{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T20:13:47Z","timestamp":1790021627587,"version":"4.0.1"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001923","name":"DH | NIHR | Health Services Research Programme","doi-asserted-by":"publisher","award":["NIHR127829"],"award-info":[{"award-number":["NIHR127829"]}],"id":[{"id":"10.13039\/501100001923","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Prenatal sequencing tests are being introduced into clinical practice in many developed countries. In part due to its greater ability to detect genetic variation, offering prenatal sequencing can present ethical challenges. Here we review ethical issues arising following the implementation of prenatal sequencing in the English National Health Service (NHS). We analysed semi structured interviews conducted with 48 parents offered prenatal sequencing and 63 health professionals involved in delivering the service to identify the ethical issues raised. Two main themes were identified: (1) Equity of access (including issues around eligibility criteria, laboratory analytical processes, awareness and education of clinicians, fear of litigation, geography, parental travel costs, and access to private healthcare), and (2) Timeliness and its impact on parental decision-making in pregnancy (in the context of the law around termination of pregnancy, decision-making in the absence of prenatal sequencing results, and the \u201cimportance\u201d of prenatal sequencing results). Recognising both the practical and systemic ethical issues that arise out of delivering a national prenatal sequencing service is crucial. Although specific to the English context, many of the issues we identified are applicable to prenatal sequencing services more broadly. Education of health professionals and parents will help to mitigate some of these ethical issues.<\/jats:p>","DOI":"10.1038\/s41431-024-01700-0","type":"journal-article","created":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T07:02:10Z","timestamp":1727938930000},"page":"360-367","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals"],"prefix":"10.1038","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4977-8708","authenticated-orcid":false,"given":"Michelle","family":"Peter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3900-1425","authenticated-orcid":false,"given":"Melissa","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4455-5521","authenticated-orcid":false,"given":"Morgan","family":"Daniel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5204-0069","authenticated-orcid":false,"given":"Hannah","family":"McInnes-Dean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhiannon","family":"Mellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly","family":"Walton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Lafarge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Leeson-Beevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Peet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3837-4764","authenticated-orcid":false,"given":"Dagmar","family":"Tapon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6531-8181","authenticated-orcid":false,"given":"Sarah L.","family":"Wynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyn S.","family":"Chitty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7054-4711","authenticated-orcid":false,"given":"Michael","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,3]]},"reference":[{"key":"1700_CR1","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1002\/pd.5114","volume":"38","author":"R Horn","year":"2018","unstructured":"Horn R, Parker M. Opening Pandora\u2019s box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2018;38:20\u20135.","journal-title":"Prenat Diagn"},{"key":"1700_CR2","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.siny.2017.10.001","volume":"23","author":"A Richardson","year":"2018","unstructured":"Richardson A, Ormond KE. Ethical considerations in prenatal testing: genomic testing and medical uncertainty. Semin Fetal Neonatal Med. 2018;23:1\u20136.","journal-title":"Semin Fetal Neonatal Med"},{"key":"1700_CR3","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1038\/s41436-019-0731-7","volume":"22","author":"KG Monaghan","year":"2020","unstructured":"Monaghan KG, Leach NT, Pekarek D, Prasad P, Rose NC, on behalf of the APP. et al. The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22:675\u201380.","journal-title":"Genet Med"},{"key":"1700_CR4","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1002\/pd.6157","volume":"42","author":"IB Van den Veyver","year":"2022","unstructured":"Van den Veyver IB, Chandler N, Wilkins-Haug LE, Wapner RJ, Chitty LS. International society for prenatal diagnosis updated position statement on the use of genome-wide sequencing for prenatal diagnosis. Prenat Diagn. 