title: Non-invasive prenatal testing for Down syndrome.
abstract: Prenatal screening and diagnosis of Down syndrome and other major aneuploidies may be transformed following the identification of cell-free fetal DNA in maternal plasma at the end of the last millennium. Next generation sequencing has enabled the development of tests that accurately predict the presence of fetal trisomies by analysis of cell-free DNA in maternal blood from as early as 10 weeks of gestation. These tests are now widely available in the commercial sector but are yet to be implemented in publicly led health services. In this article we discuss the technical, social, and ethical challenges that these new tests bring.
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.
authors.forename: Philip
authors.initials: P
authors.lastname: Twiss
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.
authors.forename: Melissa
authors.initials: M
authors.lastname: Hill
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Daley
authors.affiliation: NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square, London WC1N 3BH, UK; UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK. Electronic address: l.chitty@ucl.ac.uk.
authors.forename: Lyn S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005333:Fetus; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA
keywords: Cell-free fetal DNA; Down syndrome; Fetal aneuploidy; Non-invasive prenatal testing; Prenatal diagnosis