摘要
目的了解深圳龙华区妊娠中期孕妇产前21-三体综合征、18-三体综合征及神经管畸形高风险率分布情况,并探讨该地区妊娠中期唐氏筛查结果对胎儿染色体异常及不良妊娠结局的影响。方法选取2018年5月~2020年6月在深圳市龙华区人民医院进行产前检查的妊娠中期(孕周14~20+5w)妇女3297例,分别进行血清β-绒毛膜促性腺激素(β-HCG)、甲胎蛋白(AFP)及游离雌三醇(uE3)水平检测,同时结合孕妇年龄、体质量及孕周,统计21-三体综合征、18-三体综合征及神经管畸形的高风险率,并对高风险孕妇进行羊水细胞染色体核型及唐氏筛查不同风险的不良妊娠结局进行分析。结果 3297例妊娠中期孕妇产前唐氏筛查共检出高风险孕妇289名,筛查总阳性率为8.77%,其中21-三体综合征检出率为4.52%,明显高于18-三体综合征的1.30%及神经管畸形的2.94%,3种不同高风险检出率之间差异有统计学意义(P<0.05);21-三体综合征、18-三体综合症及神经管畸形高风险率随着妊娠中期孕妇年龄的增加而升高,不同年龄孕妇组之间差异均有统计学意义(P<0.05);203例孕妇进行了羊水细胞染色体核型分析,其中21-三体综合征异常染色体核型检出率最高为14.29%,明显高于18-三体综合征的1.48%、神经管畸形的2.96%及其他异常染色体核型的1.97%,差异有统计学意义(P<0.01);289例高风险孕妇不良妊娠结局发生率为18.69%,明显高于低风险孕妇的1.16%,差异有统计学意义(P<0.01)。结论唐氏筛查对妊娠中期孕妇的21-三体综合征高、18-三体综合征及神经管缺陷高风险孕妇的诊断有一定预警作用,并对异常染色体核型和不良妊娠结局的预估具有重要的作用。
Objective:To investigate the distribution of high risk rates of prenatal 21-trisomy syndrome,18-trisomy syndrome and neural tube malformation in second-trimester pregnant women in Longhua district,Shenzhen,and to investigate the influence of down’s syndrome screening results on fetal chromosomal abnormalities and adverse pregnancy outcomes in this area.Methods:From May 2018 to June 2020,3297 women in the second trimester(14-20 +5w gestational week)who underwent antenatal examination in Shenzhen Longhua District People’s Hospital were selected,serum β-human chorionic gonadotropin(β-HCG),Alpha-fetoprotein(AFP)and free estriol(uE3)level were detected respectively,at the same time combined with pregnant women age,body mass,and gestational age,Statistical analysis of the high risk rates of trisomy 21,trisomy 18 and neural tube malformations,and the pregnant women at high risk of amniotic fluid cells chromosome karyotype and down syndrome screening different risk of adverse pregnancy outcomes were analyzed.Results:289 high-risk pregnant women were detected by prenatal Down’s screening in 3297 pregnant women in the second trimester of pregnancy,and the total positive rate of screening was 8.77%.The detection rate of trisomy 21 was 4.52%,which was significantly higher than 1.30% of trisomy 18 and 2.94% of neural tube malformation,there were statistically significant differences among the three high-risk detection rates(P<0.05).The high risk rates of trisomy-21 syndrome,trisomy-18 syndrome and neural tube malformation increased with the increase of the age of pregnant women in the second trimester of pregnancy,and the difference between different age groups was statistically significant(P<0.05).The karyotypes of amniotic fluid cells were analyzed in 203 pregnant women,and the highest detection rate of abnormal chromosome karyotypes was 14.29% in trisomy-21 syndrome,which was significantly higher than 1.48% in trisomy-18 syndrome,2.96% in neural tube malformation and 1.97% in other abnormal chromosome karyotypes,th
作者
李振莲
李东演
钟伟传
李冯坚
LI Zhen-lian;LI Dong-yan;ZHONG Wei-chuan;LI Feng-jian(Laboratory of Shenzhen Longhua District People's Hospital,Shenzhen,Guangdong 518109)
出处
《中国优生与遗传杂志》
2020年第11期1314-1317,共4页
Chinese Journal of Birth Health & Heredity
关键词
唐氏筛查
妊娠中期
产前筛查
染色体核型分析
不良妊娠结局
Down syndrome screening
Second trimester
Prenatal screening
Karyotype analysis
Adverse pregnancy outcome
