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目的通过对廊坊地区孕妇进行孕中期血清学筛查结果分析,明确孕中期筛查在诊断21-三体综合征(Down’s syndrome)、18-三体综合征(Edward’s syndrome)及开放性神经管缺陷中的作用。方法选择2012年4月至2013年3月在廊坊市妇幼保健中心进行产前筛查46 689例孕妇,孕周15~20+6周,预产年龄15~45岁,平均年龄26.87岁。其中预产年龄>35岁4 432例。抽取孕妇的空腹静脉血3 m L,行甲胎蛋白(AFP)、游离人绒毛膜促性腺激素β亚单位(Free-βHCG)、游离雌三醇(u E3)三联检测,结合孕妇的年龄、孕周、体质量等情况,经Lifecycle软件评估胎儿罹患3种缺陷的风险率。高风险者进一步行无创产前基因检测、有创产前诊断及系统超声筛查。结果有2 171例高风险,高风险率为4.65%。其中21-三体综合征高风险1 957例,高风险率4.19%;18-三体综合征高风险65例,高风险率0.14%;开放性神经管缺陷高风险149例,高风险率0.32%。2 171例筛查高风险孕妇有1 451例选择无创产前基因检测,高风险无创率66.84%;结果有35例提示三体综合征,无创基因检测阳性率2.41%。经产前诊断及系统超声检测,确诊异常胎儿54例。结论产前筛查与诊断对减少染色体疾病及开放性神经管缺陷胎儿的出生具有重要作用,降低了出生缺陷率。
OBJECTIVE: To analyze the results of the second trimester serological screening of pregnant women in Langfang region, and make it clear that screening in the second trimester of Down’s syndrome, Edward’s syndrome and open neural tube defects In the role. Methods From April 2012 to March 2013, 46 689 pregnant women were enrolled in prenatal screening in the Maternal and Child Health Center of Langfang City. The gestational age ranged from 15 to 20 + 6 weeks. The expected age of delivery was 15 to 45 years with a mean age of 26.87 years. Among them, 4 432 cases were expected to be 35 years of age. The fasting venous blood of pregnant women was drawn out to detect the fasting venous blood (AML), free beta-βHCG and uE3 triple detection, and combined with the pregnant women’s age, Gestational age, body weight and other conditions, the Lifecycle software assessment of fetal risk of suffering from three kinds of defects. High-risk people further line non-invasive prenatal genetic testing, invasive prenatal diagnosis and system ultrasound screening. There were 2,171 high-risk and high-risk rates of 4.65%. The high risk of 21-trisomy syndrome was 1 957 cases with a high risk of 4.19%. The high risk of T-trisomy syndrome was 65 cases with a high risk of 0.14%. The high risk of open neural tube defects was 149 with a high risk of 0.32 %. There were 1 451 noninvasive prenatal genetic tests and 66.84% high risk noninvasive tests in 2 171 pregnant women who were at high risk of screening. Results 35 cases showed trisomy, and the positive rate of noninvasive gene testing was 2.41%. Prenatal diagnosis and system ultrasound testing, diagnosis of abnormal fetus in 54 cases. Conclusion Prenatal screening and diagnosis play an important role in reducing the birth of fetuses with chromosomal diseases and open neural tube defects and reducing the birth defect rate.