摘要
目的 分析某地区孕妇无创DNA产前检测(NIPT)现状,为合理产前诊断提供依据。方法 对2021年8月—2022年9月接受无创DNA产前检测的533名孕妇进行回顾性分析。结果 孕妇无创DNA产前检测结果异常检出率为2.63%(14/533),14例中,9例接受了电话随访和羊水穿刺,4例确诊异常:21-三体综合征2例、16号染色体异常1例、性染色体异常1例,确诊率44.44%(4/9)。174例(32.64%)参与者在预产期年龄超过35岁。妊娠中期孕妇选择无创DNA产前筛查的主要原因是高龄和唐氏筛查结果异常,分别占32.64%(174例)和32.46%(173例),自主申请仅占14.07%(75例)。无创DNA产前筛查电话随访配合率64.73%(345/533),其中低风险者中, 5.20%(27例)拒绝随访,低于结果异常者中拒绝随访的14.29%(2例),但差异无统计学意义(P>0.05)。结论 高龄产妇和异常产前筛查结果是该地区无创DNA产前筛查的主要驱动因素。然而,自愿申请率较低,需要提高人们对无创DNA检测及羊水穿刺在预防出生缺陷方面重要性的认识。
Objective To evaluate the prevalence and outcomes of non-invasive DNA prenatal testing among pregnant women in a specific region of Henan Province, providing insights to inform rational prenatal diagnosis strategies. Methods We conducted a retrospective analysis of 533 pregnant women who received non-invasive DNA prenatal testing from August 2021 to September2022. Results The abnormal detection rate was 2.63%(14 out of 533). Of the 14 cases, 9 received telephone follow-up and amniotic fluid puncture, confirming abnormalities in 4 cases: 2 with trisomy 21, 1 with abnormal chromosome 16, and 1 with an abnormal sex chromosome, yielding a confirmation rate of 44.44%(4 out of 9).174(32.64%) participants were over 35 years of age at their ex pected delivery period. The primary reason for pregnant women in their mid-trimester of pregnancy opting for non-invasive DNA prenatal screening was their advanced age and abnormal Down′s test results, accounting for 32.64%(174 cases) and 32.46%(173 cases), respectively. Voluntary applications constituted only 14.07%(75 cases). The overall successful follow-up rate of noninvasive DNA prenatal screening was 64.73%(345 out of 533). Among low-risk patients, 5.20%(27 cases) refused to follow up,which was lower than 14.29%(2 cases) among those with abnormal results, but the difference was not statistically significant(P>0.05).Conclusions Advanced maternal age and abnormal prenatal screening results are the main drivers for non-invasive DNA prenatal screening uptake in the region. However, the voluntary application rate is low, suggesting a need to enhance awareness about the important of non-invasive DNA testing and amniocentesis in preventing birth defects among the general pregnant population.
作者
李晶晶
DAVID Lubasi Nalisa
孙宗立
LI Jingjing;DA VID Lubasi Nalisa;SUN Zongli(Clinical Medical College,Henan University of Science and Technology/Endocrine and Metabolic Disease Central Laboratory,the First Afiliated Hospital,Henan University of Science and Technology,Luoyang,Henan 471003,China;Endocrine and Metabolic Disease Centre,the First Affiliated Hospital,Henan University of Science and Technology/Henan Provincial Medical Key Laboratory for Hereditary Rare Diseases)
出处
《现代疾病预防控制》
2024年第8期613-616,625,共5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)。
关键词
孕妇
无创DNA产前筛查
现状调查
Pregnant women
Non-invasive DNA prenatal screening
Investigation of current situation
