胎儿染色体异常和神经管缺陷的产前筛查与诊断7698例分析

应用时间分辨免疫荧光分析法对7698例妊娠15-20^＋6周的妇女进行甲胎蛋白（AFP）和人绒毛膜促性腺激素游离B亚基（free-β-HCG）检测，筛出染色体异常高风险孕妇483例，其中344例接受羊水或脐血管穿刺产前诊断，发现胎儿染色体异常18例，异常检出率5．2％。筛出神经管缺陷高风险孕妇25例，经B超证实胎儿畸形6例，死胎2例，异常检出率32．0％。筛查高风险组和低风险组的妊娠不良结局分别为25．6％和7．7％，差异有统计学意义（P〈0．05）。提示孕中期母血清筛查是预测胎儿染色体异常和神经管缺陷的有效指标，筛查高风险与母婴不良妊娠结局有相关性。

Prenatal screening and diagnosis of fetal abnormal chromosome and nervous tube defect: report of 7698 cases

This study was to explore the value of maternal serum screen in identification of fetal abnormal chromosome and neural tube defect(NTD). By using time-distinguished fluorescence immunoassay, serum levels of free-β-HCG and alpha fetal protein(AFP)were obtained in 7698 pregnant women at 15～20 +6weeks. and 483 were found at a higher risk of fetal abnormal chromosome. Based on amniotic fluid examination or cord blood testing on 344 high. Risk participants. Fetal abnormal chromosome was found in 18 women with a positive rate of 5. 2%. Twenty-five pregnant women were NTD high-risk, and their positive rate was 0. 3%. B-mode ultrasound identified 6 fetal malformations and 2 fetal deaths ( positive rate of 32. 0%). In high-risk or low-risk group, there were 25. 6%and 7. 7%subjects developed adverse outcome, respectively(P＜0. 05). Our findings suggested that maternal serum screen is an effective prediction factor for fetal abnormal chromosome and NTD.