高,假阳性率低,可筛查胎儿性染色体异常,对胎儿染色体非整倍体异常及性染色体异常具有较好的临床价值。建议NIPT结果异常孕妇行介入性产前诊断,可同时选择染色体核型分析及CMA检查,提高异常检出率。Objective To investigate the value of positive results of non-invasive DNA detection during pregnancy for clinical consultation.Methods 338 pregnant women with abnormal results of non-invasive DNA test in our prenatal diagnosis center were retrospectively analyzed.The coincidence of non-invasive DNA test results with chromosome karyotype and CMA was studied.The application value of non-invasive DNA test in clinical consultation was analyzed and compared.Results 177 cases(52.37%)in 338 were abnormal in fetal chromosome karyotype,202 cases(59.76%)were abnormal in CMA,in which 166 cases were pathogenic and 36 cases were unclear.The results of fetal chromosome karyotype showed that the positive rate of T21 was 87.18%,T18 was 65.22%,T13 was 30%,increased sex chromosome number was 69.05%,decreased sex chromosome number was 28.21%,other chromosomal abnormalities was 14.55%.The detection rate of T21 trisomy was the highest,and CMA detected two additional cases of pathogenic abnormalities.Conclusion Non-invasive DNA detection has high accuracy and low false positive rate,and can screen fetal sex chromosome abnormalities,has good clinical value for fetal chromosome aneuploidy and sex chromosome abnormalities.Interventional prenatal diagnosis is recommended for pregnant women with abnormal results of non-invasive DNA testing.Chromosome karyotype analysis and CMA examination can be selected at the same time to improve the detection rate of abnormalities.

关 键 词：NIPT 染色体 微阵列 限制性胎盘嵌合体 

分 类 号：R596.1[医药卫生—内科学]