目的:探讨孕早、中期血清标志物筛查及产前诊断在预防和减少21-三体综合征(Down综合征或唐氏综合征)的临床应用价值,以进一步提高该项工作。方法:采用时间分辨荧光免疫自动分析仪分别于孕早期检测孕妇血清妊娠相关蛋白A(PAPP-A)和游离β绒毛膜促性腺激素(Free-β-h CG)浓度,孕中期检测孕妇血清非结合型雌三醇(u E3)、甲胎蛋白(AFP)、Free-β-h CG浓度,并使用Multicalc产前筛查软件,结合孕妇年龄、体重、孕周、是否有糖尿病、吸烟及血清标志物值来计算胎儿患唐氏综合征的风险概率,对血清标志物筛查高风险以及年龄在35岁以上的孕妇以自愿原则进行介入性产前诊断包括胎儿绒毛、羊水和脐血染色体分析。结果:39 728例孕妇共筛查出21-三体综合征高风险1 537例,占筛查总数的3.87%,其中孕早期筛查157例,孕中期筛查1 380例,单项指标异常4 519例,筛查阳性6 056例,总的筛查阳性率为15.24%;年龄≥35岁的孕妇连续筛查阳性率、异常检出率显著高于年龄<35岁的孕妇,两组差异有统计学意义(P<0.05);筛查高风险的孕妇妊娠异常率显著高于筛查低风险的孕妇,两组差异有统计学意义(P<0.05)。结论:在孕早期进行PAPPA、Free-β-h CG及孕中期进行u E3、AFP、Free-β-h CG的测定对21-三体综合征的预防具有重要的意义,并结合介入性产前诊断,可有效降低21-三体综合征患儿的出生率,值得在临床上推广使用。 Objective: To investigate the clinical value of early pregnancy and mid-term serum markers screening and prenatal diagnosis in the prevention and reduction of 21-trisomy syndrome (Down syndrome or Down’s syndrome) in order to further improve this work. Methods: The levels of serum pregnancy-associated protein A (PAPP-A) and free-β-hCG (Free β-hCG) in pregnant women were detected by using time-resolved fluorescence immunoassay analyzer. Serum non-pregnant women Combined with esomeprazole (uE3), alpha-fetoprotein (AFP), Free-beta-hCG concentration, and using Multicalc prenatal screening software, combined with pregnant women age, weight, gestational age, diabetes, smoking and serum Marker values ​​to calculate the risk of fetal Down Syndrome risk, high risk of screening for serum markers and pregnant women over the age of 35 on a voluntary basis Interventional prenatal diagnosis, including fetal chorionic villus, amniotic fluid and cord blood chromosome analysis . Results: A total of 39728 pregnant women were screened for a total of 1 537 high risk of trisomy 21, accounting for 3.87% of the total number of screening, including 157 in the first trimester, 1 380 in the second trimester, and 4 519 cases, screening positive 6 056 cases, the total screening positive rate was 15.24%; pregnant women ≥35 years of continuous screening positive rate, the abnormal detection rate was significantly higher than the age <35-year-old pregnant women, two groups of differences Statistical significance (P <0.05). The abnormal pregnancy rate in screening high-risk pregnant women was significantly higher than that in screening low-risk pregnant women, the difference was statistically significant (P <0.05). Conclusion: The detection of PAP, Free-β-h CG in the first trimester and the detection of u E3, AFP and Free-β-h CG in the second trimester are of great significance for the prevention of trisomy 21, Pre-diagnosis, can effectively reduce the birth rate of children with trisomy 21, it is worth in the clinical promotion.