早孕期、中孕期和早中孕期整合母血清产前筛查胎儿常见染色体异常的效率  

Efficiency of integrated maternal serum prenatal screening for common chromosomal abnormalities in fetuses during first,second,and combined screening test of first and second trimester

作　　者：陈益明 张闻 卢莎 连结静 王昊 胡文胜 CHEN Yi-ming;ZHANG Wen;LU Sha;LIAN Jie-jing;WANG Hao;HU Wen-sheng(Department of Prenatal Diagnosis(Screening)Centre,Hangzhou Women's Hospital(Hangzhou Maternity and Child Health Care Hospital),Hangzhou,Zhejiang 310008,China)

机构地区：[1]杭州市妇产科医院(杭州市妇幼保健院)产前诊断(筛查)中心,浙江杭州310008

出　　处：《中国卫生检验杂志》2020年第13期1597-1600,共4页Chinese Journal of Health Laboratory Technology

基　　金：浙江省自然科学基金公益技术研究计划/社会发展(LGF19H040006);杭州市科技计划引导项目(农业与社会发展)(20181228Y13);杭州市卫生科技计划项目(2017A55)。

摘　　要：目的了解早孕期、中孕期以及早中孕期整合3种不同筛查方案,筛查胎儿21三体综合征(DS)、18三体综合征(ES)等常见染色体异常的效率。方法回顾性分析2015年1月-2016年12月于早孕期(9周~13^(+6)周)和中孕期(15周~20^(+6)周)在本院进行早孕期、中孕期和早中孕期整合产前筛查检测的121 400例孕妇资料,并随访妊娠结局及孕妇羊水细胞染色体核型分析结果。结果早孕期、中孕期和早中孕期整合3种方案筛查DS、ES高风险结果比较,差异有统计学意义(χ^2=806.235,P <0.001)。3种方案筛查的灵敏度差异均无统计学意义(P> 0.05)。早孕期、早中孕期整合2种方案筛查胎儿DS、ES和其他染色体异常的结果比较,差异无统计学意义(P> 0.05)。结论早中孕期整合筛查可减少DS、ES高风险数量,本方案优于早孕期、中孕期筛查方案,但对胎儿DS、ES和其他染色体异常确诊病例的检测灵敏度无明显差异。Objective To understand the efficiency of screening common chromosomal abnormalities such as Down's syndrome(DS)and Edward's syndrome(ES)by integrating three different screening schemes in first,second,and combined screening test of first and second trimester.Methods Retrospective analysis was performed on the data of 121400 pregnant women who received integrated prenatal screening tests in our hospital during first trimester(9 w-13+6 w)and second trimester(15 w-20+6 w)from January 2015 to December 2016.Pregnancy outcomes and chromosome karyotype analysis of amniotic fluid cells in pregnant women were followed up.Results There was significant difference among three kinds of screening tests in the results of high risk(χ2=806.235,P<0.001).There was no significant difference among three kinds of screening tests in sensitivity(P>0.05).Compared the results of DS,ES and other chromosomal abnormalities between first trimester and combined screening test,there was no significant difference(P>0.05).Conclusion Integrated screening for first and second trimester can reduce the number of high-risk DS and ES.This scheme is superior to the screening scheme for first and second trimester,however there is no significant difference in the detection of sensitivity for fetal DS,ES and other confirmed cases of chromosomal abnormalities.

关 键 词：妊娠早期 妊娠中期 联合筛查 血清学筛查 产前诊断 唐氏综合征 18三体综合征 染色体异常 

分 类 号：R714.5[医药卫生—妇产科学]