{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T14:40:19Z","timestamp":1767796819495,"version":"3.49.0"},"reference-count":20,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"unspecified","delay-in-days":4,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2025,11,12]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To analyse demographic trends and decision-making patterns regarding prenatal diagnosis (PND) in couples at risk for hereditary haemoglobinopathies at the Thalassemia and Rare Haematological Disease Centre in Turin over a 40-year period.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Retrospective observational study analysing demographic and clinical data from 1983 to 2023.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Tertiary care genetic service Centre in Orbassano (TO), Northern Italy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Participants<\/jats:title>\n                    <jats:p>Couples seeking genetic counselling and PND for hereditary haemoglobinopathies. Selection criteria included couples at risk of having children affected by \u03b2-thalassaemia major or Sickle Cell Disease (SCD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main outcome measures<\/jats:title>\n                    <jats:p>Primary outcomes included acceptance rates of PND and pregnancy termination (TOP). Variables analysed included couples\u2019 age at first consultation, age at first PND, birthplace, employment status, specific haemoglobinopathy risk and number of pregnancies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The analysis identified three main factors influencing PND and TOP decisions: nationality, type of haemoglobinopathy risk and number of previous pregnancies. Age showed no significant correlation with decision-making patterns. The impact of education level and employment status could not be definitively determined due to unavailable or unfit data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The 40-year analysis of prenatal diagnosis for haemoglobinopathies in Turin shows evolving trends influenced by immigration patterns, improved medical treatments and cultural factors, leading to increased acceptance of affected pregnancies in recent years, particularly after 2015, due to better disease management and comprehensive healthcare support. This comprehensive analysis of our centre\u2019s experience provides valuable insights that can serve as a model for similar institutions worldwide in supporting couples through carrier screening and PND processes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2025-106796","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T06:30:21Z","timestamp":1765175421000},"page":"e106796","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Changes in attitudes towards prenatal diagnosis for haemoglobinopathies: a 40-year retrospective observational study in Northern Italy"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7249-2735","authenticated-orcid":false,"given":"Vincenzo","family":"Voi","sequence":"first","affiliation":[{"name":"Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi","family":"Giordano","sequence":"additional","affiliation":[{"name":"Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Sciannameo","sequence":"additional","affiliation":[{"name":"University of Turin, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Sciarrone","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecological Ultrasound and Prenatal Diagnosis Centre, Sant\u2019Anna Obstetric and Gynecological Hospital, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Sbaiz","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Clinical Pathology, Azienda Ospedaliero Universitaria Citt\u00e0 della Salute e della Scienza di Torino, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Barberis","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Clinical Pathology, Azienda Ospedaliero Universitaria Citt\u00e0 della Salute e della Scienza di Torino, Turin, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Curcio","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena Agata","family":"Irrera","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Fondazione IRCCS Ca\u2019 Granda Ospedale Maggiore Policlinico, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Roetto","sequence":"additional","affiliation":[{"name":"University of Turin Department of Clinical and Biological Sciences, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Piga","sequence":"additional","affiliation":[{"name":"Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela Francesca","family":"Giachino","sequence":"additional","affiliation":[{"name":"University of Turin Department of Clinical and Biological Sciences, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-2225","authenticated-orcid":false,"given":"Giorgia","family":"Mandrile","sequence":"additional","affiliation":[{"name":"Thalassemia Centre, San Luigi Gonzaga University Hospital, Orbassano, Piedmont, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,12,7]]},"reference":[{"key":"2026010703460405000_15.12.e106796.1","doi-asserted-by":"publisher","DOI":"10.1586\/ehm.09.74"},{"key":"2026010703460405000_15.12.e106796.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2006.04.005"},{"key":"2026010703460405000_15.12.e106796.3","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1788","article-title":"Current status of beta-thalassemia and its treatment strategies","volume":"9","author":"Ali","year":"2021","journal-title":"Mol Genet Genomic Med"},{"key":"2026010703460405000_15.12.e106796.4","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2022.10233"},{"key":"2026010703460405000_15.12.e106796.5","unstructured":"Deliberazione della giunta regionale 4 agosto 2009, n. 38-11960. piano socio-sanitario regionale 2007-2010. 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