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目的评价母血清标志物甲胎蛋白(AFP)和游离绒毛膜促性腺激素(Free-β HCG)在孕中期进行唐氏综合征/神经管缺陷(NTD)产前筛查的应用价值和作用。方法用时间分辨免疫荧光(DELFIA)双标记抗体对孕妇血清AFP和Free-β HCG进行检测,并结合孕妇年龄、孕周、体重、生育史等因素,采用Perkin Elmer公司配套产前筛查分析软件2T-Risk(2T)估算风险概率。结果在20 784例孕中期妇女中,唐氏综合征、18-三体综合征和神经管缺陷高危筛查阳性率分别为4.0%、0.8%和1.6%。经细胞学核型分析25例确诊为染色体异常,另外29例经四维彩超检查证实为神经管缺陷(NTD)。结论孕中期母血清二联(AFP,Free-βHCG)是较可靠的无创性的产前筛查方法,对减少唐氏儿和神经管畸形的发生率,提高出生人口素质,有极大的帮助,但应提高实验室操作质量和风险评估软件的质量,尽量减少假阴性的发生率,减少或杜绝漏筛的发生。
Objective To evaluate the value and role of maternal serum markers of AFP and Free-β HCG in prenatal screening of Down’s syndrome / neural tube defects (NTD) in the second trimester. Methods The serum AFP and Free-β HCG of pregnant women were detected by time-resolved immunofluorescence (DELFIA) double-labeled antibody. Combined with the age, gestational age, body weight and reproductive history of pregnant women, Perkin Elmer’s prenatal screening analysis software 2T-Risk (2T) Estimate the probability of risk. Results Among 20 784 pregnant women, the positive rates of Down’s syndrome, 18-trisomy and high-risk neural tube defects were 4.0%, 0.8% and 1.6% respectively. Cytological karyotype analysis of 25 cases diagnosed as chromosomal abnormalities, and the other 29 cases were confirmed by four-dimensional ultrasound examination of the neural tube defects (NTD). Conclusion The second trimester maternal serum duplex (AFP, Free-βHCG) is a reliable and noninvasive prenatal screening method. It is of great help to reduce the incidence of Down’s syndrome and neural tube defects and improve the quality of birth population , But should improve the quality of laboratory operations and the quality of risk assessment software to minimize the incidence of false negatives and reduce or eliminate the occurrence of missed screening.