title: Noninvasive prenatal testing for trisomy 21: challenges for implementation in Australia.
abstract: The term 'Non invasive prenatal testing' is used to describe the rapidly emerging molecular technologies related to cell free DNA assessment that are being applied to prenatal screening for Down syndrome and other chromosomal abnormalities. This technology is now available to Australian women through a number of off-shore laboratories. We review the basis of this method of testing, the literature describing the effectiveness of NIPT in screening for trisomy 21 and the potential methods by which this tool could be incorporated into current screening strategies.
authors.affiliation: Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, Victoria, Australia; Department of Obstetrics and Gynaecology, University of Melbourne, Melbourne, Victoria, Australia.
authors.forename: Lisa
authors.initials: L
authors.lastname: Hui
authors.forename: Jon
authors.initials: J
authors.lastname: Hyett
mesh_terms: D001315:Australia; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000097:blood / Q000175:diagnosis*; D005260:Female; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018566:Pregnancy, High-Risk; D011295:Prenatal Care / Q000379:methods*; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA
keywords: chromosomal abnormality; noninvasive prenatal test; prenatal screening; trisomy 21