{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T10:35:58Z","timestamp":1782902158302,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T00:00:00Z","timestamp":1657324800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["854020002"],"award-info":[{"award-number":["854020002"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Faster and cheaper next generation sequencing technologies have enabled expansion of carrier screening for recessive disorders, potentially facilitating population\u2010based implementation regardless of ancestry or family history. Little is known, however, about the attitudes regarding population\u2010based carrier screening among families with genetic disorders. This study assessed views among parents and patients with a recessive disorder and parents of children with Down syndrome (DS) on expanded carrier screening (ECS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>In total, 85 patients with various recessive disorders, 110 parents of a child with a recessive disorder and 89 parents of a child with DS participated in an online survey in the Netherlands. Severity of recessive disorders was classified as mild\/moderate or severe\/profound.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The majority of the (parents of) patients with a recessive disorder had a positive attitude towards population\u2010based ECS, including screening for their own or their child's disorder. DS parents were significantly less positive towards ECS. Subgroup analyses showed that the severity of the disorder, rather than being a patient or parent, influences the attitudes, beliefs and intention to participate in ECS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings have important implications for future implementation initiatives as they demonstrate the different perspectives from people with experiential knowledge with genetic disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6200","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T07:06:24Z","timestamp":1655967984000},"page":"1201-1210","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Views of patients and parents of children with genetic disorders on population\u2010based expanded carrier screening"],"prefix":"10.1002","volume":"42","author":[{"given":"Anke J.","family":"Woudstra","sequence":"first","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, location Vrije Universiteit Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lieke M.","family":"van den Heuvel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, location Vrije Universiteit Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics University Medical Centre Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsbeth H.","family":"van Vliet\u2010Lachotzki","sequence":"additional","affiliation":[{"name":"Dutch Patient Alliance for Rare and Genetic Diseases (VSOP)  Soest The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4052-7192","authenticated-orcid":false,"given":"Wybo","family":"Dondorp","sequence":"additional","affiliation":[{"name":"Department of Health, Ethics &amp; Society Maastricht University Research Schools CAPHRI and GROW  Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6385-1804","authenticated-orcid":false,"given":"Phillis","family":"Lakeman","sequence":"additional","affiliation":[{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"},{"name":"Department of Human Genetics Amsterdam UMC, location University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7849-0562","authenticated-orcid":false,"given":"Lotte","family":"Haverman","sequence":"additional","affiliation":[{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"},{"name":"Psychosocial Department Amsterdam UMC, location University of Amsterdam Emma Children's Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0960-7154","authenticated-orcid":false,"given":"Irene M.","family":"van Langen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Medical Centre Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3531-0597","authenticated-orcid":false,"given":"Lidewij","family":"Henneman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, location Vrije Universiteit Amsterdam  Amsterdam The Netherlands"},{"name":"Amsterdam Reproduction and Development Research Institute  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,7,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.271"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/aog.0000000000000666"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmaa001"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.12.004"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.43"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.463"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.160"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38031"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpubh.2017.00025"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5109"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010014\u20109694\u20107"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010016\u20100012\u20104"},{"key":"e_1_2_10_14_1","unstructured":"VSOP: pati\u00ebntenkoepel voor zeldzame en genetische aandoeningen.2021. 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