Gekas Jean, Langlois Sylvie, Ravitsky Vardit, Audibert François, van den Berg David Gradus, Haidar Hazar, Rousseau François
Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Université Laval, Québec City, QC, Canada; Department of Medical Biology, CHU de Québec, Québec City, QC, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Appl Clin Genet. 2016 Feb 4;9:15-26. doi: 10.2147/TACG.S85361. eCollection 2016.
Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.
基于基因组学的游离DNA无创产前筛查（cfDNA筛查）被提出来以减少当前胎儿非整倍体产前诊断中侵入性检查的数量。我们在此回顾cfDNA筛查的临床和伦理问题。迄今为止，尚不清楚cfDNA筛查将如何影响临床产前诊断的效能，以及它如何能够融入实际生活。尽管支持这种快速转变的基于循证的独立研究数据有限，但对用户的直接营销可能推动了cfDNA筛查早日进入临床实践。在其大规模应用之前，有必要解决最重要的伦理、法律和社会问题。它的引入可能会加剧当前忽视孕妇生殖自主权的趋势。
