论文部分内容阅读
目的探讨孕中期双联法产前筛查和产前诊断在预防出生缺陷的价值。方法对18 780例孕妇在孕15-20周采用时间分辨荧光免疫分析法检测孕妇血中AFP和Free-βHCG浓度,结合孕妇年龄、孕周、体重等因素,通过风险评优软件进行风险评估。对唐氏综合征(DS)、18-三体综合征等高风险的孕妇在知情自愿的情况下,再进一步进行羊水细胞染色体分析,对神经管缺陷(NTD)高风险者行超声波检查确诊。结果 18 780例孕妇中,筛查出唐氏综合征高风险共476例,18-三体综合征高风险98例,其中297例进行羊水细胞染色体检查,共查出唐氏综合征6例,18-三体综合征1例,其他染色体异常8例。神经管缺陷高风险138例。通过B超确诊为神经管缺陷12例。结论孕中期产前筛查结合产前诊断,是减少先天性缺陷儿出生的有效方法。
Objective To explore the value of prenatal screening and prenatal diagnosis during the second trimester in the prevention of birth defects. Methods A total of 18 780 pregnant women were tested for the levels of AFP and Free-βHCG in pregnant women by time-resolved fluorescence immunoassay at 15-20 weeks of gestation. Risk assessment was carried out by risk assessment software based on the age, gestational age, weight and other factors. For pregnant women with high risk of Down Syndrome (DS), 18-trisomy syndrome, and so on, the chromosome of amniotic fluid cells was further analyzed with the knowledge of voluntarism and confirmed by ultrasonography in patients with high risk of neural tube defects (NTD). Results A total of 18 780 pregnant women were screened for a total of 476 high-risk Down’s syndrome patients and 98 high-risk trisomy syndromes, of which 297 were examined by amniotic fluid cytology. Down syndrome was detected in 6 patients, 1 case of 18-trisomy syndrome, 8 cases of other chromosomal abnormalities. High risk of neural tube defects in 138 cases. B-diagnosed by neural tube defects in 12 cases. Conclusion The prenatal screening combined with prenatal diagnosis during the second trimester is an effective method to reduce the birth of congenital defects.