{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:10:53Z","timestamp":1793319053931,"version":"4.5.0"},"reference-count":58,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"European Society of Human Reproduction and Embryology and European Society of Human Genetics funds"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"Abstract<\/jats:title>\n \n STUDY QUESTION<\/jats:title>\n What is the current practice and views on (expanded) carrier screening ((E)CS) among healthcare professionals in medically assisted reproductive (MAR) practices in Europe?<\/jats:p>\n <\/jats:sec>\n \n SUMMARY ANSWER<\/jats:title>\n The findings show a limited support for ECS with less than half of the respondents affiliated to centres offering ECS, and substantial variation in practice between centres in Europe.<\/jats:p>\n <\/jats:sec>\n \n WHAT IS KNOWN ALREADY<\/jats:title>\n The availability of next-generation sequencing, which enables testing for large groups of genes simultaneously, has facilitated the introduction and expansion of ECS strategies, currently offered particularly in the private sector in the context of assisted reproduction.<\/jats:p>\n <\/jats:sec>\n \n STUDY DESIGN, SIZE, DURATION<\/jats:title>\n A cross-sectional survey evaluating practice and current views among professionals working in MAR practice in different European countries was designed using the online SurveyMonkey tool. The web-based questionnaire included questions on general information regarding the current practice of (E)CS in MAR and questions on what is offered, to whom the test is offered, and how it is offered. It consisted mostly of multiple-choice questions with comment boxes, but also included open questions on the respondents\u2019 attitudes\/concerns relevant to (E)CS practice, and room to upload requested files (e.g. guidelines and gene panels). In total, 338 responses were collected from 8 February 2022 to 11 April 2022.<\/jats:p>\n <\/jats:sec>\n \n PARTICIPANTS\/MATERIALS, SETTING, METHODS<\/jats:title>\n The online survey was launched with an invitation email from the ESHRE central office (n\u2009=\u20094889 emails delivered) and the European Society of Human Genetics (ESHG) central office (n\u2009=\u20091790 emails delivered) sent to the ESHRE and ESHG members, and by social media posts. The survey was addressed to European MAR centres or gamete banks and to centres located in non-European countries participating in the European IVF-monitoring Consortium. Two reminder emails were sent. After exclusion of 39 incomplete responses received (e.g. only background information), 299 respondents from 40 different countries were included for analyses.<\/jats:p>\n <\/jats:sec>\n \n MAIN RESULTS AND THE ROLE OF CHANCE<\/jats:title>\n Overall, 42.5% (127\/299) of respondents were affiliated to centres offering ECS. The perceived responsibility to enable prospective parents to make informed reproductive decisions and preventing suffering\/burden for parents were the main reasons to offer ECS. A single ECS panel is offered by nearly 45% (39\/87 received answers) of the centres offering ECS, 25.3% (22\/87) of those centres offer a selection of ECS panels, and 29.9% (26\/87) offer whole exome sequencing and a large in silico panel. Different ranges of panel sizes and conditions were included in the ECS panel(s) offered. Most of the respondents (81.8%; 72\/88 received answers) indicated that the panels they offer are universal and target the entire population. Pathogenic variants (89.7%; 70\/78 received answers), and to a lesser extent, likely pathogenic variants (64.1%%; 50\/78 received answers), were included in the ECS report for individuals and couples undergoing MAR with their own gametes. According to 87.9% (80\/91 received answers) of the respondents, patients have to pay to undergo an ECS test. Most respondents (76.2%; 61\/80 received answers) reported that counselling is provided before and after the ECS test. Preimplantation genetic testing, the use of donor gametes, and prenatal diagnostic testing were the three main reproductive options discussed with identified carrier couples. The main reason, according to the respondents, for not offering ECS in their centre, was the lack of professional recommendations supporting ECS (52.5%; 73\/139 received answers) and the high cost for couples or reimbursement not being available (49.6%; 69\/139). The challenges and moral dilemmas encountered by the respondents revolved mainly around the content of the offer, including the variants classification and the heterogeneity of the panels, the counselling, and the cost of the test.<\/jats:p>\n <\/jats:sec>\n \n LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n Although the total number of respondents was acceptable, the completion rate of the survey was suboptimal. In addition, the heterogeneity of answers to open-ended questions and the ambiguity of some of the answers, along with incomplete responses, posed a challenge in interpreting survey results. It is also plausible that some questions were not easily understood by the respondents. For this reason, response and non-response bias are acknowledged as further limitations of the survey.<\/jats:p>\n <\/jats:sec>\n \n WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n The results of this survey could aid in identifying potential challenges or areas for improvement in the current practice of ECS in the MAR field and contribute to the discussion on how to address them. The results underline the need to stimulate a more knowledge-based debate on the complexity and the pros and cons of a possible implementation of ECS in MAR.