唐氏综合征筛查临界风险的产前诊断结果分析及临床意义探讨

Analysis and clinical significance of prenatal diagnosis results in pregnant women with critical value in Down's syndrome screening

目的：探讨孕中期唐氏筛查临界风险的孕妇行介入性产前诊断对检出胎儿异常和降低出生缺陷的作用。方法利用时间分辨荧光免疫分析仪，对孕15～20＋6周孕妇进行血清生化标志物甲胎蛋白（AFP）、游离雌三醇（uE3）和绒毛膜促性腺激素（β-HCG）浓度测定，结合孕妇年龄、孕周、体重、既往妊娠史、有无糖尿病、吸烟等因素，运用LifeCycle风险评估软件计算风险率，对临界风险孕妇在知情同意的情况下行羊水穿刺，进行染色体检查，并追踪其产后情况。结果筛查11062例孕妇，共筛出临界风险孕妇685例，其中257例行羊水穿刺染色体核型分析，彩超畸形筛查和定期随访确认，10例存在染色体异常。结论对孕中期临界风险孕妇进行介入性产前诊断，有利于提高胎儿唐氏综合征的检出率，降低漏诊率，从而有效地降低唐氏儿的出生率。

Objective To explore the effects of interventional prenatal diagnosis for fetal anomaly detection and birth defects reducing in pregnant women with critical value in Down’s syndrome screening. Methods The levels of serum biochemical mark-ers AFP, free estriol （uE3） and human chorionic gonadotropin （beta HCG） were detected by time-resolved fluorescence immunoas-say analyzer in pregnant women （15-20＋6 weeks） . Maternal age, gestational age, weight, pregnancy history, the presence of dia-betes, smoking and other factors were combined to calculate the risk using the LifeCycle risk assessment software. Chromosome examination was performed after amniotic fluid puncture in pregnant women with critical value. Results A total of 685 cases of 11062 pregnant women were screened as critical risk, 257 of whom were performed karyotype analysis and at last 10 cases were confirmed as chromosomal abnormalities. Conclusion The interventional prenatal diagnosis for the pregnant women with critical risk is benefit to diagnose Down＇s syndrome and reduce the rate of missed diagnosis.