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目的了解北京市孕妇外周血胎儿游离DNA筛查情况。方法采用描述性统计学方法分析2016年北京市6家产前诊断中心孕妇外周血胎儿游离DNA筛查及诊断情况。结果 2016年北京市6家产前诊断机构外周血胎儿游离DNA检测例数共15 699例,21-三体筛查检测符合率为93.22%,18-三体检测符合率为39.13%,其他染色检测符合率为25.37%;其中筛查适用人群比例为23.85%;慎用人群筛查比例为76.09%,不适用人群筛查比例为2.42%;追访发现1例21-三体和6例性染染色体异常假阴性病例。结论孕妇外周血胎儿游离DNA筛查已成为唐氏综合征筛查的重要手段之一,在目前临床应用的环境下,应提高产科医师对其认识,严格掌握筛查指征,重视检测前后遗传咨询,提高筛查质量。
Objective To understand fetus free DNA screening in pregnant women in Beijing. Methods Descriptive statistics were used to analyze fetus free DNA screening and diagnosis of pregnant women in 6 prenatal diagnosis centers in Beijing in 2016. Results A total of 15 699 cases of fetal DNA were detected in peripheral blood of 6 prenatal diagnosis institutions in Beijing in 2016. The coincidence rate of 21-trisomy screening test was 93.22% and that of 18-trisomy test was 39.13%. Other staining The detection coincidence rate was 25.37%. Among them, 23.85% of the population was screened, 76.09% of the population was cautious, 2.42% of the population unsuitable for screening, and 21 cases of 21- trisomy and 6 cases of Chromosome abnormalities false negative cases. Conclusion Fetal free DNA screening in pregnant women has become one of the important methods for Down’s syndrome screening. Under the current clinical application environment, obstetricians should improve their knowledge, strictly grasp the screening indications, Consult and improve the quality of screening.