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In the strategies where NIPS is used as first-tier testing, the cost per additional case detected by adding all possible additional anomalies to a programme that currently targets only common trisomies is $C25 710 (95% CI $C25 489 to $C25 934) for massively parallel shotgun sequencing and $C57 711 (95% CI $C57 141 to $C58 292) for targeted massively parallel sequencing, respectively. The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.<\/jats:p><\/jats:sec>","DOI":"10.1136\/bmjopen-2022-069485","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T16:15:18Z","timestamp":1693412118000},"page":"e069485","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis"],"prefix":"10.1136","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7333-3098","authenticated-orcid":false,"given":"Bounhome","family":"Soukkhaphone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Baradaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ba Diep","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"Nshimyumukiza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5026-5531","authenticated-orcid":false,"given":"Julian","family":"Little","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4504-5507","authenticated-orcid":false,"given":"Francois","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Audibert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Langlois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Reinharz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,8,30]]},"reference":[{"key":"2023083009151003000_13.8.e069485.1","unstructured":"Canada S . Pregnancy outcomes by province or territory of residence (total pregnancies); 2005."},{"key":"2023083009151003000_13.8.e069485.2","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1016\/S1701-2163(16)34961-1","article-title":"Prenatal screening for fetal aneuploidy in singleton pregnancies","volume":"33","author":"Chitayat","year":"2011","journal-title":"J Obstet Gynaecol Can"},{"key":"2023083009151003000_13.8.e069485.3","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.202456"},{"key":"2023083009151003000_13.8.e069485.4","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1097\/GCO.0b013e3282f7321f","article-title":"Chorionic villus sampling and amniocentesis in 2008","volume":"20","author":"Evans","year":"2008","journal-title":"Curr Opin Obstet Gynecol"},{"key":"2023083009151003000_13.8.e069485.5","unstructured":"Wright C . Cell-free fetal nucleic acids for non-invasive prenatal diagnosis. Report of the UK expert working group. PHG Foundation, 2009."},{"key":"2023083009151003000_13.8.e069485.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61742-0"},{"key":"2023083009151003000_13.8.e069485.7","first-page":"735","article-title":"Non-invasive prenatal testing","volume":"46","author":"Harraway","year":"2017","journal-title":"Aust Fam Physician"},{"key":"2023083009151003000_13.8.e069485.8","doi-asserted-by":"crossref","unstructured":"Badeau M , Lindsay C , Blais J , et al . Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. 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Consolidated health economic evaluation reporting standards 2022 (CHEERS 2022) statement: updated reporting guidance for health economic evaluations. 2022. Available: https:\/\/www.equator-network.org\/reporting-guidelines\/cheers\/"},{"key":"2023083009151003000_13.8.e069485.12","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/uog.13393","article-title":"ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice","volume":"44","author":"Salomon","year":"2014","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2023083009151003000_13.8.e069485.13","first-page":"1","article-title":"Noninvasive prenatal testing for trisomies 21, 18, and 13, sex chromosome aneuploidies, and microdeletions: a health technology assessment","volume":"19","year":"2019","journal-title":"Ont Health Technol Assess Ser"},{"key":"2023083009151003000_13.8.e069485.14","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.246"},{"key":"2023083009151003000_13.8.e069485.15","doi-asserted-by":"crossref","unstructured":"Cerruti Mainardi P . Cri du chat syndrome. Orphanet J Rare Dis 2006;1:33. doi:10.1186\/1750-1172-1-33","DOI":"10.1186\/1750-1172-1-33"},{"key":"2023083009151003000_13.8.e069485.16","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/mgg3.12","article-title":"Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns","volume":"1","author":"Tucker","year":"2013","journal-title":"Mol Genet Genomic Med"},{"key":"2023083009151003000_13.8.e069485.17","unstructured":"Smith ACM , Boyd KC , Brennan C , et al . Smith-magenis syndrome. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, Seattle, 2001. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1310\/"},{"key":"2023083009151003000_13.8.e069485.18","unstructured":"Brock S , Dobyns WB , Jansen A . PAFAH1B1-related lissencephaly\/subcortical band heterotopia. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae, 1993-2021. 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