2022;42:796\u2013803.","journal-title":"Prenat Diagn"},{"key":"1700_CR5","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.ogc.2017.10.003","volume":"45","author":"AC Jelin","year":"2018","unstructured":"Jelin AC, Vora N. Whole exome sequencing: applications in prenatal genetics. Obstet Gynecol Clin North Am. 2018;45:69\u201381.","journal-title":"Obstet Gynecol Clin North Am"},{"key":"1700_CR6","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1002\/pd.4968","volume":"36","author":"MJ Bayefsky","year":"2016","unstructured":"Bayefsky MJ, Wasserman D, Chen S, White A, Wakim P, Hull SC, et al. Views of American OB\/GYNs on the ethics of prenatal whole-genome sequencing. Prenat Diagn. 2016;36:1250\u20136.","journal-title":"Prenat Diagn"},{"key":"1700_CR7","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/jgc4.1112","volume":"28","author":"CE Brew","year":"2019","unstructured":"Brew CE, Castro BA, Pan V, Hart A, Blumberg B, Wicklund C. Genetics professionals\u2019 attitudes toward prenatal exome sequencing. J Genet Counse. 2019;28:229\u201339.","journal-title":"J Genet Counse"},{"key":"1700_CR8","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1002\/pd.5353","volume":"38","author":"S Harris","year":"2018","unstructured":"Harris S, Gilmore K, Hardisty E, Vora NL, Lyerly AD. Ethical and counseling challenges in prenatal exome sequencing. Prenat Diagn. 2018;38:897\u2013903.","journal-title":"Prenat Diagn"},{"key":"1700_CR9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.05.002","volume":"62","author":"L Ferretti","year":"2019","unstructured":"Ferretti L, Mellis R, Chitty LS. Update on the use of exome sequencing in the diagnosis of fetal abnormalities. Eur J Med. Genet. 2019;62:103663.","journal-title":"Eur J Med. Genet"},{"key":"1700_CR10","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1136\/jme.2006.019992","volume":"34","author":"T Shakespeare","year":"2008","unstructured":"Shakespeare T. Debating disability. J Med. Ethics. 2008;34:11\u20134.","journal-title":"J Med. Ethics"},{"key":"1700_CR11","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1002\/mrdd.10056","volume":"9","author":"E Parens","year":"2003","unstructured":"Parens E, Asch A. Disability rights critique of prenatal genetic testing: reflections and recommendations. Ment Retard Dev Disabil Res. Rev. 2003;9:40\u20137.","journal-title":"Ment Retard Dev Disabil Res. Rev"},{"key":"1700_CR12","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1002\/ajmg.a.37459","volume":"170a","author":"RJ Steinbach","year":"2016","unstructured":"Steinbach RJ, Allyse M, Michie M, Liu EY, Cho MK. \u201cThis lifetime commitment\u201d: public conceptions of disability and noninvasive prenatal genetic screening. Am J Med Genet A. 2016;170a:363\u201374.","journal-title":"Am J Med Genet A"},{"key":"1700_CR13","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1111\/bioe.12124","volume":"29","author":"J Hewison","year":"2015","unstructured":"Hewison J. Psychological aspects of individualized choice and reproductive autonomy in prenatal screening. Bioethics. 2015;29:9\u201318.","journal-title":"Bioethics"},{"key":"1700_CR14","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1111\/bioe.12122","volume":"29","author":"A de Jong","year":"2015","unstructured":"de Jong A, de Wert GMWR. Prenatal screening: an ethical agenda for the near future. Bioethics. 2015;29:46\u201355.","journal-title":"Bioethics"},{"key":"1700_CR15","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1097\/GCO.0b013e3283372352","volume":"22","author":"PA Benn","year":"2010","unstructured":"Benn PA, Chapman AR. Ethical challenges in providing noninvasive prenatal diagnosis. Curr Opin Obstet Gynecol. 2010;22:128\u201334.","journal-title":"Curr Opin Obstet Gynecol"},{"key":"1700_CR16","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.socscimed.2014.02.025","volume":"107","author":"FK Boardman","year":"2014","unstructured":"Boardman FK. The expressivist objection to prenatal testing: the experiences of families living with genetic disease. Soc Sci Med. 2014;107:18\u201325.","journal-title":"Soc Sci Med"},{"key":"1700_CR17","doi-asserted-by":"publisher","first-page":"10","DOI":"10.3310\/nihropenres.13247.2","volume":"2","author":"M Hill","year":"2022","unstructured":"Hill M, Ellard S, Fisher J, Fulop N, Knight M, Kroese M, et al. Optimising exome prenatal sequencing services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]. NIHR Open Res. 2022;2:10.","journal-title":"NIHR Open Res"},{"key":"1700_CR18","doi-asserted-by":"crossref","unstructured":"Peter M, Mellis R, McInnes-Dean H, Daniel M, Walton H, Fisher J, et al. