论文部分内容阅读
目的产前筛查结合羊水细胞染色体或脐血细胞染色体检测,进行以21-三体综合征为主的疾病检查,探求枣庄地区产前筛查风险率分布的线性特征。方法利用全自动时间分辨免疫荧光分析系统,对枣庄地区38 000例妊娠14-20+6w孕妇的血清标志物AFP、F-β-h CG、u E3进行测定,结合年龄、孕周、体重、既往妊娠史、有无糖尿病等指标,计算21-三体综合征、18-三体综合征和神经管缺陷疾病风险率。结果在38 000例筛查的孕妇中,高风险(风险值≥1/270)2679例,临界风险(风险值≥1/600)825例,高风险率为8.9%,临界风险率2.2%,其中峄城区的高风险率及临界风险率较其它区县偏高。同时发现,孕次多、年龄大、学历低、无固定工作等因素导致产前筛查高风险率与临界风险率升高。经产前诊断证实,胎儿染色体异常核型42例(19例21-三体综合征、7例18-三体综合征、2例13-三体综合征、3例平衡易位、3例臂间倒位、8例性染色体异常)。结论孕中期进行产前筛查非常必要,对预防和减少出生缺陷有重要作用,同时发现枣庄地区妇女的孕龄、居住环境、工作种类、生活习惯等因素与产前筛查风险率密切相关。
OBJECTIVE: Prenatal screening combined with amniotic fluid cell chromosome or umbilical cord blood cell chromosome detection, 21 - trisomy syndrome-based disease check to explore the linear characteristics of prenatal screening risk distribution in Zaozhuang area. Methods Using automatic time-resolved immunofluorescence analysis system, the serum markers AFP, F-β-h CG, u E3 of 38 000 pregnant women with gestational age 14-20 + 6 w in Zaozhuang area were measured. The age, gestational age, body weight, Past pregnancy history, with or without diabetes and other indicators to calculate the 21-trisomy syndrome, trisomy 18 and neural tube defects disease risk. Results Of the 38 000 pregnant women who were screened, 2679 were high-risk (≥1 / 270) with 825 critical risk (≥1 / 600) with a high risk of 8.9% and a critical risk of 2.2% Among them, the high risk rate and critical risk rate in Xiangcheng District are higher than those in other districts and counties. Also found that multiple pregnancies, older, lower education, non-fixed work and other factors lead to high risk of prenatal screening and critical risk rate increased. Prenatal diagnosis confirmed that the fetal chromosomal abnormal karyotype in 42 cases (19 cases of 21 trisomy, 7 cases of trisomy 8, 2 cases of trisomy 13, 3 cases of balanced translocation, 3 cases of arm Between the inversion, 8 cases of chromosomal abnormalities). Conclusions It is necessary to conduct prenatal screening in the second trimester, which plays an important role in preventing and reducing birth defects. It is also found that the factors such as gestational age, living environment, types of work and living habits in Zaozhuang area are closely related to the risk of prenatal screening.