| 唐氏筛查临界风险的非高龄孕妇有必要行无创性产前检测:6804例结果分析 |
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| 引用本文： | 杨兴坤,郭晓玲,钟进,陈志华,吴水娟.唐氏筛查临界风险的非高龄孕妇有必要行无创性产前检测:6804例结果分析[J].南方医科大学学报,2019,39(11):1350-1356. |
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| 作者姓名： | 杨兴坤 郭晓玲 钟进 陈志华 吴水娟 |
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| 作者单位： | 佛山市妇幼保健院产前诊断中心,广东 佛山,528000;佛山市妇幼保健院产前诊断中心,广东 佛山,528000;佛山市妇幼保健院产前诊断中心,广东 佛山,528000;佛山市妇幼保健院产前诊断中心,广东 佛山,528000;佛山市妇幼保健院产前诊断中心,广东 佛山,528000 |
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| 基金项目： | 佛山市医学类科技攻关项目 |
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| 摘 要： | 目的 探讨无创性产前基因检测技术对血清学筛查阳性的非高龄孕妇血浆胎儿游离DNA进行染色体非整倍体检测的有效性。方法 选择2011年10月~2018年6月于佛山市妇幼保健院行无创性产前基因检测的6804例非高龄孕妇（预产期年龄<35
岁）为研究对象，孕周：12~24周，预产期年龄：21~34岁，均为单胎。按照血清学指标分为高风险组和临界风险组，血清学筛查高风险组 3763例（21三体风险值≥1/270或 18三体风险值≥1/350），临界风险组 3041例（1/1000≤21三体风险值<1/270或 1/1000≤18三体风险值<1/350）。对无创性产前基因检测结果阳性的孕妇行羊膜腔穿刺或脐静脉血穿刺，行常规染色体核型分析和/或高通量测序检测。对所有检测孕妇行电话随访，并统计分析无创性产前基因检测的准确性在两组差别有无统计学意义。结果 6801例成功完成无创性产前基因检测，3例样本由于血浆游离DNA浓度过低检测失败。3761例血清学筛查高风险组中产前基因检测染色体拷贝数异常高风险者共70例，其中53例行进一步产前诊断，结果显示高风险组无创性产前检测技术对21三体检测的灵敏度为 95.65%，特异度99.91%，阳性预测值 88.0%，假阳性率 0.09%，假阴性率 4.35%；对 18三体检测的灵敏度100%，特异度100%，阳性预测值100%，假阳性率0，假阴性率0。对13三体检测的假阳性率0.09%，假阴性率0；对性染色体异常检测的灵敏度100%，特异度99.80%，阳性预测值30.0%，假阳性率0.2%，假阴性率0；对其他染色体异常检测的灵敏度100%，特异度99.88%，阳性预测值16.60%，假阳性率0.18%，假阴性率0。3040例血清学筛查临界风险组产前基因检测染色体拷贝数异常高风险者共54例，其中的36例行进一步产前诊断，结果显示临界风险组孕妇无创性产前检测技术对21三体检测的灵敏度为100%，特异度100%，阳性预测值100%，假阳性率0，假阴性率0；对18三体检测的假阳性率0.11%，假阴性率0。13三体检测的假阳性率0.04%，假阴性率0；对性染色体异常检测的灵敏度100%，特异度99.79%，阳性预测值50%，假阳性率0.21%，假阴性率0；对其他染色体异常检测的假阳性率0.18%，假阴性率0。高风险组和临界风险组对21三体和性染色体非整倍体检测敏感度、特异度，假阳性率，阳性预测值差别均无统计学意义（P>0.05）。结论 唐氏筛查高风险但拒绝产前诊断和临界风险的非高龄孕妇很有必要进一步行无创性产前检测。该技术检测胎儿染色体非整倍体具有高敏感度和特异度，假阳性率和假阴性率很低。
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| 关 键 词： | 无创性产前检测 染色体非整倍体 游离胎儿DNA 血清学筛查 |
Noninvasive prenatal genetic testing in 6804 pregnant women aged less than 35 years with positive results in serum screening |
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| Abstract: | Abstract: Objective To investigate the feasibility of noninvasive prenatal genetic testing for detecting chromosome aneuploid in pregnant women aged less than 35 years with positive results in serum screening. Methods We analyzed the plasma cellfree fetal DNA in a total of 6804 pregnant women aged less than 35 years with singleton pregnancy from Foshan maternal and child health care hospital, whose weeks of gestation ranged from 12 to 24 weeks with ages on the expected date of confinement of 21-34 years. According to the results of serum screening, the women were divided to high-risk group and critical-risk group. Amniocentesis or cordocentesis was carried out if the results of noninvasive prenatal genetic testing were positive, and karyotyping or/and high-throughput sequencing was performed as the golden standard. All the women were followed up by telephone calls to assess the accuracy of the prenatal testing. Results Noninvasive prenatal testing was successfully completed in all the 6081 cases. In the high-risk group, 70 women with positive results were tested by noninvasive prenatal testing, among whom 53 were confirmed by karyotyping or high-throughput sequencing. In this group, the sensitivity, specificity and positive predictive value of trisomy 21 syndrome detection was 95.65%, 99.91% and 88.0%, respectively, with a false positive
rate of 0.09% and a false negative rate of 4.35% ; the sensitivity, specificity and positive predictive value for trisomy 18 syndrome was 100%, 100% and 100%, respectively, with false positive and false negative rates of 0; the false positive rate and false negative rate for trisomy 13 syndrome was 0.09% and 0, respectively; the sensitivity, specificity and positive predictive value for sex chromosome aneuploid as 100%, 99.80% and 30.0%, respectively, with a false positive rate of 0.2% and a false negative rate of 0; the sensitivity, specificity and positive predictive value for other chromosome aneuploid was 100%, 99.88% and 16.60%, respectively, with a false positive rate of 0.18% and a false negative rate of 0. In the critical risk group, 54 women with positive results received noninvasive prenatal genetic testing, among whom 36 were confirmed by karyotyping or high-throughput sequencing. The sensitivity, specificity and positive predictive value for trisomy 21 syndrome were all 100% and the false positive rate and false negative rate were both 0; the false positive rate was 0.11% and the false negative rate was 0 for trisomy 18 syndrome; the false positive rate and false negative rate for trisomy 13 syndrome was 0.04% and 0, respectively; the sensitivity, specificity and positive predictive value for sex chromosome aneuploid was 100% , 99.79% and 50.0% , respectively, with a false positive rate of 0.21% and a false negative rate of 0; the false positive rate for other chromosome aneuploid was 0.18% and the false negative rate was 0. No significant differences were found between the two groups in the sensitivity, specificity, positive predictive value and false positive rate for detection of trisomy 21 syndrome and sex chromosome aneuploid (P>0.05). Conclusion Noninvasive prenatal genetic testing is necessary for high-risk pregnant women with critical-risk in serum screening who refuse invasive prenatal diagnosis, and it is highly sensitive and specific fir detecting chromosome aneuploid with low false positive and false negativerates. |
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