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产前筛查——从血清学筛查到无创产前检测

Chinese Journal of Practical Gynecology and Obstetrics(2020)

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Abstract
产前筛查一般指的是对胎儿常见染色体非整倍体的筛查,即21-三体综合征、18-三体综合征、13-三体综合征,不包括其他染色体非整倍体. 根据产前筛查原理的不同,可将对常见胎儿染色体非整倍体的产前筛查分为3类:(1)基于母血清生化指标的产前筛查,简称母血清学筛查(maternal serum screening,MSS).(2)以胎盘游离DNA(cell-free DNA,cfDNA)作为检测指标的产前筛查方法,即无创产前检测(non-invasive prenatal testing,NIPT).(3)基于超声检查的产前筛查.本文将对前两种产前筛查方法进行阐述.
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