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals\u2019 views and experiences. Front Genet. 2024;15.","DOI":"10.3389\/fgene.2024.1401705"},{"key":"1700_CR19","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1002\/pd.6537","volume":"44","author":"H McInnes-Dean","year":"2024","unstructured":"McInnes-Dean H, Mellis R, Daniel M, Walton H, Baple EL, Bertoli M, et al. Something that helped the whole picture\u2019: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service. Prenat Diagn. 2024;44:465\u201379.","journal-title":"Prenat Diagn"},{"key":"1700_CR20","unstructured":"Guidance document: Rapid Exome Sequencing Service for fetal anomalies testing [Internet]. 2020. Available from: https:\/\/www.norththamesglh.nhs.uk\/wp-content\/uploads\/Guidance-Document-Rapid-Exome-Sequencing-Service-for-Fetal-Anomalies-v3.pdf."},{"key":"1700_CR21","unstructured":"Genomics England PanelApp [Internet]. 2021. Available from: https:\/\/panelapp.Genomicsengland.Co.Uk\/."},{"key":"1700_CR22","unstructured":"Braun VCV. Thematic analysis: A practical guide: SAGE Publications Ltd; 2021."},{"key":"1700_CR23","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1177\/1525822X980100020301","volume":"10","author":"KM MacQueen","year":"1998","unstructured":"MacQueen KM, McLellan E, Kay K, Milstein B. Codebook development for team-based qualitative analysis. CAM J. 1998;10:31\u20136.","journal-title":"CAM J"},{"key":"1700_CR24","doi-asserted-by":"publisher","first-page":"1758","DOI":"10.1111\/j.1475-6773.2006.00684.x","volume":"42","author":"EH Bradley","year":"2007","unstructured":"Bradley EH, Curry LA, Devers KJ. Qualitative data analysis for health services research: developing taxonomy, themes, and theory. Health Serv Res. 2007;42:1758\u201372.","journal-title":"Health Serv Res"},{"key":"1700_CR25","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/uog.26141","volume":"61","author":"B Poljak","year":"2023","unstructured":"Poljak B, Agarwal U, Alfirevic Z, Allen S, Canham N, Higgs J, et al. Prenatal exome sequencing and impact on perinatal outcome: cohort study. Ultrasound Obstet Gynecol. 2023;61:339\u201345.","journal-title":"Ultrasound Obstet Gynecol"},{"key":"1700_CR26","doi-asserted-by":"publisher","first-page":"519","DOI":"10.3390\/biomimetics8070519","volume":"8","author":"R Yousefpour Shahrivar","year":"2023","unstructured":"Yousefpour Shahrivar R, Karami F, Karami E. Enhancing fetal anomaly detection in ultrasonography images: a review of machine learning-based approaches. Biomim (Basel). 2023;8:519.","journal-title":"Biomim (Basel)"},{"key":"1700_CR27","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1002\/pd.6112","volume":"42","author":"AN Talati","year":"2022","unstructured":"Talati AN, Gilmore KL, Hardisty EE, Lyerly AD, Rini C, Vora NL. Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis. Prenat Diagn. 2022;42:775\u201382.","journal-title":"Prenat Diagn"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01700-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01700-0","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01700-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T14:01:51Z","timestamp":1741615311000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41431-024-01700-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,3]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,3]]}},"alternative-id":["1700"],"URL":"https:\/\/doi.org\/10.1038\/s41431-024-01700-0","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,3]]},"assertion":[{"value":"18 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 August 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 September 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"The interviews with health professionals were classified as a Service Evaluation by the Health Research Authority (HRA), thus research ethics committee approval was not required. The service evaluation was registered with Research and Development at Great Ormond Street Hospital for Children NHS Foundation Trust. Approval to conduct parent interviews was given by the HRA and the East of Scotland Research Ethics Service REC 1 (21\/ES\/0073). A sub-set of interviews was conducted by RM as part of her PhD project, with approval from the London Bromley Research Ethics Committee (20\/LO\/0987). The studies were conducted in accordance with the local legislation and institutional requirements, and all participants provided their informed consent to participate.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}