{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T01:55:55Z","timestamp":1780624555857,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,15]],"date-time":"2022-12-15T00:00:00Z","timestamp":1671062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>European and Australian guidelines for cystic fibrosis (CF) reproductive carrier screening recommend testing a small number of high frequency CF causing variants, rather than comprehensive <jats:italic>CFTR<\/jats:italic> sequencing. The study objective was to determine variant detection rates of commercially available targeted reproductive carrier screening tests in Australia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Next\u2010generation DNA sequencing of the <jats:italic>CFTR<\/jats:italic> gene was performed on 2552 individuals from a whole population sample to identify CF causing variants. The variant detection rates of two commercially available Australian reproductive carrier screening tests, which target 50 or 175 CF causing variants, in this population were calculated. The ethnicity of individuals was determined using principal component analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Variant detection rates of the tests for 50 and 175 CF causing variants were 88.2% and 90.8%, respectively. No CF causing variants in individuals of East Asian ethnicity (<jats:italic>n<\/jats:italic>\u00a0=\u00a03) were detected by either test, while &gt;86.6% (<jats:italic>n<\/jats:italic>\u00a0=\u00a069) of CF causing variants in Europeans would be identified by either test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Reproductive carrier screening tests for a targeted set of high frequency CF variants are unable to detect approximately 10% of CF variants in a multiethnic Australian population, and individuals of East Asian ethnicity are disproportionally affected by this test limitation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6285","type":"journal-article","created":{"date-parts":[[2022,12,9]],"date-time":"2022-12-09T13:41:18Z","timestamp":1670593278000},"page":"109-116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia"],"prefix":"10.1002","volume":"43","author":[{"given":"Bennett O. V.","family":"Shum","sequence":"first","affiliation":[{"name":"Preventive Health Division Genepath  Sydney New South Wales Australia"},{"name":"EMBL Australia Node in Single Molecule Science School of Biomedical Sciences University of NSW  New South Wales Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Letitia M. F.","family":"Sng","sequence":"additional","affiliation":[{"name":"Australian e\u2010Health Research Centre Commonwealth Scientific and Industrial Research Organisation  Sydney New South Wales Australia"},{"name":"Applied BioSciences Faculty of Science and Engineering Macquarie University  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasa","family":"Ruseckaite","sequence":"additional","affiliation":[{"name":"Public Health and Preventive Medicine Monash University  Melbourne Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilya","family":"Henner","sequence":"additional","affiliation":[{"name":"Preventive Health Division Genepath  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Twine","sequence":"additional","affiliation":[{"name":"Australian e\u2010Health Research Centre Commonwealth Scientific and Industrial Research Organisation  Sydney New South Wales Australia"},{"name":"Applied BioSciences Faculty of Science and Engineering Macquarie University  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis C.","family":"Bauer","sequence":"additional","affiliation":[{"name":"Australian e\u2010Health Research Centre Commonwealth Scientific and Industrial Research Organisation  Sydney New South Wales Australia"},{"name":"Applied BioSciences Faculty of Science and Engineering Macquarie University  Sydney New South Wales Australia"},{"name":"Department of Biomedical Sciences Faculty of Medicine and Health Science Macquarie University  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urs","family":"Wilgen","sequence":"additional","affiliation":[{"name":"Pathology Queensland Queensland Health  Herston Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carel","family":"Pretorius","sequence":"additional","affiliation":[{"name":"Pathology Queensland Queensland Health  Herston Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulette","family":"Barahona","sequence":"additional","affiliation":[{"name":"Preventive Health Division Genepath  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacobus P. J.","family":"Ungerer","sequence":"additional","affiliation":[{"name":"Pathology Queensland Queensland Health  Herston Queensland Australia"},{"name":"Faculty of Health and Behavioural Sciences University of Queensland  Brisbane Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4593-1581","authenticated-orcid":false,"given":"Glenn","family":"Bennett","sequence":"additional","affiliation":[{"name":"Preventive Health Division Genepath  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.5694\/mja11.10686"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001203\u2010z"},{"key":"e_1_2_9_4_1","unstructured":"GAWGWsH Committee.Genetic carrier screening (C\u2010Obs 63);2019. 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