妊娠中期产前筛查及影响因素分析

Analysis on prenatal screening during the second trimester of pregnancy and the influencing factors

目的探讨妊娠中期产前筛查唐氏综合征（DS）、爱德华综合征（ES）、开放性脊柱裂（OSB）3种严重先天性缺陷疾病的临床意义以及与孕妇年龄、体重、孕周的关系,探讨产前筛查在妊娠结局预测中的意义。方法用全自动化学发光分析仪检测3 764例15~21周孕中期妇女血清中甲胎蛋白（AFP）、游离人绒毛膜促性腺激素β亚单位和游离雌三醇（μE3）水平,结合孕妇年龄、孕周、体重等因素,利用风险评估软件计算3种胎儿疾病风险概率,建议高风险者进一步诊断,并对妊娠结局进行追踪随访。结果 3 764例孕中期妇女中筛出高风险孕妇330例,其中DS 282例,高风险率7.49%;ES 15例,高风险率0.40%,OSB 33例,高风险率为0.88%。DS、ES风险值均与年龄相关（P〈0.05）,随着年龄的增加,风险值增大;3种疾病风险值均与体重相关（P〈0.05）,DS风险值随体重增加而增大,OSB则相反,ES与体重相关性规律不明显;DS风险值与孕周呈正相关（P〈0.05）,随着孕周的增加,风险值增大,而OSB与孕周呈负相关（P〈0.05）,随着孕周的增加风险值减小。高风险孕妇进一步检查依从性为63.91%,确诊DS 1例,高度怀疑DS、ES各1例,不良妊娠结局率为3.49%。结论妊娠中期血清学三联筛查结合产前诊断及超声影像学检查可有效降低缺陷儿出生率,其结果准确性受孕妇年龄、孕周、体重等因素影响,筛查过程中准确掌握孕妇的相关信息,有利于降低假阳性率和假阴性率,提高产前筛查的准确性。

Objective To explore the clinical significance of prenatal screening of three serious congenital defect diseases- Down＇s syndrome（ DS）,Edward syndrome（ ES）,and open spina bifida（ OSB） during the second trimester of pregnancy and the relationships with maternal age,body weight,and gestational week,explore the significance of prenatal screening in prediction of pregnancy outcome.Methods The levels of serum fetoprotein（ AFP）, free human chorionic gonadotropin beta subunit（ f- βh CG）,and unconjugated estriol（ μE3） of 3 764 pregnant women（ 15- 21 gestational weeks）were detected by automatic chemiluminescence analyzer; combining with maternal,gestational week,and body weight,risk assessment software was used to calculate the risk probabilities of three kinds of fetal diseases; the high- risk pregnant women were recommended for further diagnosis,the pregnancy outcomes were followed up. Results Among 3 764 pregnant women during the second trimester of pregnancy,330high- risk pregnant women were screened out,including 282 high- risk DS pregnant women（ 7. 49%）,15 high- risk ES pregnant women（ 0. 40%）,33 high- risk OSB pregnant women（ 0. 88%）. The risk values of DS and ES were correlated with age（ P〈0. 05）,which increased with age; the risk values of three diseases were correlated with body weight（ P〈0. 05）,risk value of DS increased with increase of body weight,but risk value of OSB increased with decrease of body weight,the correlation between ES and body weight was insignificant;risk value of DS was positively correlated with gestational week（ P〈0. 05）,the risk value increased with gestational week; risk value of OSB was negatively correlated with gestational week（ P〈0. 05）,the risk value decreased with gestational week. The compliance of further examination of high- risk pregnant women was 63. 91%,one pregnant woman was diagnosed as DS definitely,one pregnant woman suspected of DS and one pregnant woman suspected of ES were found,the incidence rate of adverse pregnancy outcomes was 3. 49%. Conclusion Serological triple screening combined with prenatal diagnosis and ultrasonic examination during the second trimester of pregnancy can effectively reduce the incidence rate of birth defects infants,the accuracy is affected by maternal age,gestational week,and body weight,grasping the related information of pregnant women during screening is beneficial to reducing false positive rate and false negative rate and increasing the accuracy of prenatal screening.