{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T02:51:56Z","timestamp":1794019916080,"version":"4.8.0"},"reference-count":41,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Oxford Biomedical Research","award":["219476\/Z\/19\/Z"],"award-info":[{"award-number":["219476\/Z\/19\/Z"]}]},{"name":"Oxford Biomedical Research","award":["BRC 593413"],"award-info":[{"award-number":["BRC 593413"]}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203132\/Z\/16\/Z"],"award-info":[{"award-number":["203132\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Wellcome Centre for Ethics & Humanities"},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,3,10]]},"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Diagnosis of a child with a genetic condition leads to parents asking whether there is a risk the condition could occur again with future pregnancies. If the cause is identified as an apparent de novo mutation (DNM), couples are currently given a generic, population average, recurrence risk of ~1%\u20132%, depending on the condition. Although DNMs usually arise as one-off events, they can also originate through the process of mosaicism in either parent; in this instance, the DNM is present in multiple germ cells and the actual recurrence risk could theoretically be as high as 50%.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Our qualitative interview study examined the views and reflections on current practice provided by UK practitioners working in clinical genetics (n=20) regarding the potential impact of PREcision Genetic Counselling And REproduction (PREGCARE)\u2014a new preconception personalised recurrence risk assessment strategy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Those interviewed regarded PREGCARE as a very useful addition to risk management, especially for cases where it revised the risk downwards or clarified that a couple\u2019s personalised recurrence risk meets National Health Service thresholds for non-invasive prenatal testing, otherwise inaccessible based on the generic DNM recurrence risk.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Participants said it could release some couples requiring reassurance from undergoing unnecessary invasive testing in future pregnancies. However, they regarded mosaicism and PREGCARE as complex concepts to communicate, requiring further training and additional appointment time for pre-test genetic counselling to prepare couples for all the possible outcomes of a personalised risk assessment, including potentially identifying the parental origin of the DNM, and to ensure informed consent.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2023-109183","type":"journal-article","created":{"date-parts":[[2023,3,19]],"date-time":"2023-03-19T03:49:15Z","timestamp":1679197755000},"page":"925-931","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":16,"title":["Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners"],"prefix":"10.1136","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1432-2516","authenticated-orcid":false,"given":"Alison C","family":"Kay","sequence":"first","affiliation":[{"name":"MRC-Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK"},{"name":"NIHR Oxford Biomedical Research Centre, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Wells","sequence":"additional","affiliation":[{"name":"MRC-Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK"},{"name":"NIHR Oxford Biomedical Research Centre, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Hallowell","sequence":"additional","affiliation":[{"name":"The Ethox Centre and Wellcome Centre for Ethics and Humanities, Nuffield Department of Population Health, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9229-7216","authenticated-orcid":false,"given":"Anne","family":"Goriely","sequence":"additional","affiliation":[{"name":"MRC-Weatherall Institute of Molecular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK"},{"name":"NIHR Oxford Biomedical Research Centre, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"2025101713532094000_60.9.925.1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"2025101713532094000_60.9.925.2","doi-asserted-by":"crossref","unstructured":"Bernkopf M , Abdullah UB , Bush SJ , et al . 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