<\/jats:p>\n <\/jats:sec>\n \n STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n All costs relating to the development process were covered from European Society of Human Reproduction and Embryology and European Society of Human Genetics funds. There was no external funding of the development process or manuscript production. A.C. is full-time employee of Juno Genetics. L.H. declared receiving a research grant during the past 36\u2009months from the Netherlands Organisation for Health Research and Development. She has also participated in a Health Council report of the Netherlands on preconception carrier screening and collaborated with the VSOP Dutch Genetic Alliance (patient umbrella organization on rare and genetic disorders). L.H. and C.v.E. are affiliated with Amsterdam University Medical Centre, a hospital that offers ECS in a non-commercial setting. R.V. received honoraria for presentations from Merck Academy and is unpaid board member of the executive committee of the Spanish Fertility Society. The other authors had nothing to disclose.<\/jats:p>\n <\/jats:sec>\n \n TRIAL REGISTRATION NUMBER<\/jats:title>\n N\/A.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/humrep\/deae131","type":"journal-article","created":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T13:50:12Z","timestamp":1718373012000},"page":"1844-1855","source":"Crossref","is-referenced-by-count":11,"title":["An ESHG\u2013ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction"],"prefix":"10.1093","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0109-323X","authenticated-orcid":false,"given":"Antonio","family":"Capalbo","sequence":"first","affiliation":[{"name":"Department of Reproductive Genetics, Juno Genetics , Rome, Italy"},{"name":"Unit of Medical Genetics, Centre for Advanced Studies and Technology (CAST), \u201cG. d\u2019Annunzio\u201d University of Chieti-Pescara , Chieti, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"de Wert","sequence":"additional","affiliation":[{"name":"Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University , Maastricht, The Netherlands"},{"name":"Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, Maastricht University , Maastricht, The Netherlands"},{"name":"GROW School for Oncology and Reproduction, Maastricht University , Maastricht, 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 and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Location Vrije Universiteit Amsterdam , Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Kakourou","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens, \u201cAgia Sophia\u201d Children\u2019s Hospital , Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5302-4768","authenticated-orcid":false,"given":"Saria","family":"Mcheik","sequence":"additional","affiliation":[{"name":"ESHRE Central Office , Strombeek-Bever, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana , Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"van El","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Amsterdam Public Health Research Institute, Amsterdam UMC, Location Vrije Universiteit Amsterdam , Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0846-0365","authenticated-orcid":false,"given":"Rita","family":"Vassena","sequence":"additional","affiliation":[{"name":"Fecundis , Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8046-6799","authenticated-orcid":false,"given":"Nathalie","family":"Vermeulen","sequence":"additional","affiliation":[{"name":"ESHRE Central Office , Strombeek-Bever, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5088-3003","authenticated-orcid":false,"given":"St\u00e9phane","family":"Viville","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology, Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg , Strasbourg, France"},{"name":"Department of Functional Genomics and Cancer, CNRS UMR 7104-INSERM U1258 Illkrich-Graffenstaden France"},{"name":"Laboratory of Genetic Diagnostic, Genetics of Infertility Unit (UF3472), Strasbourg University Hospital , Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Guy\u2019s and St Thomas NHS Foundation Trust , London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,6,14]]},"reference":[{"key":"2024080105570963800_deae131-B17","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1097\/AOG.0000000000001948","article-title":"Committee Opinion No. 691 Summary: Carrier Screening for Genetic Conditions","volume":"129","author":"American College of Obstetricians and Gynecologists","year":"2017","journal-title":"Obstet Gynecol"},{"key":"2024080105570963800_deae131-B1","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/s41576-019-0134-2","article-title":"Carrier screening for recessive disorders","volume":"20","author":"Antonarakis","year":"2019","journal-title":"Nat Rev Genet"},{"key":"2024080105570963800_deae131-B2","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/pd.5900","article-title":"Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples","volume":"41","author":"Arjunan","year":"2021","journal-title":"Prenat Diagn"},{"key":"2024080105570963800_deae131-B3","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1002\/humu.24033","article-title":"Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions","volume":"41","author":"Balzotti","year":"2020","journal-title":"Hum