南京地区9453例孕妇唐氏综合征产前筛查结果分析

目的探讨孕中期双联法在产前筛查唐氏综合征中的价值。方法采用时间分辨免疫荧光技术检测9453名15w-20＋6w孕妇血清中AFP和f-βHCG的浓度,使用Multicalc软件评估风险。建议唐氏综合征或爱德华综合征高风险孕妇行胎儿羊水/脐带血染色体检查,神经管开放性缺损高风险者接受高分辨度超声检查,并对高风险妊娠跟踪随访至胎儿出生后。结果共筛查出高风险343例,其中经产前诊断确诊唐氏综合征2例、爱德华综合征3例、其他染色体异常1例。通过随访发现其他异常4例。结论使用孕中期母血清AFP/f-βHCG双联法筛查出唐氏综合征等高风险妊娠进而行产前诊断是减少患儿出生的有效方法。

Results of 9453 cases of prenatal screening for Down syndrome

Objective： To evaluate the efficiency of the second trimester maternal serum marker screening for Down syndrome. Methods ： Maternal serum AFP, f - βHCG of 9453 pregnant women was detected by time - resolved flourimmunoassay, and the risk was estimated by Multiealc Soft. Women with high risk were counseled and offered fetal chromosome karyotype analysis or ultrasonic. High - risk pregnancies were followed up until the birth. Results ： There were 113 cases of 343 high - risk pregnancies accepted fetal chromosome karyotype analysis, detecting 2 cases Down syndrome, 3 cases Edwards syndrome and one case other chromosomal abnormalities. Furthermore, 4 cases of abnormalities were found in following. Conclusion ： The second trimester maternal serum marker screening followed by fetal chromosome karyotype analysis is an effective method for decreasing birth defect.