Nature Communications (Feb 2023)
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
- Marie Bernkopf,
- Ummi B. Abdullah,
- Stephen J. Bush,
- Katherine A. Wood,
- Sahar Ghaffari,
- Eleni Giannoulatou,
- Nils Koelling,
- Geoffrey J. Maher,
- Loïc M. Thibaut,
- Jonathan Williams,
- Edward M. Blair,
- Fiona Blanco Kelly,
- Angela Bloss,
- Emma Burkitt-Wright,
- Natalie Canham,
- Alexander T. Deng,
- Abhijit Dixit,
- Jacqueline Eason,
- Frances Elmslie,
- Alice Gardham,
- Eleanor Hay,
- Muriel Holder,
- Tessa Homfray,
- Jane A. Hurst,
- Diana Johnson,
- Wendy D. Jones,
- Usha Kini,
- Emma Kivuva,
- Ajith Kumar,
- Melissa M. Lees,
- Harry G. Leitch,
- Jenny E. V. Morton,
- Andrea H. Németh,
- Shwetha Ramachandrappa,
- Katherine Saunders,
- Deborah J. Shears,
- Lucy Side,
- Miranda Splitt,
- Alison Stewart,
- Helen Stewart,
- Mohnish Suri,
- Penny Clouston,
- Robert W. Davies,
- Andrew O. M. Wilkie,
- Anne Goriely
Affiliations
- Marie Bernkopf
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Ummi B. Abdullah
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Stephen J. Bush
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Katherine A. Wood
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Sahar Ghaffari
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Eleni Giannoulatou
- Victor Chang Cardiac Research Institute
- Nils Koelling
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Geoffrey J. Maher
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Loïc M. Thibaut
- Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney
- Jonathan Williams
- Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust
- Edward M. Blair
- NIHR Oxford Biomedical Research Centre
- Fiona Blanco Kelly
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Angela Bloss
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Emma Burkitt-Wright
- Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust
- Natalie Canham
- Department of Clinical Genetics, Liverpool Women’s NHS Foundation Trust
- Alexander T. Deng
- Clinical Genetics Department, Guy’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust
- Abhijit Dixit
- Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust
- Jacqueline Eason
- Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust
- Frances Elmslie
- South West Thames Regional Genetics Service, St George’s University Hospitals NHS Foundation Trust
- Alice Gardham
- North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital
- Eleanor Hay
- North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust
- Muriel Holder
- Clinical Genetics Department, Guy’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust
- Tessa Homfray
- South West Thames Regional Genetics Service, St George’s University Hospitals NHS Foundation Trust
- Jane A. Hurst
- North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust
- Diana Johnson
- Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust
- Wendy D. Jones
- North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust
- Usha Kini
- NIHR Oxford Biomedical Research Centre
- Emma Kivuva
- Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Royal Devon University Healthcare NHS Foundation Trust
- Ajith Kumar
- North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust
- Melissa M. Lees
- North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust
- Harry G. Leitch
- Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust
- Jenny E. V. Morton
- West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women’s and Children’s Hospitals NHS Foundation Trust
- Andrea H. Németh
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Shwetha Ramachandrappa
- Clinical Genetics Department, Guy’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust
- Katherine Saunders
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Deborah J. Shears
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Lucy Side
- Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital
- Miranda Splitt
- Northern Genetics Service, The Newcastle upon Tyne Hospitals NHS Foundation Trust
- Alison Stewart
- Sheffield Clinical Genetics Service, Sheffield Children’s NHS Foundation Trust
- Helen Stewart
- Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust
- Mohnish Suri
- Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust
- Penny Clouston
- Oxford Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust
- Robert W. Davies
- Department of Statistics, University of Oxford
- Andrew O. M. Wilkie
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- Anne Goriely
- Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford
- DOI
- https://doi.org/10.1038/s41467-023-36606-w
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 11
Abstract
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible.