Mutat"},{"key":"2024080105570963800_deae131-B4","doi-asserted-by":"crossref","first-page":"2569","DOI":"10.1038\/s41436-019-0525-y","article-title":"Sequencing as a first-line methodology for cystic fibrosis carrier screening","volume":"21","author":"Beauchamp","year":"2019","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B5","doi-asserted-by":"crossref","first-page":"65ra4","DOI":"10.1126\/scitranslmed.3001756","article-title":"Carrier testing for severe childhood recessive diseases by next-generation sequencing","volume":"3","author":"Bell","year":"2011","journal-title":"Sci Transl Med"},{"key":"2024080105570963800_deae131-B6","doi-asserted-by":"crossref","first-page":"100943","DOI":"10.1016\/j.gim.2023.100943","article-title":"Implementing preconception expanded carrier screening in a universal healthcare system: a model-based cost-effectiveness analysis","volume":"25","author":"Busnelli","year":"2023","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B7","doi-asserted-by":"crossref","first-page":"305","DOI":"10.3109\/03630269.2014.938163","article-title":"Thalassemias and hemoglobinopathies in Turkey","volume":"38","author":"Canatan","year":"2014","journal-title":"Hemoglobin"},{"key":"2024080105570963800_deae131-B8","first-page":"e2021410","article-title":"Immigration and screening programs for hemoglobinopathies in Italy, Spain and Turkey","volume":"92","author":"Canatan","year":"2021","journal-title":"Acta Bio-Med"},{"key":"2024080105570963800_deae131-B9","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1080\/14737159.2020.1690456","article-title":"How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature","volume":"19","author":"Cannon","year":"2019","journal-title":"Expert Rev Mol Diagn"},{"issue":"Suppl 2","key":"2024080105570963800_deae131-B10","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF03165098","article-title":"Carrier screening and genetic counselling in beta-thalassemia","volume":"76","author":"Cao","year":"2002","journal-title":"Int J Hematol"},{"key":"2024080105570963800_deae131-B11","doi-asserted-by":"crossref","first-page":"2050","DOI":"10.1093\/humrep\/deab087","article-title":"Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population","volume":"36","author":"Capalbo","year":"2021","journal-title":"Hum Reprod"},{"key":"2024080105570963800_deae131-B12","doi-asserted-by":"crossref","first-page":"e1008409","DOI":"10.1371\/journal.pgen.1008409","article-title":"Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data from 14,125 exomes","volume":"15","author":"Capalbo","year":"2019","journal-title":"PLoS Genet"},{"key":"2024080105570963800_deae131-B13","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1093\/humrep\/det091","article-title":"Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals","volume":"28","author":"Cho","year":"2013","journal-title":"Hum Reprod"},{"key":"2024080105570963800_deae131-B14","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1038\/gim.2017.222","article-title":"A systematic analysis of online marketing materials used by providers of expanded carrier screening","volume":"20","author":"Chokoshvili","year":"2018","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B15","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/pd.5109","article-title":"Expanded carrier screening for monogenic disorders: where are we now?","volume":"38","author":"Chokoshvili","year":"2018","journal-title":"Prenat Diagn"},{"key":"2024080105570963800_deae131-B16","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.bpobgyn.2017.02.006","article-title":"Growing complexity of (expanded) carrier screening: direct-to-consumer, physician-mediated, and clinic-based offers","volume":"44","author":"Chokoshvili","year":"2017","journal-title":"Best Pract Res Clin Obstet Gynaecol"},{"key":"2024080105570963800_deae131-B18","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1038\/ejhg.2010.90","article-title":"Carrier screening for beta-thalassaemia: a review of international practice","volume":"18","author":"Cousens","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B19","doi-asserted-by":"crossref","first-page":"hoab014","DOI":"10.1093\/hropen\/hoab014","article-title":"The ethics of preconception expanded carrier screening in patients seeking assisted reproduction","volume":"2021","author":"de Wert","year":"2021","journal-title":"Hum Reprod Open"},{"key":"2024080105570963800_deae131-B20","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1038\/s41431-022-01091-0","article-title":"Recommendations for reporting results of diagnostic genomic testing","volume":"30","author":"Deans","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B21","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/pd.5611","article-title":"International perspectives on the implementation of reproductive carrier screening","volume":"40","author":"Delatycki","year":"2020","journal-title":"Prenat Diagn"},{"key":"2024080105570963800_deae131-B22","first-page":"294","article-title":"Beyond the \u201cJewish panel\u201d: the importance of offering expanded carrier screening to the Ashkenazi Jewish population","volume":"1","author":"Dolitsky","year":"2020","journal-title":"F S Rep"},{"key":"2024080105570963800_deae131-B23","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1093\/humrep\/deu111","article-title":"ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues","volume":"29","author":"Dondorp","year":"2014","journal-title":"Hum