TY - JOUR T1 - Non-invasive prenatal diagnosis: progress and potential JF - Archives of Disease in Childhood - Fetal and Neonatal Edition JO - Arch Dis Child Fetal Neonatal Ed SP - F426 LP - F430 DO - 10.1136/archdischild-2013-304828 VL - 99 IS - 5 AU - Rebecca Daley AU - Melissa Hill AU - Lyn S Chitty Y1 - 2014/09/01 UR - http://fn.bmj.com/content/99/5/F426.abstract N2 - Non-invasive prenatal diagnosis and testing by analysis of cell-free DNA in the maternal circulation is a rapidly evolving field. Current clinical applications include fetal sex determination, fetal rhesus D determination, the diagnosis of some single gene disorders, and a highly accurate screening test for aneuploidies. In the future it is likely to be used for the diagnosis of an increasing range of monogenic disorders, and may even be used to profile entire fetal genomes. The introduction of these tests into clinical practice brings clear benefits but also poses several ethical, social and service delivery challenges. Here, we discuss the current clinical applications, discuss some of the technical and ethical challenges, and look to what the future might bring as technology continues to evolve. ER -