查看更多>>摘要：目的 分析孕妇外周血胎儿游离DNA(cfDNA)无创产前筛查(NIPT)对于21三体综合征、18三体综合征、13三体综合征、性染色体异常及染色体微缺失/微重复的筛查价值。 方法 选择2015年2月至2021年12月在枣庄市妇幼保健院进行NIPT检测的共计15 237例孕妇作为研究对象。对NIPT筛查高风险孕妇抽取羊水细胞进行G显带染色体核型分析和染色体微阵列检测，明确胎儿NIPT结果与介入性产前诊断的结果一致性。最后，电话随访胎儿妊娠结局，收集胎儿信息。 结果 15 237例孕妇中累计检出染色体异常266例，染色体异常的检出率为1.75%(266/15 237)。266例中筛查出21三体高风险79例(29.7%)，18三体高风险26例(9.77%)，13三体高风险9例(3.38%)，性染色体非整倍体高风险74例(27.82%)，其他常染色体非整倍体高风险12例(4.51%)，染色体微缺失/微重复高风险66例(24.81%)。266例中217例NIPT阳性孕妇同意接受后续介入性产前诊断，确诊21三体50例、18三体13例、13三体1例、性染色体异常25例、其他常染色体非整倍体1例、微缺失/微重复18例，阳性预测值分别为75.76%、68.42%、11.11%、40.32%、10%和35.29%。15 237例孕妇成功随访胎儿妊娠结局13 042例，胎儿妊娠结局随访成功率为85.59%(13 042/15 237)。随访发现21三体假阴性1例，未发现13三体和18三体假阴性。 结论 孕妇cfDNA产前筛查除对13三体、18三体和21三体具备良好的筛查性能外，对其他常染色体非整倍体异常、性染色体非整倍体异常以及微缺失/微重复也具有重要的临床应用价值。 Objective To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal microdeletions and microduplications using cell-free fetal DNA from peripheral blood samples of pregnant women. Methods A total of 15 237 pregnant women who had undergone NIPT screening at the Maternity and Child Health Care Hospital of Zaozhuang from February 2015 to December 2021 were enrolled in this study. For those with a high risk by NIPT, amniotic fluid samples were collected for G-banding chromosomal karyotyping analysis and chromosomal microarray analysis to verify the consistency of NIPT with results of prenatal diagnosis. All of the women were followed up by telephone for pregnancy outcomes. Results Among the 15 237 pregnant women, 266 (1.75%) were detected with a high risk for fetal chromosomal abnormality. Among these, 79 (29.7%) were at a high risk for T21, 26 (9.77%) were at a high risk for T18, 9 (3.38%) were at a high risk for T13, 74 (27.82%) were at a high risk for sex chromosome aneuploidies, 12 (4.51%) were at a high risk for other autosomal aneuploidies, and 66 (24.81%) were at a high risk for chromosomal microdeletions or microduplications. 217 women had accepted invasive prenatal diagnosis and, respectively, 50, 13, 1, 25, 1 and 18 were confirmed with T21, T18, T13, sex chromosome aneuploidies, autosomal aneuploidies and microdeletions/microduplications, with the positive predictive values being 75.76%, 68.42%, 11.11%, 40.32%, 10% and 35.29%, respectively. For 13 042 women (85.59%), the outcome of pregnancy were successfully followed up. During the follow-up, one false negative case of T21 was discovered. No false positive cases for T13 and T18 were found. Conclusion NIPT has a sound performance for screening T13, T18 and T21, and is also valuable for screening other autosomal aneuploidies, sex chromosome aneuploidies and chromosomal microdeletions/microduplications.
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