2012-2014年南昌地区孕中期产前筛查结果分析  

Analysis on prenatal screening results during the second trimester of pregnancy in Nanchang city from 2012 to 2014

作　　者：游雪云[1] 刘艳秋[1] 吴敏 

机构地区：[1]江西省妇幼保健院产前诊断中心,江西南昌330006 [2]江西省临川区第一人民医院检验科,江西抚州344100

出　　处：《现代预防医学》2016年第4期646-648,共3页Modern Preventive Medicine

摘　　要：目的探讨孕中期孕妇产前筛查对胎儿染色体异常及神经管畸形的临床应用价值,并回顾性分析南昌市唐氏综合征（21-三体）、爱德华综合征（18-三体）及神经管畸形（NTD）等出生缺陷的发生率。方法采用时间分辨荧光免疫技术检测2012-2014年孕15～20＋6周孕妇血清中的生化标志物AFP、u E3及Freeβ-HCG浓度,通过Life Cycle风险评估软件计算胎儿患有染色体疾病,神经管畸形的风险概率。结果 77 392例孕中期筛查孕妇中,21-三体综合征、18-三体综合征及神经管畸形的筛查阳性率分别为4.53%、0.65%及0.52%。35岁以上孕妇21-三体综合征和18-三体综合征阳性率分别为31.39%和2.94%,明显高于35岁以下孕妇的平均阳性率4.65%（3 316/71 339）和0.46%（330/71 339）,差异有统计学意义（χ221-三体=7.506,χ218-三体=6.862,P〈0.05）。高危孕妇参与产前诊断的有1 935例,确诊为21-三体及18-三体分别为51例和13例,经彩超检查发现异常畸形的有10例。结论孕中期三联法产前筛查能有效地预测胎儿染色体异常,并结合羊水细胞染色体核型分析和超声检查能最大程度地避免先天缺陷儿的出生。Objective The aim of this study was to explore the clinical value of prenatal screening during the second trimester of pregnancy towards the fetal chromosomal abnormalities and neural tube defects, and to retrospectively analyze the incidence of birth defects of down＇s syndrome （21-three body）, Edward syndrome （18-three body） and neural tube defects （NTD） in Nanchang city. Methods Adopt time-resolved fluorescence immunoassay technology was used to detect the concentration of biochemical markers AFP, uE3 and free beta HCG in pregnant women＇s serum during 15～20-6 gestational weeks from 2012 to 2014, and the risk probability of fetus with chromosomal disease and neural tube defects was calculated through LifeCycle risk assessment software. Results In 77392 cases of mid screening pregnant women, the positive rates of 21-three body syndrome, 18-three body syndrome and neural tube defects were 4.53%, 0.65% and 0.52%, respectively. The positive rates of 21-three body syndrome and 18-three body syndrome among pregnant women over 35 years old were 31.39% and 2.94%, respectively, which were significantly higher than the average positive rates of 4.65% （3316/71339） and 0.46% （330/71339） of pregnant women below 35 years old. The difference was statistically significant χ21three body=7.506,χ18three body=6.862, P〈0.05）. A total of 1935 women took part in prenatal diagnosis as high-risk pregnant women, 51 women were diagnosed as 21-three body syndrome, 13 women were diagnosed as 18-three body syndrome, and 10 women were diagnosed as abnormal deformity by ultrasonography. Conclusion Triplex process prenatal screening can effectively predict fetal chromosomal abnormalities during pregnancy, and it can prevent congenital defects birth through combination on amniotic fluid cells chromosome karyotype analysis and ultrasound examination at utmost.

关 键 词：产前筛查 三体综合征 神经管畸形 南昌地区 

分 类 号：R173[医药卫生—妇幼卫生保健]