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目的:了解缙云县21-三体综合征、18-三体综合征、神经管畸形的筛查状况,最大限度地降低出生缺陷发生率。方法:采用时间分辨荧光免疫法(TRFIA)对8 612例孕15~19+6周孕妇空腹抽取静脉血2ml,测定甲胎蛋白(AFP)和游离β-HCG水平,再经试剂配套软件进行发病风险评价,结果:8 612例孕妇中筛查出高风险孕妇282例,阳性率为3.27%,其中21-三体综合征高风险209人,18-三体综合征高风险16人,神经管畸形高风险57人,高风险孕妇经知情同意,自愿选择行产前诊断。经产前诊断确诊为21-三体综合征2人,其他染色体病2人,脑脊膜膨出3人。结论:孕中期产前筛查对降低21-三体综合征、18-三体综合征及神经管畸形儿的出生有着重要意义。
OBJECTIVE: To understand the screening status of 21-trisomy syndrome, 18-trisomy syndrome and neural tube defects in Jinyun County and to minimize the incidence of birth defects. Methods: A total of 8 612 pregnant women with 15-19 + 6 weeks of pregnancy were subjected to fasting venous blood 2 ml by time-resolved fluorescence immunoassay (TRFIA) to determine the levels of AFP and free β-HCG. Results: Eighty-two pregnant women with high risk were screened out for 282 cases of pregnant women with a positive rate of 3.27%. Among them, 209 were high risk of trisomy 21, 16 were high risk of trisomy 18, High risk deformity of 57 people, high-risk pregnant women with informed consent, voluntarily choose prenatal diagnosis. Prenatal diagnosis of 21-trisomy syndrome diagnosed 2 people, 2 other chromosomal diseases, 3 meningeal bulging. Conclusion: The prenatal screening during the second trimester is of great importance in reducing the incidence of trisomy 21, trisomy 18 and neural tube defects.