{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:31:36Z","timestamp":1792150296237,"version":"4.4.0"},"reference-count":18,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,11,7]],"date-time":"2022-11-07T00:00:00Z","timestamp":1667779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.gim.2022.10.014","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T10:07:36Z","timestamp":1669889256000},"page":"100334","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":38,"title":["Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions"],"prefix":"10.1016","volume":"25","author":[{"given":"Jennifer","family":"Hoskovec","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily E.","family":"Hardisty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha N.","family":"Talati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline A.","family":"Carozza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5220-6022","authenticated-orcid":false,"given":"Julia","family":"Wynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Riku","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"ten Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeta L.","family":"Vora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.gim.2022.10.014_bib2","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1002\/pd.5588","article-title":"It takes two: uptake of carrier screening among male reproductive partners","volume":"40","author":"Giles Choates","year":"2020","journal-title":"Prenat Diagn"},{"issue":"7","key":"10.1016\/j.gim.2022.10.014_bib3","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"},{"issue":"2","key":"10.1016\/j.gim.2022.10.014_bib4","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1002\/jgc4.1333","article-title":"Perceived barriers to paternal expanded carrier screening following a positive maternal result: to screen or not to screen","volume":"30","author":"Carlotti","year":"2021","journal-title":"J\u00a0Genet Couns"},{"issue":"9","key":"10.1016\/j.gim.2022.10.014_bib5","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1136\/jech.2005.036517","article-title":"Measuring paternal discrepancy and its public health consequences","volume":"59","author":"Bellis","year":"2005","journal-title":"J\u00a0Epidemiol Community Health"},{"issue":"8771","key":"10.1016\/j.gim.2022.10.014_bib6","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1016\/0140-6736(91)91513-T","article-title":"Non-paternity and prenatal genetic screening","volume":"338","author":"Macintyre","year":"1991","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.gim.2022.10.014_bib7","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-019-50378-8","article-title":"A\u00a0novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT","volume":"9","author":"Tsao","year":"2019","journal-title":"Sci Rep"},{"issue":"10","key":"10.1016\/j.gim.2022.10.014_bib9","doi-asserted-by":"crossref","first-page":"2170","DOI":"10.1002\/sim.2677","article-title":"Confidence intervals for predictive values with an emphasis to case-control studies","volume":"26","author":"Mercaldo","year":"2007","journal-title":"Stat Med"},{"issue":"7","key":"10.1016\/j.gim.2022.10.014_bib10","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1001\/jama.2016.11139","article-title":"Modeled fetal risk of genetic diseases identified by expanded carrier screening","volume":"316","author":"Haque","year":"2016","journal-title":"JAMA"},{"issue":"8","key":"10.1016\/j.gim.2022.10.014_bib11","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"},{"issue":"7","key":"10.1016\/j.gim.2022.10.014_bib12","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/gim.2013.188","article-title":"Cystic fibrosis carrier screening in a North American population","volume":"16","author":"Zvereff","year":"2014","journal-title":"Genet Med"},{"issue":"9","key":"10.1016\/j.gim.2022.10.014_bib13","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1002\/humu.21316","article-title":"UMD-CFTR: a database dedicated to CF and CFTR-related disorders","volume":"31","author":"Bareil","year":"2010","journal-title":"Hum Mutat"},{"issue":"4","key":"10.1016\/j.gim.2022.10.014_bib14","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1097\/AOG.0000000000004084","article-title":"Committee on Genetics, the Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG practice bulletin, number 226","volume":"136","year":"2020","journal-title":"Obstet Gynecol"},{"issue":"9","key":"10.1016\/j.gim.2022.10.014_bib16","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1056\/NEJMsa1506575","article-title":"Declines in unintended pregnancy in the United States, 2008-2011","volume":"374","author":"Finer","year":"2016","journal-title":"N\u00a0Engl J Med"},{"issue":"4-5","key":"10.1016\/j.gim.2022.10.014_bib17","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1007\/s10680-021-09591-3","article-title":"Socio-economic differences in the prevalence of single motherhood in North America and Europe","volume":"37","author":"Koops","year":"2021","journal-title":"Eur J Popul"},{"issue":"17","key":"10.1016\/j.gim.2022.10.014_bib18","first-page":"70","article-title":"Births: final data for 2020. Figure\u00a01. Live births and general fertility rates: United States","author":"Osterman","year":"2022","journal-title":"Natl Vital Stat Rep"},{"issue":"7","key":"10.1016\/j.gim.2022.10.014_bib19","doi-asserted-by":"crossref","first-page":"E270","DOI":"10.1002\/ajh.26570","article-title":"Validation of single-gene noninvasive prenatal testing for sickle cell disease","volume":"97","author":"Westin","year":"2022","journal-title":"Am J Hematol"},{"issue":"3","key":"10.1016\/j.gim.2022.10.014_bib20","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"},{"issue":"4","key":"10.1016\/j.gim.2022.10.014_bib21","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/j.whi.2017.02.002","article-title":"Multiple unintended pregnancies in U.S. women: a systematic review","volume":"27","author":"Aztlan-James","year":"2017","journal-title":"Womens Health Issues"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022010024?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022010024?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:55:08Z","timestamp":1761098108000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360022010024"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S1098360022010024"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2022.10.014","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2022.10.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"100334"}}