检验医学与临床2025，Vol.22Issue(19)：2716-2720,5.DOI:10.3969/j.issn.1672-9455.2025.19.023
21-三体综合征患儿产前筛查与产前诊断情况分析
Analysis of prenatal screening and prenatal diagnosis of 21-trisomy syndrome children
摘要
Abstract
Objective To analyze the reasonable prenatal screening and prenatal diagnosis guidance scheme of 21-trisomy syndrome children reported by birth defect cards.Methods The medical history data,prenatal screening and prenatal diagnosis of infants with trisomy 21 birth defects who terminated or delivered in mid-wifed institutions in Beijing from January 1 to December 31,2022 were collected.Results Among the 303 ca-ses,297 cases were prenatally diagnosed with 21-trisomy,3 cases were diagnosed by abortion,1 case was clini-cally diagnosed after ultrasound screening and non-invasive DNA prenatal screening(NIPT)high-risk abor-tion,and 1 case was diagnosed after full-term delivery(1 case refused prenatal diagnosis because of abnormal ultrasound,and 1 case did not receive standardized prenatal screening).The average age of pregnantwomen with 21-trisomy syndrome children was(35.80±4.40)years old,and 62.71％(190/303)of them had ad-vanced maternal age(age ≥35 years old on the expected date of delivery).The age of the first,second,third,and fourth or more pregnancies were compared,and the difference was statistically significant(F=28.81,P＜0.001).The high risk rate of 21-trisomy syndrome children was 78.26％(18/23),the borderline risk rate was 13.04％(3/23)and the low risk rate was 8.70％(2/23).The high risk rate of NIPT was 99.30(141/142),and the low risk rate was 0.70％(1/142).The abnormal rate of ultrasound screening in the second trimester was 61.11％(44/72),which was higher than that in the first trimester[46.85％(134/286)].Nuchal Trans-lucency(NT)thickening was the most common abnormal in ultrasound screening,which reached 56.81％(121/213),accounting for 90.30％(121/134)of the abnormal in the first trimester,followed by bilateral na-sal bone dysplasia and cardiovascular system abnormalities.The top three indications for prenatal diagnosis of 21-trisomy syndrome children were high risk of NIPT,increased NT and advanced age,accounting for 88.89％(264/297).Conclusion The incidence of 21-trisomy syndrome children increases with maternal age,especially with high-risk factors such as NIPT,NT thickening,advanced age,abnormal ultrasound screening,interven-tional prenatal diagnosis is recommended.At the same time,ultrasound screening in the first and second tri-mesters should be standardized.The limitations and risks of missed diagnosis of serological screening and NIPT prenatal screening should be fully informed,and interventional prenatal diagnosis should be selected rea-sonably.关键词
21-三体综合征患儿/颈项透明层厚度/血清学筛查/无创DNA产前筛查/产前诊断Key words
21-trisomy syndrome children/nuchal translucency layer/serological screening/non-in-vasive DNA prenatal screening/prenatal diagnosis分类
医药卫生引用本文复制引用
张彦春,张雯,刘凯波,徐宏燕..21-三体综合征患儿产前筛查与产前诊断情况分析[J].检验医学与临床,2025,22(19):2716-2720,5.基金项目
北京市卫生健康委员会高层次公共卫生技术人才建设项目(2022-2-028) （2022-2-028）
国家重点研发计划项目(2018YFC1002304). （2018YFC1002304）
