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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 biochemical markers of maternal serum, prenatal ultrasound and combined screening in prenatal diagnosis of birth defects. Methods A retrospective comparative study of 12,221 pregnant women who had been on prenatal or genetic counseling between January 2001 and December 2009 was divided into serogroups, ultrasound groups, and combined groups according to their prenatal examination. Screening for indications of interventional prenatal diagnosis of amniotic fluid or umbilical cord blood collected under the guidance of chromosome analysis to determine whether there is chromosomal abnormalities. Results A total of 6091 serum samples were obtained from 12 221 pregnant women, 5110 in the ultrasound group and 1021 in the combined group. All pregnant women were detected in 937 cases of child birth defects. Serum group of pregnant women screened 450 high-risk pregnant women, detected 12 cases of chromosomal abnormalities. Ultrasound group detected a total of 739 cases of fetal dysplasia, chromosomal abnormalities were detected in 52 cases. The combined group found a total of 162 pregnant women with abnormal fetal development, 30 cases of chromosomal abnormalities were detected. The results of sonographic detection showed that the detection rate of ultrasound was significantly higher than that of serum screening (P <0.05), while the detection rate of ultrasound and maternal serum screening was significantly higher than that of pure The detection rate of ultrasound screening was high (P <0.05). Conclusion Serum biochemical indicators of screening occupy less health resources, methods easy to grasp, as some of the preferred screening method for chromosomal screening; ultrasound screening for noninvasive, high reproducibility, not limited by the gestational age, and can be detected More structural abnormalities; and, as appropriate, combined application of serum biochemical screening and ultrasound screening, can significantly increase the detection rate of chromosomal abnormalities and reduce the false positive rate of screening.