【摘要】 目的了解茂名市产前诊断中心的唐氏综合征产前筛查和产前诊断情况,分析目前产筛存在的问题。方法孕早期筛查采用时间分辨荧光免疫分析法测定血清标志物游离β-人绒毛膜促性腺激素(Freeβ-HCG)和妊娠相关蛋白A(PAPP-A)的浓度,孕中期筛查采用化学发光免疫分析仪测定血清标志物AFP、T-βHCG、μE3的浓度,结合孕妇年龄、体重、孕周等因素,经过配套筛查软件进行风险评估,筛查出高风险对象通过B超和羊水细胞学染色体核型分析确诊,杜绝缺陷胎儿出生。结果9 368例唐氏综合征产前筛查中,查出唐氏综合征高危产妇403例,筛查阳性率为4.30%,经染色体分析确诊唐氏儿6例,18-三体高风险者92例,筛查阳性率为0.98%,经染色体核型分析确诊2例,神经管缺陷高危者62例,筛查阳性率为1.10%,最终确认神经管缺陷胎儿13例。结论唐氏综合征产前筛查和产前诊断可有效降低缺陷胎儿的出生,对优生优育,提高人口素质有重要的意义。更多还原

【Abstract】 Objective To understand prenatal conditions of screening of Down’s syndrome in Maoming City. Methods The concentrations of serum markers, free beta-human chorionic gonadotropin(free β-HCG) and pregnancy associated plasma protein A(PAPP- A) were determined at early pregnancy by time differentiastion fluoroimmunoassay.At second frimester screening the levels of serum marker of AFP, concentration of T-β HCG, μE3 were determined by using chemiluminescence immunoassay analyzer and the results were analyzed in combination with parameters of age, weight, gestational age and other factors of pregnant women for risk assessment aided by supporting screening software. Those at risk were confirmed by chromosomal karyotypes, B ultrasound and amniotic fluid cytology analysis to prevent the birth of defect babies. Results Totally 9 368 pregnant women were screened for Down’s syndrome, 403 women were positive for Down’s syndrome with a positive rate of 4.30%, 6 Down’s syndrome cases were confirmed by the chromosome test, 92 cases were at high risk for 18-trisomy with a positive rate of 0.98%. One Down’s syndrome case was confirmed by karyotype analysis, 62 cases were at high risk for neural tube defects with the positive rate of 1.10% and finally 13 cases were confirmed with neural tube defects.Conclusion Prenatal screening and prenatal diagnosis of Down’s syndrome is effective for reducing the defect birth rate and improving the eugenics and the quality of the population.更多还原