母血清、超声及联合筛查对出生缺陷产前诊断的比较性研究

The comparative analysis among maternal serum biomarkers,ultrasound and combined screening on prenatal diagnosis of birth defects

目的探讨母血清生化指标、产前超声及联合筛查对出生缺陷产前诊断的价值。方法回顾性比较研究自2001年1月至2009年12月前行产前检查或遗传咨询的12 221例孕妇,依据其接受产前检查的项目分为血清组、超声组和联合组。筛查后对有介入性产前诊断指征者在超声引导下进行羊水或脐血采集并行染色体分析,确诊是否有染色体异常。结果接受检查的12 221例孕妇中血清组共计6091例,超声组共计5110例,联合组共计1021例。全部孕妇共检出出生缺陷儿937例。其中血清组孕妇中共筛查出高风险孕妇450例,检出染色体异常12例。超声组共检查出胎儿发育异常739例,共检出染色体异常52例。联合组发现胎儿发育异常的孕妇一共有162例,检出染色体异常30例。应用统计学χ2检验进行两两比较,在对染色体异常的检测上,超声的检测率比血清筛查的检测率明显增高(P<0.05),而超声与母血清联合筛查的检测率比单纯超声筛查的检测率高(P<0.05)。结论血清生化指标筛查占用卫生资源较少,方法易掌握,可作为某些染色体病普及性筛查的首选方法;超声筛查为无创性,可重复性高,不受孕周限制,并可检出更多的结构异常;而酌情联合应用血清生化指标筛查和超声筛查,可明显提高染色体异常的检出率,降低筛查假阳性率。

Objective： To investigate the value of maternal serum biomarkers screening,prenatal ultrasonic screening and these two combined screening on prenatal diagnosis of birth defects.Methods： The object of study was 12221 pregnant women who accepted antenatal examination or genetic counseling from January 2001 to December 2009.According to the project of antenatal examination they accepted,they were divided into the serum group,the ultrasound group and the combined group.We collected amniotic fluid or umbilical cord blood and analyzed the chromosome to the one who had indications of prenatal diagnosis,then confirmed if they had chromosome abnormality.Results： There were 6091 cases of serum group in the total 12221 cases of pregnant women;and 5110 cases of ultrasound group,and 1021 cases of combined group.We detected 937 cases of birth defect fetus in all pregnant women.We checked out 450 cases of high risk pregnant women in the serum group,and detected 12 cases of chromosome abnormality in these cases.We checked out 739 cases of fetal abnormalities in the ultrasound group,and detected 52 cases of chromosome abnormality in the 739 cases.We found 162 cases of pregnant women who had fetal abnormalities,and the detected cases of chromosome abnormality were 30.Through statistical chi-square test for comparison between two,we found the detection rate of ultrasound was significantly higher compared to the detection rate of maternal serum screening（P0.05）.While the detection rate of the combination screening of ultrasound and maternal serum index was higher than the detection rate of pure ultrasound screening（P 0.05）.Conclusions： The screening of maternal serum biomarkers can be used as the preferred method of screening of some chromosome disease,because it takes up less health resources,and can be controlled easily.Ultrasound screening is non-invasive and has repeatability.Ultrasound screening has no limit of gestational weeks,and can be detected more structured abnormity.By taking combined screening of the serum biomarker and ultrasound,we can obviously increase the detection rate,reduce the false positive rate of the screening of chromosome abnormality.