河源地区孕中期唐氏综合症血清筛查结果分析  

Analysis of serum screening results of Down's syndrome in the second trimester of pregnancy in Heyuan area

作　　者：刘运华 

机构地区：[1]河源市妇幼保健院检验科,广东河源517000

出　　处：《实验与检验医学》2015年第3期296-299,共4页Experimental and Laboratory Medicine

基　　金：广东省河源市社会发展科技计划项目(编号:2013-040)

摘　　要：目的探索河源地区孕妇唐氏综合症的风险状况,分析孕中期唐氏综合症筛查在预防出生缺陷中的临床价值。方法用时间分辨法检测5297例孕中期（14~20＋6）母体血清的甲胎蛋白（AFP）,游离绒毛膜促性腺激素（Free-βHCG）和游离雌三醇（u E3）浓度,结合孕周、年龄和体重,运用专业的产筛软件进行胎儿风险评估。结果筛查的5297例孕妇中,唐氏综合症高危362例,阳性率为6.83%;神经管缺陷（NTD）高危24例,阳性率为0.45%;18-三体综合症高危23例,阳性率为0.43%;35岁以上者总阳性率高于35岁以下者（P〈0.05）。结论孕中期血清学＂三联法＂（AFP＋Free-βHCG＋u E3）筛查胎儿唐氏综合症是一种无创性手段,普遍开展唐氏综合症筛查可预防出生缺陷,提高出生人口素质。Objective To explore the risk status of pregnant women suffering from Down＇s syndrome in heyuan area, and eval-uate the clinical value of Down＇s syndrome screening in mid pregnancy in prevention of birth defects. Methods The concentra-tions of serum AFP （AFP）, Free human chorionic gonadotropin （Free-beta HCG） and Free estriol （uE3） in 5297 cases of mid preg-nancy woman （14-20＋6weeks） were detected by time-resolved method, and risk assessment of fetuses were done by production screen professional software combined with the gestational age, age and weight. Results Among 5297 cases of pregnant women, 362 cases were at high risk of Down＇s syndrome, 24 cases were at high risk of neural tube defects （NTD） and 23 cases were high risk population for trisomy 18 syndrome, the positive rate of them were 6.83%, 0.45%, and 0.43% respectively. The total positive rate of pregnant women whose age were over 35 years was higher than those below 35 years （P〈0.05）. Conclusions Mid pregnan-cy serological＂triple screening＂（AFP＋Free-beta HCG＋uE3） for fetal Down＇s syndrome is a non-invasive method, and screen-ing for Down＇s syndrome can prevent birth defects and improve the birth population quality.

关 键 词：唐氏综合症 18-三体综合症 神经管缺陷 三联筛查 孕中期 产前筛查 

分 类 号：R596.1[医药卫生—内科学] R446.62[医药卫生—临床医学]