13042例孕妇早期产前筛查的研究分析  

A study of first-trimester screening of 13042 pregnant women

作　　者：杨微微[1] 任晨春[1] 王文靖[1] 梁玥宏[1] 李德明[1] 张海霞[1] 张月香[1] Yang Weiwei;Ren Chen- chun;Wang Wenjing et al(Tianjin Center Hospital of Obstetrics and Gynecology, Tianjin 300100)

机构地区：[1]天津市中心妇产科医院检验科,天津300100

出　　处：《现代妇产科进展》2018年第3期179-181,共3页Progress in Obstetrics and Gynecology

摘　　要：目的:评价孕早期唐氏综合征血清学筛查在产前诊断中的作用,降低染色体异常胎儿出生率。方法:取孕11~13+6周孕妇13042例,时间分辨荧光免疫术检测13042例单胎孕妇外周血妊娠相关蛋白-A(PAPP-A)和游离人绒毛膜促性腺激素β亚基(β-HCG)含量,综合超声测量胎儿颈项透明膜厚度(NT)及孕妇年龄、体质量和孕周,Life-Cycle4.0软件计算胎儿患21三体和18三体的风险率。高风险者进一步行绒毛或羊水细胞染色体核型分析。结果:13042例病例中,唐筛阳性373例(3.00%)。早筛21三体阳性PAPPA平均MoM值为0.98,游离β-HCG平均MoM值为2.218,NT平均MoM值2.56;18三体阳性PAPPA平均MoM值为0.647,游离β-HCG平均MoM值1.847,NT平均MoM值3.07。早期唐筛阳性孕妇中,行绒毛活检或羊膜腔穿刺术染色体核型分析248例(占66.5%),发现染色体异常58例(占23.4%),其中21三体30例,18三体7例,13三体3例,性染色体异常8例,嵌合体7例,多倍体3例。≥35岁和<35岁患者早期筛查的真阳性率分别为14.8%和34.9%。结论:孕早期血清学筛查能有效筛查出染色体异常胎儿,降低了出生缺陷发病率,对于年龄<35岁的孕妇应作为常规筛查。Objective：To evaluate the role of serological screening for first trimester and reduce the birth rate of the chromosomal abnormalities fetus.Methods：Pregnancy associated plasma protein A（ PAPP A） and β-human chorionic gonadotropin（ beta HCG） in peripheral blood of pregnant women were quantitatively analyzed,first-trimester fetal nuchal translucency thickness（ NT） and pregnant women＇s age,body mass and gestational age were also measured.We used Life Cycle4.0 software and all the results above to evaluate the occurrence of trisomy syndrome.The karyotype analysis of villi or amniotic fluid cell were detected for the high-risk patients.Results：373 cases（3.00%） were screen-positive in 13 042 cases.For high risks of trisomy 21 pregnancies,the measured multiple of the median（ MoM） values on average for PAPPA was 0.98,the free beta HCG was 2.218,and NT was 2.56.For high risks of trisomy 18 pregnancies,the MoM values on average for PAPP-A was 0.647,the free beta HCG was 1.847,and NT was 3.07.Chromosome karyotype analysis were detected in 248 patients（ 66.5%） in pregnant women who got the positive results for first trimester screening. 58 cases found abnormal chromosomes（23.4%）.Among them,30 cases were trisomy 21,7 cases were trisomy 18,3 cases were trisomy 13,8 were sexual chromosome abnormality,7 cases were chimera,and 3 cases were multiploid.The true screen-positive rates of age over 35 years and under 35 years were 14.8% and 34.9%.Conclusion：Chromosomal abnormalities fetus could be found by serological screening for first trimester.And it could be used to reduce the incidence of birth defects.They should be routinely screened for pregnant women of age under 35 years.

关 键 词：孕早期筛查 妊娠相关蛋白 游离人绒毛膜促性腺激素 颈项透明膜厚度 染色体核型 

分 类 号：R714.5[医药卫生—妇产科学]