title: Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.
abstract: 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.
authors.affiliation: 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.
authors.forename: Jean
authors.initials: J
authors.lastname: Gekas
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Langlois
authors.affiliation: Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada.
authors.forename: Vardit
authors.initials: V
authors.lastname: Ravitsky
authors.affiliation: Department of Obstetrics and Gynecology, Hospital Sainte-Justine, Montreal, QC, Canada.
authors.forename: François
authors.initials: F
authors.lastname: Audibert
authors.affiliation: Department of Social and Preventive Medicine, Faculty of Medicine, Université Laval, Québec City, QC, Canada.
authors.forename: David Gradus
authors.initials: DG
authors.lastname: van den Berg
authors.affiliation: Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, QC, Canada.
authors.forename: Hazar
authors.initials: H
authors.lastname: Haidar
authors.affiliation: Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada.
authors.forename: François
authors.initials: F
authors.lastname: Rousseau
keywords: Down syndrome; cell-free fetal DNA; informed consent; non-invasive prenatal testing; prenatal diagnosis; reproductive autonomy