title: Uses of cell free fetal DNA in maternal circulation.
abstract: For over a decade, researchers have focused their attention on the development of non-invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood. With the possibility of earlier and safer testing, non-invasive prenatal diagnosis has the potential to bring many positive benefits to prenatal diagnosis. Non-invasive prenatal diagnosis for fetal sex determination for women who are carriers of sex-linked conditions is now firmly established in clinical practice. Other non-invasive prenatal diagnosis-based tests are set to follow, as future applications, such as the detection of single-gene disorders and chromosomal abnormalities, are now well within reach. Here, we review recent developments in non-invasive prenatal diagnosis for genetic conditions and chromosomal abnormalities, and provide an overview of research into ethical concerns, social issues and stakeholder view points.
authors.affiliation: Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK. melissa.hill@gosh.nhs.uk
authors.forename: Melissa
authors.initials: M
authors.lastname: Hill
authors.forename: Angela N
authors.initials: AN
authors.lastname: Barrett
authors.forename: Helen
authors.initials: H
authors.lastname: White
authors.forename: Lyn S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D002869:Chromosome Aberrations; D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012732:Sex Determination Analysis
chemical_list: D004247:DNA