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目的探讨中孕期母血清学标志物甲胎蛋白(AFP)、游离绒毛膜促性腺激素β亚基(Free-βh CG)和游离雌三醇(u E3)进行胎儿常见染色体异常和开放性神经管缺陷(NTD)筛查的临床价值。方法采用时间分辨免疫荧光分析法对荆门地区5468例孕15~20+6周的孕妇进行血清AFP、Free-βh CG和u E3检测,结合孕妇年龄、体重、孕周等因素,采用配套软件进行综合风险评估。结果 5468例孕妇中,共筛出高风险孕妇418例,阳性率为7.64%,其中唐氏综合征和18-三体综合征和开放性神经管缺陷高风险阳性率分别为6.91%、0.29%和0.44%。经产前诊断确诊唐氏综合征5例,18-三体综合征1例,其他染色体异常1例,开放性神经管缺陷4例。结论中孕期母血清学产前筛查是一种简便、经济、无创性的有效检测手段,结合产前诊断,对减少出生缺陷,提高出生人口素质具有重要作用。
Objective To investigate the effects of maternal serum markers AFP, Free-βh CG and uE3 on the common chromosomal abnormality and open neural tube Defects (NTD) screening of clinical value. Methods The serum AFP, Free-βh CG and u E3 were detected in 5468 pregnant women with gestational age 15-20 + 6 weeks in Jingmen area by time-resolved immunofluorescence assay. The age, weight, gestational age and other factors of pregnant women were used to analyze Comprehensive risk assessment. Results Of the 5468 pregnant women, 418 high-risk pregnant women were screened out, the positive rate was 7.64%. The positive rates of Down’s syndrome, 18-trisomy and open neural tube defects were 6.91% and 0.29% And 0.44%. Prenatal diagnosis of Down Syndrome confirmed in 5 cases, 18 cases of trisomy syndrome in 1 case, other chromosomal abnormalities in 1 case, 4 cases of open neural tube defects. Conclusion Prenatal screening of maternal serology in the second trimester is a simple, economical and noninvasive means of detection. Combined with prenatal diagnosis, it plays an important role in reducing birth defects and improving the quality of the born population.