Reprod"},{"key":"2024080105570963800_deae131-B24","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1097\/AOG.0000000000000666","article-title":"Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine","volume":"125","author":"Edwards","year":"2015","journal-title":"Obstet Gynecol"},{"key":"2024080105570963800_deae131-B25","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1038\/gim.2016.8","article-title":"Expanded carrier screening in an infertile population: how often is clinical decision making affected?","volume":"18","author":"Franasiak","year":"2016","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B26","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/s41436-019-0676-x","article-title":"Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants","volume":"22","author":"Fridman","year":"2020","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B27","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1002\/pd.6033","article-title":"Counseling for personal health implications identified during reproductive genetic carrier screening","volume":"41","author":"Gbur","year":"2021","journal-title":"Prenat Diagn"},{"key":"2024080105570963800_deae131-B28","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/gim.2013.47","article-title":"ACMG position statement on prenatal\/preconception expanded carrier screening","volume":"15","author":"Grody","year":"2013","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B29","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1038\/s41436-019-0472-7","article-title":"Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels","volume":"21","author":"Guo","year":"2019","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B30","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1097\/GIM.0b013e318217477f","article-title":"Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report","volume":"13","author":"Hamamy","year":"2011","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B31","doi-asserted-by":"crossref","first-page":"2675","DOI":"10.1001\/jama.2016.17401","article-title":"Prenatal carrier screening","volume":"316","author":"Haque","year":"2016","journal-title":"Jama"},{"key":"2024080105570963800_deae131-B32","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1038\/ejhg.2015.271","article-title":"Responsible implementation of expanded carrier screening","volume":"24","author":"Henneman","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B33","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1186\/s12913-017-2083-9","article-title":"Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape","volume":"17","author":"Holtkamp","year":"2017","journal-title":"BMC Health Serv Res"},{"key":"2024080105570963800_deae131-B34","volume-title":"Increasing Options, Informing Choice: A Report on Preconception Genetic Testing and Screening","author":"Human Genetics Commission","year":"2011"},{"issue":"Suppl 3","key":"2024080105570963800_deae131-B35","doi-asserted-by":"crossref","first-page":"S192","DOI":"10.1007\/PL00014401","article-title":"Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model","volume":"159","author":"Kaback","year":"2000","journal-title":"Eur J Pediatr"},{"key":"2024080105570963800_deae131-B36","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/s41431-020-0685-x","article-title":"Gene selection for the Australian Reproductive Genetic Carrier Screening Project (\u201cMackenzie\u2019s Mission\u201d)","volume":"29","author":"Kirk","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B37","doi-asserted-by":"crossref","first-page":"103857","DOI":"10.1016\/j.rbmo.2024.103857","article-title":"Reproductive healthcare providers\u2019 perceptions regarding their involvement in offering expanded carrier screening in fertility clinics: a qualitative study","volume":"49","author":"Klein","year":"2024","journal-title":"Reprod Biomed Online"},{"key":"2024080105570963800_deae131-B38","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/s41436-018-0273-4","article-title":"The evolving landscape of expanded carrier screening: challenges and opportunities","volume":"21","author":"Kraft","year":"2019","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B39","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/gim.2012.114","article-title":"An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals","volume":"15","author":"Lazarin","year":"2013","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B40","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/gim.2012.157","article-title":"Implementing genomic medicine in the clinic: the future is here","volume":"15","author":"Manolio","year":"2013","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B41","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1016\/j.ajog.2005.02.052","article-title":"Cost-effectiveness analysis of prenatal population-based fragile X carrier screening","volume":"192","author":"Musci","year":"2005","journal-title":"Am J Obstet Gynecol"},{"key":"2024080105570963800_deae131-B42","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.jcf.2012.02.007","article-title":"Cost-effectiveness of carrier screening for cystic fibrosis in Australia","volume":"11","author":"Norman","year":"2012","journal-title":"J Cyst Fibros"},{"key":"2024080105570963800_deae131-B43","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ejogrb.2018.10.042","article-title":"A review of the reproductive consequences of