title: Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine.
abstract: Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about maternofetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent post-test management recommendations for those with discordant test results. The reduction in invasive testing has had downstream effects on specialist training and caused many countries to re-examine their national approaches to prenatal screening. Finally, the accumulating datasets of genomic information on pregnant women and their fetuses raise ethical issues regarding consent for future data mining and intellectual property.
authors.affiliation: Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria 3084, Australia; email: lhui@mercy.com.au.|Translational Obstetrics Group, University of Melbourne, Heidelberg, Victoria 3084, Australia.|Public Health Genetics Group, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.
authors.forename: Lisa
authors.initials: L
authors.lastname: Hui
authors.affiliation: Mother Infant Research Institute, Tufts Medical Center, Boston, Massachusetts 02111; email: DianaWBianchi@gmail.com.|Division of Genetics, Department of Pediatrics, Floating Hospital for Children, Boston, Massachusetts 02111.|Tufts University School of Medicine, Boston, Massachusetts 02111.
authors.forename: Diana W
authors.initials: DW
authors.lastname: Bianchi
mesh_terms: D000073888:Cell-Free Nucleic Acids / Q000032:analysis*; D002869:Chromosome Aberrations; D004252:DNA Mutational Analysis; D057225:Data Mining / Q000941:ethics; D005820:Genetic Testing / Q000379:methods*; D023281:Genomics; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D018973:Intellectual Property; D011296:Prenatal Diagnosis / Q000379:methods* / Q000639:trends*; D012922:Social Change
chemical_list: D000073888:Cell-Free Nucleic Acids
keywords: cell-free DNA analysis; copy-number variants (CNVs); noninvasive prenatal screening; pregnancy; sex chromosome aneuploidy