{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T13:15:43Z","timestamp":1793020543850,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"6-7","license":[{"start":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T00:00:00Z","timestamp":1710720000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra\u2010cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.2 deletion syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Case\u2010control study of fetuses evaluated from 2016 to 2022. The study group included fetuses with laboratory confirmation of 22q11.2 deletion syndrome. The control group included pregnancies with conotruncal cardiac anomalies with normal microarray as well as structurally normal fetuses with normal microarray. The CSP and thymus were routinely measured during anatomical ultrasound in all patients at their initial visit at 27.1\u00a0\u00b1\u00a04.7\u00a0weeks. The CSP and thymus measurements were classified as abnormal if they were &gt;95% or &lt;5% for gestational age, respectively. The groups were compared using analysis of variance or Kruskal\u2010Wallis for continuous variables and Fisher's exact test for categorical variables. Logistic regression was performed, and a Receiver Operating Characteristic (ROC) curve was constructed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 47 fetuses with 22q11.2 deletion syndrome and compared them to 47 fetuses with conotruncal anomalies and normal microarray and 47 structurally normal fetuses with normal microarray. 51% (24\/47) of fetuses with 22q11.2 deletion syndrome had an enlarged CSP compared to 6% (3\/47) of fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001). Of the fetuses with 22q11.2 deletion syndrome, 83% (39\/47) had a hypoplastic or absent thymus compared to 9% (4\/47) of the fetuses with a conotruncal anomaly and normal microarray and none of the structurally normal fetuses (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001). 87% (41\/47) of the fetuses with 22q11.2 deletion syndrome had conotruncal cardiac anomalies. Logistic regression revealed that both enlarged CSP and hypoplastic\/absent thymus were associated with 22q11.2 deletion syndrome. The area under the ROC curve for the two markers was 0.94.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>An enlarged CSP and hypoplastic\/absent thymus appear to be part of the fetal phenotype of 22q11.2 deletion syndrome. These markers are associated with conotruncal anomalies in the setting of 22q11.2 deletion syndrome but not in normal controls or fetuses with conotruncal defects and normal microarrays.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6555","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T14:34:17Z","timestamp":1710772457000},"page":"796-803","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"44","author":[{"given":"Kimberly B.","family":"Gaiser","sequence":"first","affiliation":[{"name":"Division of Human Genetics The 22q and You Center and Clinical Genetic Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica M.","family":"Schindewolf","sequence":"additional","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura J.","family":"Conway","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly G.","family":"Coleman","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward R.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack R.","family":"Rychik","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Fetal Heart Program Division of Pediatric Cardiology Department of Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne E.","family":"Debari","sequence":"additional","affiliation":[{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Division of Radiology Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Mcdonald\u2010Mcginn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The 22q and You Center and Clinical Genetic Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics The 22q and You Center and Clinical Genetic Center Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie S.","family":"Moldenhauer","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5829-1961","authenticated-orcid":false,"given":"Juliana S.","family":"Gebb","sequence":"additional","affiliation":[{"name":"Perelman School of Medicine of the University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.71"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302343"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.489"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817\u2010200101000\u201000006"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4613"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.112.1.101"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40637"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.002"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.01.019"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1146669"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4911"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20100705.2002.00864.x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38665"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.3979"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469\u20100705.1998.12060419.x"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.257"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.8952"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgyn.2015.04.015"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.2147\/tacg.s364543"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6555","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T12:27:23Z","timestamp":1718540843000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6555"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,18]]},"references-count":20,"journal-issue":{"issue":"6-7","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/pd.6555"],"URL":"https:\/\/doi.org\/10.1002\/pd.6555","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,18]]},"assertion":[{"value":"2023-10-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}