景宁畲族自治县4241名孕妇产前筛查结果分析

Prenatal screening:an analysis of 4241 results of pregnant women in She nationality autonomous county

目的：掌握景宁畲族自治县产前筛查情况,为加强优生优育,进一步降低出生缺陷发生率提供针对性干预措施。方法：采用分辨荧光法测定血清AFP及β-HCG二联标志物的筛查方法,对产前检查门诊满18周岁至未满35周岁、孕15~19＋6周妇女进行产前筛查并随访,产前筛查高风险者进行羊水染色体诊断。结果：产前筛查4 241人,筛出高风险228例（筛出率5.38%）,行产前诊断141例（发生率66.79%）,经羊水染色体核型分析确诊染色体异常5例（发生率3.55%）,其中21-三体综合征2例,其它染色体异常3例,B超随访发现异常9例;未行产前诊断67例中,发生不良结局3例,其中21-三体综合征1例。结论：孕中期进行产前筛查和产前诊断是防止出生缺陷的有效手段,但仍有局限,需要联合其他筛查方法,提高出生缺陷的筛出率。

Objective To explore the status quo of prenatal screening in She nationality autonomous county, as well as to provide some targeted interventions for strengthening eugenics and further reducing the incidence of birth defects rate. Methods We adopted the method of determining serum AFP and beta HCG dual marker by fluorescence detection to conduct prenatal screening and follow up pregnant women of 15 - 19 ^＋6 weeks aged 18 to 35 years old. High risk pregnant women found in prenatal screening would have chromosome analysis of amniotic fluid. Results Prenatal screening was conducted of 4241 cases, 228 （5.38 % ） of which had high risk. Prenatal diagnosis was performed in 141 cases （ 66.79 % ） , and 5 cases （3.55 % ） were confirmed by chromosome analysis of amniotic fluid, among which 2 cases diagnosed as trisomy 21 syndrome, 3 cases abnormal chromosome. Uitrasonic follow- up found 9 cases of abnormality. Among the 67 cases with non-- prenatal diagnosis, three had adverse outcomes, including one case of trisomy 21 syndrome. Conclusions Prenatal screening and prenatal diagnosis are effective measures to prevent birth defects, but there are still limitations, which need to be combined with other screening methods to improve the screening rate of birth defects.