目的分析富阳市近5年的产前筛查与产前诊断情况。方法对23 526例孕15~20+6w孕妇进行血清甲胎蛋白(AFP)和游离绒毛膜促性腺激素(β-hCG)的筛查,对高风险孕妇进行遗传咨询,在知情同意的情况下选择羊水染色体检查,对孕妇分娩结局进行追踪随访。结果产筛23 526例,产筛率85.77%;高风险778例,阳性率3.31%,其中21-三体综合征高风险606例;18-三体综合征高风险63例;神经管缺陷(NTD)高风险109例;染色体高风险孕妇669例,自愿羊水染色体诊断526例,诊断率86.80%,确诊胎儿染色体异常9例,其中唐氏综合征8例、18-三体1例;NTD高风险109例中确诊6例;随访22 853例,随访率97.14%;假阴性率0.38‰。结论妊娠中期产前筛查与产前诊断是防止出生缺陷、提高出生人口素质的有效手段。 Objective To analyze the prenatal screening and prenatal diagnosis in Fuyang city in recent 5 years. Methods Serum AFP and β-hCG were screened in 23 526 pregnant women with 15-20 + 6 w pregnant women. Genetic counseling was conducted on high-risk pregnant women. With informed consent Select amniotic fluid chromosome examination, follow-up of the outcome of pregnant women delivery. Results A total of 526 cases were screened out with a screening rate of 85.77%. The high risk was 778 cases with a positive rate of 3.31%. Among them, there were 606 cases with high risk of trisomy 21, 63 cases with high risk of trisomy 18, NTD) were included in the study. Of the 109 patients with high risk of chromosomal abnormalities, 669 were pregnant women with high risk of chromosomal abnormality. 526 cases were diagnosed by amniotic fluid autonomy, the diagnosis rate was 86.80%. Nine cases of fetal chromosomal abnormalities were diagnosed, including 8 Down’s Syndrome and 1 case of 18- Of the 109 cases, 6 cases were diagnosed as risk, 22 853 cases were followed up, the follow-up rate was 97.14% and the false-negative rate was 0.38 ‰. Conclusion Prenatal screening and prenatal diagnosis during the second trimester are effective measures to prevent birth defects and improve the quality of the born population.