孕中期筛查唐氏综合征863例分析

Screening analysis of Down syndrome in 863 cases on middle period pregnancy

目的 探讨孕中期筛查胎儿唐氏综合征的有效方法.方法 采用时间分辨荧光免疫法,检测孕中期孕妇血清中甲胎蛋白和游离β人绒毛膜促性腺激素（Free-β-HCG）的浓度,以甲胎蛋白检测值≥1.275中位倍数（MOM）胎儿唐氏综合征高风险,Free-β-HCG检测值≤0.87MOM为胎儿神经管裂高风险.结果 863例孕中期孕妇中,筛查结果为低危者809例,占93.7％;高危者54例,占6.3％.＜35岁组812例中高危40例,占4.9％,包括唐氏综合征高危36例（90.0％）和神经管裂高危4例（10.0％）.≥35岁组51例中高危14例,占27.5％,包括唐氏综合征高危12例（85.7％）和神经管裂高危2例（14.3％）.2组孕妇筛查高危检出率差异有统计学意义（P＜0.05）,但唐氏综合征和神经管裂构成比差异无统计学意义（P＞0.05）. 54例高危孕妇均行羊水穿刺染色体检查,其中1例染色体检查阳性,阳性率1.2％,2例神经管裂高危孕妇经过B型超声检查发现1例无脑儿及1例腹裂,其余高危孕妇均未见异常;低危孕妇随访至妊娠结束,新生儿未见异常.结论 联合检测及分析中期孕妇血清中甲胎蛋白及Free-β-HCG水平,对防止唐氏儿出生、降低出生缺陷具有重要作用.

Objective To study the data analysis of screening analysis of Down syndrome in 863 cases on middle period pregnancy.Methods Time-resolved fluorescence immunoassay was used to test the pregnant women serum alpha-fatal protein and predict the womb medium armor of gonadotropins concentrations.Combining with pregnant women＇s age,weight,other factors and supporting software,fetal risk rate of Down syndrome were analyzed.Results Of 863 cases in the middle of the pregnant women,809 cases（93.7％） were low-risk pregnant; The high risk pregnant women was 54 cases （6.3％）.There were 812 cases whose age were less than 35 years old,and high-risk number was 40 cases （4.9％）,including 36 cases （90.0 ％） Down syndrome high-risk and 4 cases （10.0％） neural tube crack high-risk.The ≥35 years old of the pregnant women were 51 cases,and the high-risk number was 14 cases（27.5％）,including 12 cases （85.7％） Down syndrome high-risk and 2 cases （14.3％） neural tube crack high-risk.Two groups of pregnant women screening high-risk percentage was statistically significant differences（P ＜ 0.05）.Of 54 cases of high risk pregnant women,1 chromosome positive,and the positive rate was 1.2 ％,2 cases of neural tube cracked by B ultrasonic examination were found that 1 case was anencephalus and 1 case was the abdominal crack,and the rest did not see at unusual; the low-risk pregnant women were followed to pregnancy end,and did not see the exception.Conclusion The serum alpha-fatal protein and chorionic gonadotropin level of middle pregnant women play a key role in preventing the Down syndrome and decreasing the rate of birth defects.