Non-invasive prenatal diagnosis: progress and potential.
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.
North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Fetal Medicine Unit, University College London Hospital NHS Foundation Trust, London, UK.
Rebecca
R
Daley
North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Melissa
M
Hill
North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
Lyn S
LS
Chitty
D002474:Cell-Free System; D004247:DNA / Q000097:blood / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000639:trends*; D012732:Sex Determination Analysis / Q000379:methods
D004247:DNA
Cell-Free Fetal DNA (cffDNA); Fetal Medicine; Genetics; Non-Invasive Prenatal Diagnosis (NIPD); Non-Invasive Prenatal Testing (NIPT)