{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:28:01Z","timestamp":1787502481269,"version":"build-2736575974"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"02","license":[{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"vor","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Background Prenatal cell-free DNA (cfDNA) screening has revolutionized the prenatal detection of fetal aneuploidy and other conditions. Originally designed to identify risk for trisomy 21, cfDNA screening has expanded to other fetal aneuploidies, microdeletion syndromes, dominant de novo single-gene disorders, and now autosomal-recessive single-gene conditions. The advancement of cfDNA screening offers patients and providers more options for prenatal risk assessment.<\/jats:p>\n                  <jats:p>Case A 34-year-old G2P1001 patient received a false-negative result from one single-gene noninvasive prenatal testing (sgNIPT), also known as prenatal single-gene cfDNA screening, for fetal cystic fibrosis, followed by a discrepant true-positive result on a different sgNIPT platform. The patient has a prior child affected with cystic fibrosis. The second laboratory returned a high-risk result for fetal cystic fibrosis, which was confirmed with diagnostic amniocentesis.<\/jats:p>\n                  <jats:p>Conclusion Prenatal sgNIPT screening should be individualized after appropriate counseling on the benefits and limitations of available screening and diagnostic tests. While diagnostic amniocentesis remains the society-recommended gold standard for prenatal diagnosis of autosomal-recessive conditions, these new, noninvasive technologies provide more options for patients who either do not want to assume the risks associated with or to better guide decision-making for diagnostic testing.<\/jats:p>","DOI":"10.1055\/a-2844-4548","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T22:51:44Z","timestamp":1775515904000},"page":"e90-e92","source":"Crossref","is-referenced-by-count":2,"title":["Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report"],"prefix":"10.1055","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2587-2070","authenticated-orcid":false,"suffix":"III","given":"James P.","family":"Hogg","sequence":"additional","affiliation":[{"name":"Department of Maternal-Fetal Medicine, Mississippi Perinatal, PLLC, Ridgeland, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,4,20]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1002\/uog.23756","article-title":"Clinical experience with non-invasive prenatal screening for single-gene disorders","volume":"59","author":"P Mohan","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/s41591-018-0334-x","article-title":"Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA","volume":"25","author":"J Zhang","year":"2019","journal-title":"Nat Med"},{"issue":"02","key":"ref3","doi-asserted-by":"crossref","first-page":"100334","DOI":"10.1016\/j.gim.2022.10.014","article-title":"Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions","volume":"25","author":"J Hoskovec","year":"2023","journal-title":"Genet Med"},{"issue":"10","key":"ref4","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1002\/pd.6427","article-title":"Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting","volume":"43","author":"J Wynn","year":"2023","journal-title":"Prenat Diagn"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"100831","DOI":"10.1016\/j.gimo.2023.100831","article-title":"The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California","volume":"1","author":"M T Nguyen","year":"2023","journal-title":"Genet Med Open"},{"issue":"07","key":"ref6","doi-asserted-by":"crossref","first-page":"100858","DOI":"10.1016\/j.gim.2023.100858","article-title":"Barriers to completion of expanded carrier screening in an inner city population","volume":"25","author":"T S Strauss","year":"2023","journal-title":"Genet Med"},{"issue":"03","key":"ref7","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":"M Giles Choates","year":"2020","journal-title":"Prenat Diagn"},{"issue":"01","key":"ref8","doi-asserted-by":"crossref","first-page":"14382","DOI":"10.1038\/s41598-019-50378-8","article-title":"A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT","volume":"9","author":"D S Tsao","year":"2019","journal-title":"Sci Rep"},{"issue":"06","key":"ref9","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/humu.10041","article-title":"Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening","volume":"19","author":"J L Bobadilla","year":"2002","journal-title":"Hum Mutat"},{"issue":"06","key":"ref10","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/j.jcf.2025.10.012","article-title":"Letter to the editor: false reassurance following single gene non-invasive prenatal testing for cystic fibrosis","volume":"24","author":"E T Zemanick","year":"2025","journal-title":"J Cyst Fibros"},{"issue":"06","key":"ref12","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.jcf.2025.08.004","article-title":"Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy","volume":"24","author":"J Wynn","year":"2025","journal-title":"J Cyst Fibros"},{"key":"ref13","first-page":"1344","article-title":"Single gene non-invasive prenatal testing when the father is not available for testing; 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