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唐氏综合征的产前筛查模式和临床应用 被引量:19

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摘要 唐氏综合征是一种常见的出生缺陷,产前诊断的“金标准”是对侵入性检测获得的胎儿标本行染色体核型分析。目前普遍认为,早孕期绒毛活检和中孕期羊膜腔穿刺术是可接受的方案,手术相关的流产风险估计都是1%。但是,如果每个孕妇都进行侵入性检查,不仅成本高,而且也将丢失许多正常胎儿。按中国每年的出生率为2000万计,因侵入性检查导致的胎儿丢失将高达20万。因此,在进行侵入性检查前有必要进行筛查,以确定高危人群,并计算个性化的风险。
出处 《中华妇产科杂志》 CAS CSCD 北大核心 2010年第6期473-476,共4页 Chinese Journal of Obstetrics and Gynecology
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