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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。
Objective To understand the prenatal screening and prenatal diagnosis of Down’s syndrome in Maternal Prenatal Diagnostic Center and to analyze the existing problems in screening. Methods The serum levels of Free β-HCG and PAPP-A in serum during the first trimester screening were determined by time-resolved fluorescence immunoassay. The second trimester screening was performed by chemiluminescence The serum levels of AFP, T-βHCG, and μE3 were measured with an immunoassay analyzer. Risk factors such as age, weight, gestational age and other factors were evaluated by a screening software to screen high-risk subjects by B-ultrasonography and amniotic fluid cytology Chromosome karyotype analysis confirmed, to eliminate defective fetus was born. Results 9368 cases of Down Syndrome in prenatal screening, detection of Down syndrome syndrome at high risk of maternal 403 cases, the screening positive rate was 4.30%, 6 cases of Down’s syndrome confirmed by chromosome analysis, 18-trisomy 92 For example, the positive rate of screening was 0.98%, 2 cases were confirmed by karyotype analysis, 62 cases were at high risk of neural tube defects, the positive rate of screening was 1.10%, finally 13 cases of neural tube defects were identified. Conclusion Prenatal screening and prenatal diagnosis of Down Syndrome can effectively reduce the birth of defective fetus, which is of great significance to prenatal and postnatal care and improving population quality.