consanguinity","volume":"232","author":"Oniya","year":"2019","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"2024080105570963800_deae131-B44","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1038\/s41431-022-01274-9","article-title":"Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review","volume":"31","author":"Pasquier","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B45","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1093\/humrep\/deab067","article-title":"The use of expanded carrier screening of gamete donors","volume":"36","author":"Payne","year":"2021","journal-title":"Hum Reprod"},{"key":"2024080105570963800_deae131-B46","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1093\/humrep\/deaa088","article-title":"Expanded carrier screening should not be mandatory for gamete donors","volume":"35","author":"Pennings","year":"2020","journal-title":"Hum Reprod"},{"key":"2024080105570963800_deae131-B47","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1016\/j.rbmo.2021.06.025","article-title":"Attitudes of sperm donors towards offspring, identity release and extended genetic screening","volume":"43","author":"Pennings","year":"2021","journal-title":"Reprod Biomed Online"},{"key":"2024080105570963800_deae131-B48","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1002\/jgc4.1566","article-title":"Expanded carrier screening in the United States: a systematic evidence review exploring client and provider experiences","volume":"31","author":"Ramdaney","year":"2022","journal-title":"J Genet Couns"},{"key":"2024080105570963800_deae131-B49","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s12687-019-00443-6","article-title":"Expanded universal carrier screening and its implementation within a publicly funded healthcare service","volume":"11","author":"Rowe","year":"2020","journal-title":"J Community Genet"},{"key":"2024080105570963800_deae131-B50","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1038\/s41436-021-01116-x","article-title":"Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice","volume":"23","author":"Sallevelt","year":"2021","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B51","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1007\/s10815-021-02084-6","article-title":"Expanded carrier screening for recessively inherited disorders: economic burden and factors in decision-making when one individual in a couple is identified as a carrier","volume":"38","author":"Shapiro","year":"2021","journal-title":"J Assist Reprod Genet"},{"key":"2024080105570963800_deae131-B52","doi-asserted-by":"crossref","first-page":"865384","DOI":"10.3389\/fgene.2022.865384","article-title":"Barriers and facilitators for population genetic screening in healthy populations: a systematic review","volume":"13","author":"Shen","year":"2022","journal-title":"Front Genet"},{"key":"2024080105570963800_deae131-B53","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1007\/s00439-019-02080-y","article-title":"Expanded carrier screening: counseling and considerations","volume":"139","author":"Sparks","year":"2020","journal-title":"Hum Genet"},{"key":"2024080105570963800_deae131-B54","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1038\/s41431-021-00923-9","article-title":"Couples\u2019 experiences with expanded carrier screening: evaluation of a university hospital screening offer","volume":"29","author":"van Dijke","year":"2021","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B55","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ejhg.2013.46","article-title":"Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics","volume":"21","author":"van El","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B56","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1038\/s41431-022-01267-8","article-title":"Challenges for the implementation of next generation sequencing-based expanded carrier screening: lessons learned from the ciliopathies","volume":"31","author":"Vintschger","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"2024080105570963800_deae131-B57","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41436-020-0807-4","article-title":"Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach","volume":"22","author":"Westemeyer","year":"2020","journal-title":"Genet Med"},{"key":"2024080105570963800_deae131-B58","doi-asserted-by":"crossref","first-page":"hoac022","DOI":"10.1093\/hropen\/hoac022","article-title":"ART in Europe, 2018: results generated from European registries by ESHRE","volume":"2022","author":"Wyns","year":"2022","journal-title":"Hum Reprod Open"}],"container-title":["Human Reproduction"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/humrep\/article-pdf\/39\/8\/1844\/58673481\/deae131.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/humrep\/article-pdf\/39\/8\/1844\/58673481\/deae131.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T08:32:32Z","timestamp":1722501152000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/humrep\/article\/39\/8\/1844\/7693179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,14]]},"references-count":58,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,6,14]]},"published-print":{"date-parts":[[2024,8,1]]}},"URL":"https:\/\/doi.org\/10.1093\/humrep\/deae131","relation":{},"ISSN":["0268-1161","1460-2350"],"issn-type":[{"value":"0268-1161","type":"print"},{"value":"1460-2350","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,8]]},"published":{"date-parts":[[2024,6,14]]}}}