18 755例孕妇无创DNA检测的产前诊断结果分析-现代医学

18 755例孕妇无创DNA检测的产前诊断结果分析

单位：1. 南京医科大学第一附属医院产科, 江苏南京 210029;
2. 淮安市妇幼保健院医学遗传与产前筛查科, 江苏淮安 223002

分类号：R394

出版年·卷·期（页码）：2022·50·第八期（1015-1021）

摘要：

目的：讨论非侵入性无创DNA检测技术(NIPT)在筛查胎儿染色体疾病方面的价值和意义。方法：选取2018年1月1日至2020年12月31日在我院接受NIPT检测的孕妇共18 755例，对于NIPT高风险孕妇在知情同意后进一步进行羊膜腔穿刺术进行胎儿染色体核型及染色体微阵列分析(CMA)检测，对所有病例的检测结果及妊娠结局进行汇总分析。结果：18 755例孕妇中，NIPT提示高风险的孕妇共409例，阳性率为2.18%。其中360例孕妇接受了羊膜腔穿刺染色体核型分析及CMA检测，确诊21-三体48例，18-三体1例，13-三体1例，性染色体异常42例，染色体微缺失微重复综合症73例，其他染色体异常6例。NIPT检测技术对于高龄、超声异常、血清学检测高风险、血清学检测临界风险、自愿要求检测不同分组的孕妇的阳性染色体异常的阳性预测值(positive predictive value，PPV)分别为55.84%、50.00%、51.43%、47.14%、42.41%，对于21-三体、18-三体、13-三体、性染色体异常、染色体微缺失微重复综合症、其他染色体异常的PPV分别为90.57%、12.5%、8.33%、40.78%、54.07%、12.24%。经染色体核型分析和CMA检测确诊为染色体异常的比例分别为29.44%和47.22%。结论：利用母血中胎儿游离DNA对胎儿非侵入性无创DNA产前检测对于以上各类人群都具有较高的阳性预测值，但是对不同类型染色体异常的阳性预测值差异较大，部分疾病的检测准确性偏低，同时也存在假阳性风险，可以作为侵入性产前诊断之前的筛查方法，检测阳性孕妇应接受侵入性产前诊断进一步明确诊断。CMA技术比传统的染色体核型分析具有更高的染色体异常检出率，建议对于NIPT检测阳性的孕妇进行两项联合检查。

Objective: To discuss the value and the significance of non-invasive DNA testing (NIPT) in screening fetal chromosomal diseases.Methods: A total of 18 755 pregnant women who underwent NIPT testing in our hospital from January 1,2018 to December 31,2020 were selected.For high-risk pregnant women with NIPT,after informed consent,amniocentesis was further performed to detect fetal chromosome karyotype and chromosomal microarray analysis (CMA),and the test results and pregnancy outcomes of all cases were summarized andanalyzed.Results: Among 18 755 pregnant women,NIPT vevealed that 409 were at high risk,with a positive rate of 2.18%.Among them,360 pregnant women underwent amniocentesis,chromosome karyotype analysis and CMA detection.48 cases were confirmed to have trisomy 21,1 case trisomy 18,1 case trisomy 13,42 cases sex chromosome abnormalities,73 cases chromosome microdeletion and microduplication syndrome,and 6 cases other chromosome abnormalities.The positive predictive value (PPV) of NIPTfor the elderly and those having abnormal ultrasound,high risk of serological detection,critical risk of serological detection and voluntary requirements to detect positive chromosomal abnormalities of pregnant women were 55.84%,50.00%,51.43%,47.14%,42.41%,respectively.For trisomy 21,trisomy 18,trisomy 13,sex chromosome abnormalities,chromosome microdeletion and microduplication syndrome PPV of other chromosomal abnormalities were 90.57%,12.5%,8.33%,40.78%,54.07% and 12.24% respectively.The proportion of chromosomal abnormalities confirmed by karyotype analysis and CMA detection was 29.44% and 47.22% respectively.Conclusion: The non-invasive prenatal detection of fetal free DNA in maternal blood has a high positive predictive value for the above-mentioned groups,but the positive predictive value of different types of chromosomal abnormalities varies greatly,the detection accuracy of some diseases is low,and there is also a risk of false positivity,which can be used as a screening method before invasive prenatal diagnosis.Pregnant women with positive test should receive invasive prenatal diagnosis to further clarify the diagnosis.CMA technology has a higher detection rate of chromosomal abnormalities than traditional karyotype analysis.It is recommended to carry out the two joint examinations for pregnant women with positive NIPT test.

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