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目的通过分析孕中期母血清标志物甲胎蛋白、绒毛膜促性腺激素和游离雌三醇,研究孕中期母血清学对胎儿出生缺陷筛查的意义以及相关影响因素。方法对10 115例孕中期孕妇采用时间分辨免疫荧光法检测血清中的AFP、β-HCG和u E3浓度,通过评估软件计算21三体、18三体和开放性神经管缺陷风险值,高风险者进一步产前诊断确诊;分析AFP、β-HCG和u E3的浓度在21三体低风险与高风险的变化;分析孕周和年龄对产前筛查的影响。结果筛出21三体高风险329例,确诊6例,其中假阴性1例,其他出生缺陷8例;18三体5例,确诊0例,其他出生缺陷1例;开放性神经管缺陷36例,确诊2例,其他出生缺陷4例。AFP和u E3浓度随孕周增加而逐渐增加,β-HCG浓度随孕周增加而逐渐降低,AFP和u E3在21三体高风险比低风险浓度降低(P<0.05),而β-HCG浓度升高(P<0.01),具有统计学意义;不同孕周对21三体高风险的筛查无明显影响;高龄使21三体阳性率增加。结论 AFP和u E3在21三体高风险比低风险浓度降低,β-HCG浓度升高,孕中期母血清学对21三体及某些严重胎儿缺陷筛查的具有重要意义。
Objective To analyze the significance of maternal serum screening in fetus with screening of birth defects and its influencing factors by analyzing the second trimester maternal serum markers of alpha-fetoprotein, chorionic gonadotropin and free estriol. Methods The serum levels of AFP, β-HCG and u E 3 in 10 115 pregnant women at the second trimester were determined by using time-resolved immunofluorescence. The risk of defects in trisomy 21, trisomy 18 and open neural tube was calculated by evaluation software. The risk of high risk Were further diagnosed by prenatal diagnosis; analysis of AFP, β-HCG and u E3 concentrations in trisomy 21 low risk and high risk changes; analysis of gestational age and age on prenatal screening. Results A total of 329 cases with high risk of trisomy 21 were diagnosed in 6 cases, including 1 case of false negative, 8 cases of other birth defects, 5 cases of 18 trisomy, 0 case of diagnosis and 1 case of other birth defects, 36 cases of open neural tube defects, 2 cases were diagnosed and 4 cases were other birth defects. The concentrations of AFP and uE3 gradually increased with the increase of gestational age. The concentration of β-HCG gradually decreased with the increase of gestational age. The levels of AFP and uE3 in low risk of trisomy 21 were lower (P <0.05) (P <0.01), with statistical significance; different gestational weeks on the 21 trisomy high-risk screening had no significant effect; elderly 21 trisomy positive rate increased. Conclusion AFP and uE3 in the trisomy 21 high risk low risk concentration decreased, β-HCG concentration increased in the second trimester maternal serum maternal serum and some serious fetal defect screening is of great significance.