1000例孕妇孕中期唐氏筛查检测分析

Screening analysis on pregnant women with Down’s syndrome (Report of 1 000 cases)

目的探讨孕中期唐氏筛查检测的临床意义。方法应用时间分辨免疫荧光法对1 000例孕14～21周妊娠妇女进行血清甲胎蛋白和游离β绒毛膜促性腺激素水平检测,将被测的孕妇血清标记物的数值结合孕妇的年龄、体重、孕周、种族、既往病史等因素输入到筛查软件中进行综合分析,得出妊娠唐氏筛查结果。结果 1 000例孕妇中,唐氏综合征筛查高风险22例,占筛查总数的2.2%,唐氏筛查阳性病例行羊水穿刺术,发现21-三体综合征1例,占阳性筛查病例的4.55%;18-三体综合征4例,占筛查总数的0.4%;神经管缺损高风险2例,占筛查总数的0.2%;预产期年龄>35岁高风险12例,占筛查总数的1.2%。结论孕中期进行血清标记物甲胎蛋白和游离β绒毛膜促性腺激素水平检测是预测异常胎儿和不良妊娠结局的有效指标,是降低出生缺陷率的有效手段,同时结合羊水或胎血、B超等其他产前筛查技术可提高产前筛查效果。

Objective To investigate the clinical value of second trimester Down＇s syndrome screening. Methods The level of serum AFP and free-β-hCG of 1 000 pregnant women（14-21 weeks）were detected by time-distinguished fluorescence immunoassay. The value of serum markers combined with the maternal age, body weight, gestational age, race, past medical history and other factors were taken into account to conduct a comprehensive analysis by the screening software. Results In 1 000 cases of pregnant women, 22 cases were considered as high risk of Down＇s syndrome, thereby the positive rate was 2.2%. All the positive cases of Down＇s syndrome screening received amniocentesis, 1 case of which was Down＇s syndrome, accounting for 4.55%; 4 cases were 18-trisomy, accounting for 0.4% of all the cases; 2 cases were of high risk of neural tube defect, accounting for 0.2% of all the cases; 12 cases of the pregnant women aged 〉35 year-old were of high risk, accounting for 1.2% of all the cases. Conclusion Maternal serum AFP and free-β-hCG level in second trimester are effective indicators for predicting abnormal fetal and adverse pregnancy outcomes. It＇s an effective way to reduce the rate of congenital defect. Combining the detection of maternal serum AFP and free-β-HCG level with amniotic fluid or umbilical cord blood detection and B-ultrasonic examination may improve the effective rate of prenatal screening. Therefore, in order to give a good prenatal care and improve the quality of newborn babies it is necessary to popularize prenatal detection and make more pregnant women realize the importance of prenatal screening.