{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T00:38:40Z","timestamp":1789605520206,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,3,11]],"date-time":"2022-03-11T00:00:00Z","timestamp":1646956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>There is a significant variability in reported fetal fraction (FF), a common cause for no\u2010calls in cell\u2010free (cf)DNA based non\u2010invasive prenatal screening. We examine the effect of imprecision in FF measurement on the performance of cfDNA screening for Down syndrome, when low FF samples are classified as no\u2010calls.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A model for the reported FF was constructed from the FF measurement precision and the underlying true FF. The model was used to predict singleton Down syndrome detection rates (DRs) for various FF cut\u2010offs and underlying discriminatory powers of the test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Increasing the FF cut\u2010off led to slightly increased apparent DR, when no\u2010calls are excluded, and an associated larger decrease in effective DR, when no\u2010calls are included. These effects were smaller for tests with higher discriminatory power and larger as maternal weight increased.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Most no\u2010calls due to a low reported FF have a true FF above the cut\u2010off. The discriminatory power of a test limits its effective DR and FF precision determines the tradeoff between apparent and effective DR when low FF is used to discard samples. Tests with high discriminatory power do not benefit from current FF measurements.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6126","type":"journal-article","created":{"date-parts":[[2022,2,27]],"date-time":"2022-02-27T06:58:52Z","timestamp":1645945132000},"page":"512-517","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Consequences of imprecision in fetal fraction estimation on performance of cell\u2010free DNA screening for Down syndrome"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5019-4312","authenticated-orcid":false,"given":"Fredrik","family":"Persson","sequence":"first","affiliation":[{"name":"Vanadis Diagnostics PerkinElmer Inc.  Sollentuna Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2450-2403","authenticated-orcid":false,"given":"Howard S.","family":"Cuckle","sequence":"additional","affiliation":[{"name":"Faculty of Medicine Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,3,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.97"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4608"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004084"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5068"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15851"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12331"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4119"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2018.288670"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5079"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.111385"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4615"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4816"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.01.030"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.19036"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0718-4"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/hvab014"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14715"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0271-7"},{"key":"e_1_2_9_20_1","first-page":"31","article-title":"Debates on fetal fraction measurement and DNA\u2010based noninvasive prenatal screening: time for standardisation?","volume":"123","author":"Wataganara T","year":"2016","journal-title":"Bangladesh J Obstet Gynaecol"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5620"},{"key":"e_1_2_9_22_1","volume-title":"Mathematical Statistics and Data Analysis","author":"Rice JA","year":"2007"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1406103111"},{"key":"e_1_2_9_24_1","volume-title":"Veriseq v2 nipt solution package insert","author":"Illumina","year":"2020"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.08.006"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0109173"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4804"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14694"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4780"},{"key":"e_1_2_9_30_1","first-page":"49","article-title":"Limit of blank, limit of detection and limit of quantitation","volume":"29","author":"Armbruster DA","year":"2008","journal-title":"Clin Biochem Rev"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21904"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6126","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6126","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6126","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,26]],"date-time":"2023-08-26T00:10:49Z","timestamp":1693008649000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6126"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,11]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["10.1002\/pd.6126"],"URL":"https:\/\/doi.org\/10.1002\/pd.6126","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,11]]},"assertion":[{"value":"2021-10-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}