某地区1716例孕妇无创DNA产前筛查与唐氏筛查结果分析  被引量:2

Analysis of non-invasive DNA prenatal and Down's syndrome screening results in 1716 pregnant women in a selected region

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作  者:李晶晶[1] DAVID Lubasi Nalisa 孙宗立[1] 贾萌萌[1] 刘玉钱 LI Jingjing;DAVID Lubasi Nalisa;SUN Zongli;JIA Mengmeng;LIU Yuqian(Clinical Medical College,Henan University of Science and Technology,The First Affiliated Hospital,Henan University of Science and Technology,Luoyang Endocrine Metabolism,Henan Key Laboratory of Rare Diseases,Luoyang 471003,China;Laboratory of Obstetrics and Gynecology,Luoyang Central Hospital Affiliated to Zhengzhou University)

机构地区:[1]河南科技大学临床医学院/河南科技大学第一附属医院/洛阳市内分泌代谢中心/河南省罕见病重点实验室,河南洛阳471003 [2]郑州大学附属洛阳市中心医院妇产医学部实验室

出  处:《现代疾病预防控制》2023年第10期787-792,共6页MODERN DISEASE CONTROL AND PREVENTION

基  金:河南省医学科技攻关计划联合共建项目(2018020271);洛阳市医疗卫生科技计划项目(1920007A)。

摘  要:目的对某地区孕妇无创DNA产前筛查及唐氏筛查结果进行分析,为妊娠中期孕妇选择合适的产前筛查方式提供临床依据。方法选取某地区2019年1月至2022年5月期间进行无创DNA产前筛查且有唐氏筛查结果的中孕期妇女1716例,对两项检测结果进行统计分析并研究其一致性。结果研究对象无创DNA检测结果与其唐筛结果有较大差异,无创DNA检测结果异常者34例(1.98%)低于唐筛结果异常者1325例(77.21%);26~30岁年龄段为染色体异常检出率高发年龄段;两项检测结果均异常者23例(1.34%),均正常者380例(22.14%),唐筛与无创DNA筛查结果的符合率为23.48%;产后随访发现,两项筛查结果均异常者中,1例超雌综合征,1例21号染色体异常,1例7号染色体长臂较大片段缺失,1例羊穿结果未见异常(唐筛与无创结果均有异常)但新生儿发生出生缺陷。结论唐氏筛查在中孕期妇女产前筛查中具有非常重要的作用,同时进行无创DNA产前筛查更有利于做好出生缺陷的二级预防。Objective To analyze the results of non-invasive DNA prenatal screening and Down's syndrome screening in pregnant women in a region for providing clinical evidence to choose an appropriate prenatal screening mode in mid-pregnancy.Methods Seventeen hundred and sixteen mid-pregnancy women who underwent non-invasive DNA prenatal screening and had Down's screening results between January 2019 and May 2022 in a region were selected,and the two test results were statistically analyzed,and their consistency was studied.Results There were significant differences between the results of noninvasive DNA testing and their Down's screening results in the study population with 34 cases(1.98%)with abnormal non-invasive DNA test results being significantly lower than 1325 cases(77.21%)with abnormal Down's screening results;the age group of 26-30 years was the age group with a high detection rate of chromosomal abnormalities;23 cases(1.34%)had abnormal results of both tests,and 380 cases(22.14%)had normal results of both tests.The rate of consistency between Down's screening and non-invasive DNA testing was 23.48%.In the postnatal follow-up,among those with abnormal results of both screening,one case of hyperesthesia syndrome,one case of chromosome 21 abnormality,one case of chromosome 7 with large fragment deletion in the long arm,and one case of amniocentesis without abnormal results(abnormal results of both Down's screening and non-invasive screening)but birth defects in the newborn were found.Conclusions Down's screening has a very important role in the prenatal screening of women in the mid-pregnancy,and non-invasive DNA prenatal screening is more beneficial for the secondary prevention of birth defects.

关 键 词:中孕期 唐氏筛查 无创DNA产前筛查 一致性分析 

分 类 号:R714.5[医药卫生—妇产科学]

 

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