{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T13:39:58Z","timestamp":1785332398176,"version":"3.55.0"},"reference-count":42,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:00:00Z","timestamp":1713139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016939","name":"Myriad Genetics","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016939","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>22q11.2 deletion syndrome (DS) is a serious condition with a range of features. The small microdeletion causing 22q11.2DS makes it technically challenging to detect using standard prenatal cfDNA screening. Here, we assess 22q11.2 microdeletion clinical performance by a prenatal cfDNA screen that incorporates fetal fraction (FF) amplification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study cohort consisted of patients who received Prequel (Myriad Genetics, Inc.), a prenatal cfDNA screening that incorporates FF amplification, and met additional eligibility criteria. Pregnancy outcomes were obtained via a routine process for continuous quality improvement. Samples with diagnostic testing results were used to calculate positive predictive value (PPV).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>379,428 patients met study eligibility criteria, 76 of whom were screen\u2010positive for a de novo 22q11.2 microdeletion. 22 (29.7%) had diagnostic testing results available, and all 22 cases were confirmed as true positives, for a PPV of 100% (95% CI 84.6%\u2013100%). This performance was based on cases that ranged broadly across FF (5.9%\u201341.1%, mean 23.0%), body mass index (22.3\u201344.8, mean 29.9), and gestational age at testing (10.0w\u201334.6w, median 12.7w). Ultrasound findings in screen\u2010positive pregnancies were consistent with those known to be associated with 22q11.2DS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>22q11.2 microdeletion screening that incorporates FF amplification demonstrated high PPV across both general and high\u2010risk population cohorts.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6562","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T06:00:18Z","timestamp":1713247218000},"page":"925-935","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["High positive predictive value 22q11.2 microdeletion screening by prenatal cell\u2010free DNA testing that incorporates fetal fraction amplification"],"prefix":"10.1002","volume":"44","author":[{"given":"Carly","family":"Hammer","sequence":"first","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Summer","family":"Pierson","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Acevedo","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Independent (unaffiliated)  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Westover","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine and Perinatal Genetics Capital Health  Trenton New Jersey USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devika","family":"Chawla","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brent","family":"Mabey","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale","family":"Muzzey","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3051-2667","authenticated-orcid":false,"given":"Katherine","family":"Johansen Taber","sequence":"additional","affiliation":[{"name":"Department of Research &amp; Development Myriad Genetics Inc  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,15]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"McDonald\u2010McGinn DM","year":"1999"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4864"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GRF.0000000000000799"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.719"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.789\u2010a"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.026880"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1203382"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s2215\u20100366(18)30168\u20108"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.9778\/cmajo.20200294"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez286"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13098"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.002"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000438708"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5391"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.180794"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4640"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001135\u20108"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1146669"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000519057"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14010062"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.006"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.004"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001009\u20105"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0808319105"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.21904"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.219"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010018\u20100410\u20106"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4321"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.08.006"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.3961"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.03.019"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100467\u20104"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.005"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000004107"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61365"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0000000000001952"},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1311037"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6562","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T02:38:51Z","timestamp":1720060731000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6562"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,15]]},"references-count":42,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/pd.6562"],"URL":"https:\/\/doi.org\/10.1002\/pd.6562","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,15]]},"assertion":[{"value":"2023-11-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}