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Non-invasive prenatal diagnosis: progress and potential
  1. Rebecca Daley1,2,
  2. Melissa Hill1,
  3. Lyn S Chitty1,3
  1. 1North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
  2. 2Fetal Medicine Unit, University College London Hospital NHS Foundation Trust, London, UK
  3. 3Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK
  1. Correspondence to Rebecca Daley, North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK; rebecca.daley{at}nhs.net

Abstract

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.

  • Non-Invasive Prenatal Diagnosis (NIPD)
  • Non-Invasive Prenatal Testing (NIPT)
  • Cell-Free Fetal DNA (cffDNA)
  • Genetics
  • Fetal Medicine

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