| 无创DNA检测结果为高风险孕妇的产前诊断结果及妊娠结局分析 |
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| 引用本文： | 曹旭,宋辉,王清枚,刘彬,梁玉,吉晓燕.无创DNA检测结果为高风险孕妇的产前诊断结果及妊娠结局分析[J].蚌埠医学院学报,2019,44(4):484-486. |
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| 作者姓名： | 曹旭 宋辉 王清枚 刘彬 梁玉 吉晓燕 |
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| 作者单位： | 皖北煤电集团总医院 产前诊断中心, 安徽 宿州 234000 |
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| 摘 要： | 目的探讨无创DNA检测结果为阳性的高风险孕妇产前诊断结果及妊娠结局。方法对无创产前DNA检测的5 077名孕妇外周血中游离胎儿DNA进行二代测序，检查结果为阳性者建议进一步做羊水穿刺进行细胞核型分析确认，并进行电话追踪随访。结果5 077名受检孕妇中检测结果为高风险者64例，包括21-三体28例，18-三体4例，13-三体3例，性染色体异常14例，其他染色体异常8例，微缺失微重复7例。54例进行了羊水穿刺，其中21-三体24例，确诊23例；18-三体4例，确诊2例；13-三体3例，确诊1例；性染色体异常11例，确诊5例；其他染色体异常6例，确诊0例；微缺失微重复6例，确诊2例。1例无创DNA检测结果为阴性，因超声检查提示多发异常，羊水穿刺结果证实为18-三体。结论无创DNA产前检测对21-三体综合征的阳性预测值较高，但仍有假阳性和假阴性的发生，不能完全代替核型分析；无创DNA产前检测对18-三体综合征和13-三体综合征阳性预测值仍存在很大偏差，但其可检测到微缺失微重复异常，具有染色体核型分析不可代替的优越性。
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| 关 键 词： | 产前检测 羊水穿刺 核型分析 |
| 收稿时间： | 2018-09-03 |
Analysis of the prenatal diagnosis and pregnancy outcome in 64 high risk cases with positive results of non-invasive DNA testing |
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| Affiliation: | Antepartum Diagnostic Center, The General Hospital of Anhui North Coal Group, Suzhou Anhui 234000, China |
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| Abstract: | ObjectiveTo analyze the antenatal diagnosis and pregnancy outcome in high risk pregnant women with positive results of the non-invasive prenatal DNA testing, and discuss its clinical significance.MethodsThe non-invasive prenatal DNA testing in 5 077 pregnant women were implemented, the free fetal DNA in maternal peripheral blood of the second generation was sequenced.The positive was confirmed by the cell karyotype detected by amniocentesis, and followed up by telephone.ResultsAmong 5 077 pregnant women detected by non-invasive prenatal DNA testing, the high risk in 64 cases was identified, which included 28 cases of 21-trisomy, 4 cases of 18-trisomy, 3 cases of 13-trisomy, 14 cases of sexual chromosome abnormality, 8 cases of other chromosome abnormality and 7 cases of microdeletion and microduplication.Amniocentesis was performed in 54 cases, the results showed that 23 cases were confirmed among 24 cases of 21-trisomy, 2 cases were confirmed among 4 cases of 18-trisomy, 1 case was confirmed among 3 cases of trisomy, 5 cases were confirmed among 11 cases of sex chromosome, no case was confirmed among 6 cases of other chromosomes, and 2 cases were confirmed among 6 cases of micro deletion and micro duplication.The non-invasive DNA testing results showed 1 case was negative, the ultrasound examination suggested the multiple abnormalities, and the amniocentesis result showed which was the 18-trisomy.ConclusionsThe positive predictive value of 21-trisomy syndrome is higher by the non-invasive prenatal DNA testing, but the false positive and false negative result still occur, which cannot completely replace karyotype analysis.The non-invasive DNA prenatal testing is still far from the positive predictive value of 18-trisomy syndrome and 13-trisomy syndrome, but it can detect micro-deletion and micro-repetition abnormalities, which has irreplaceable superiority over the karyotype analysis. |
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