{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T10:39:38Z","timestamp":1782556778948,"version":"3.54.5"},"reference-count":30,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100020295","name":"Natera","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100020295","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":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high\u2010risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a secondary analysis from the SMART study. Patients with high\u2010risk cfDNA results for 22q11.2DS were compared with the low\u2010risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high\u2010risk neonates without prenatal genetic confirmation with a 1:1 matched low\u2010risk cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high\u2010risk and 17,982 (99.79%) were low\u2010risk for 22q11.2DS by cfDNA screening. High\u2010risk participants had more prenatal diagnostic testing (55.3%; 21\/38 vs. 2.0%; 352\/17,982, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001) and fetal echocardiography (76.9%; 10\/13 vs. 19.6%; 10\/51, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001). High\u2010risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6\/13 vs. 0%; 0\/51, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001), echocardiography (30.8%; 4\/13 vs. 4.0%; 2\/50, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.013), evaluation of calcium levels (46.2%; 6\/13 vs. 4.1%; 2\/49, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001) and lymphocyte count (53.8%; 7\/13 vs. 15.7%; 8\/51, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.008).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>High\u2010risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS\u2010specific evaluations. However, these interventions were not universally performed, and &gt;50% of high\u2010risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6483","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T05:40:49Z","timestamp":1702100449000},"page":"1574-1580","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Impact of high\u2010risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study"],"prefix":"10.1002","volume":"43","author":[{"given":"Kimberly","family":"Martin","sequence":"first","affiliation":[{"name":"Natera Inc.  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Norton","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Gynecology and Reproductive Sciences University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cora","family":"MacPherson","sequence":"additional","affiliation":[{"name":"The Biostatistics Center George Washington University  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8796-2381","authenticated-orcid":false,"given":"Zachary","family":"Demko","sequence":"additional","affiliation":[{"name":"Natera Inc.  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Egbert","sequence":"additional","affiliation":[{"name":"Natera Inc.  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sina","family":"Haeri","sequence":"additional","affiliation":[{"name":"Ouma Health  Park City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fergal","family":"Malone","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Rotunda Hospital Royal College of Surgeons in Ireland  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wapner","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Columbia Presbyterian Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley S.","family":"Roman","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology New York University Langone  New York New York 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