Uses of cell free fetal DNA in maternal circulation |
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| Authors: | Hill Melissa Barrett Angela N White Helen Chitty Lyn S |
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| Affiliation: | 1. Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK;2. Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK;3. NE Thames Regional Service Laboratories, Great Ormond Street Hospital for Children, London, UK;4. National Genetics Reference Laboratory (Wessex), Salisbury District Hospital, Salisbury, UK |
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| Abstract: | For over a decade, researchers have focused their attention on the development of non-invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood. With the possibility of earlier and safer testing, non-invasive prenatal diagnosis has the potential to bring many positive benefits to prenatal diagnosis. Non-invasive prenatal diagnosis for fetal sex determination for women who are carriers of sex-linked conditions is now firmly established in clinical practice. Other non-invasive prenatal diagnosis-based tests are set to follow, as future applications, such?as the detection of single-gene disorders and chromosomal abnormalities, are now well within reach. Here, we review recent developments in non-invasive prenatal diagnosis for genetic conditions and chromosomal abnormalities, and provide an overview of research into ethical concerns, social issues and stakeholder view points. |
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