摘要
目的分析孕中期高危孕妇外周血中胎儿游离DNA(Cell-free fetal DNA,cffDNA)与高危产前诊断指征相关性。方法研究对象为2018年7月-2019年7月在遂宁市中心医院产前诊断中心接受外周血cffDNA筛查的3176例孕中期高危孕妇,记录高危产前诊断指征、cffDNA检测结果,分析不同高危产前诊断指征的孕中期高危孕妇外周血cffDNA筛查结果,以染色体核型检查结果为对照,分析孕中期高危孕妇外周血中cffDNA的筛查价值。结果3176例孕中期高危孕妇的产前诊断指征分别为高龄(年龄≥35岁)33.63%(1068/3176)、血清学筛查临界风险31.30%(994/3176)、血清学筛查高风险18.29%(581/3176)、不良孕产史2.90%(92/3176)、B超软指标异常2.39%(76/3176)、B超提示胎儿结构异常0.22%(7/3176)、其他11.30%(359/3176)。cffDNA检查结果显示57(1.79%)例孕妇外周血cffDNA检查结果为高风险,以B超提示胎儿结构异常的孕妇外周血cffDNA检测高风险相对比例最高,为28.57%,血清学筛查高风险(2.75%)、不良孕产史(2.17%)、高龄(1.97%)、血清学筛查临界风险(1.21%)、其他(1.12%)。57例孕妇外周血cffDNA高风险患者中,56.14%的孕妇染色体核型分析染色体核型异常,cffDNA高风险预测21三体的准确率最高(82.60%)。结论孕中期高危孕妇外周血中cffDNA与高危产前诊断指征存在一定关系,孕中期开展外周血cffDNA筛查期较高的灵敏度、特异度,具有无创、准确率高的特点,尤其是对T21的筛查具有较高的准确度。
Objective To analyze the correlation between cell-free fetal DNA(cffDNA)in peripheral blood of highrisk pregnant women in the second trimester and high-risk indications of prenatal diagnosis.Methods A total of 3,176 high-risk pregnant women in the second trimester who underwent peripheral blood cffDNA screening at prenatal diagnosis center of the hospital during the period from July 2018 to July 2019 were selected as the research subjects.The high-risk indications of prenatal diagnosis and cffDNA test results were recorded.Peripheral blood cffDNA screening results of subjects with different indications of prenatal high-risk diagnosis were analyzed.The examination results of chromosome karyotypes were taken as control to analyze the value of peripheral blood cffDNA screening among highrisk pregnant women in the second trimester.Results The indications of prenatal diagnosis in this study included advanced age(≥35 years old)[33.63%(1,068/3,176)],critical risk of serological screening[31.30%(994/3,175)],high risk of serological screening[18.29%(581/3,176)],history of adverse pregnancy and delivery[2.90%(92/3,176)],abnormal soft indexes of B-ultrasound[2.39%(76/3,176)],abnormal fetal structure displayed by B-ultrasound[0.22%(7/3,176)]and other factors[11.30%(359/3,176)].The cffDNA test results of 57(1.79%)cases showed high risk.The proportion of abnormal fetal structure detected by B-ultrasound was the highest(28.57%),followed by high risk of serological screening(2.75%),history of adverse pregnancy and delivery(2.17%),advanced age(1.97%),critical risk of serological screening(1.21%)and other factors(1.12%).Among 57 high-risk pregnant women with peripheral blood cffDNA,56.14%had abnormal karyotypes.The accuracy rate of high-risk cffDNA for predicting trisomy 21 was the highest,which was 82.60%.Conclusion The cffDNA in peripheral blood of high-risk pregnant women in the second trimester is related to high-risk indications of prenatal diagnosis.Maternal peripheral blood cffDNA screening in the second trimester has rel
作者
赵咏梅
张传英
席海林
ZHAO Yong-mei;ZHANG Chuan-ying;XI Hai-lin(Prenatal Diagnostic Laboratory of Sichuan Suining Central Hospital,Suining Sichuan 629000 China)
出处
《中国实验诊断学》
2021年第2期229-232,共4页
Chinese Journal of Laboratory Diagnosis
关键词
孕中期
高危孕妇
外周血
胎儿游离DNA
高危产前诊断指征
Second trimester
High-risk pregnant woman
Peripheral blood
Cell-free fetal DNA
High-risk indications of prenatal diagnosis
