{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:58:01Z","timestamp":1780466281425,"version":"3.54.1"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpm-2023-0197_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To estimate factors affecting survival in prenatally diagnosed omphalocele, factors predicting genetic abnormalities, and association of omphalocele and specific groups of anomalies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2023-0197_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A retrospective observational study was performed, analyzing data of all omphalocele cases diagnosed prenatally in the perinatology clinic of a referral center. Demographic data, characteristics of the omphalocele (size,\u00a0content, associated anomalies), results of genetic testing, pregnancy outcomes and postnatal outcomes were analyzed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2023-0197_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Sixty-nine fetuses with omphalocele were included. The prevalence of omphalocele in livebirth was 0.007\u202f%. Overall survival during the study period was 73.9\u202f%.\u00a0Twenty-eight (71.7\u202f%) out of 39 cases with associated anomalies who were born live, survived, whereas survival was 85.7\u202f% in the isolated cases. The most common anomaly associated with omphalocele were cardiac defects with 42\u202f%; followed by placental or umbilical cord anomalies (28.9\u202f%), skeletal defects (27.5), genitourinary anomalies (20.2\u202f%), central nervous system (18.8\u202f%) and facial anomalies (7.2\u202f%), respectively. Eighty-five percent of the fetuses had at least one additional anomaly or ultrasound finding. Skeletal abnormalities and staged surgical repair of omphalocele were associated with survival. Associated skeletal anomalies and staged repair significantly increase the risk of postnatal death (OR: 4.6 95\u202f% CI (1.1\u201319.5) and (OR: 10.3 95\u202f% CI (1.6\u201363.9), respectively).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpm-2023-0197_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Associated skeletal abnormalities and staged surgical repair are negatively associated with postnatal survival.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpm-2023-0197","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T15:40:33Z","timestamp":1690990833000},"page":"1189-1196","source":"Crossref","is-referenced-by-count":3,"title":["An analysis of factors affecting survival in prenatally diagnosed omphalocele"],"prefix":"10.1515","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8160-7853","authenticated-orcid":false,"given":"I\u015f\u0131l","family":"Ayhan","sequence":"first","affiliation":[{"name":"Department of Perinatology , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5578-4437","authenticated-orcid":false,"given":"Oya","family":"Demirci","sequence":"additional","affiliation":[{"name":"Department of Perinatology , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6325-1910","authenticated-orcid":false,"given":"L\u00fctfiye","family":"Uygur","sequence":"additional","affiliation":[{"name":"Department of Perinatology , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0152-399X","authenticated-orcid":false,"given":"\u015eahap","family":"Odacilar","sequence":"additional","affiliation":[{"name":"Department of Perinatology , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4465-0975","authenticated-orcid":false,"given":"Olga Devrim","family":"\u00d6zbay Ayvaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3425-2727","authenticated-orcid":false,"given":"Ali","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7809-4137","authenticated-orcid":false,"given":"Ay\u015fenur","family":"Celayir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , University of Health Sciences, Zeynep Kamil Women and Children\u2019s Diseases Training and Research Hospital , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2023,8,3]]},"reference":[{"key":"2023122016104818820_j_jpm-2023-0197_ref_001","doi-asserted-by":"crossref","unstructured":"Bielicki, IN, Somme, S, Frongia, G, Holland-Cunz, SG, Vuille-Dit-Bille, RN. Abdominal wall defects-current treatments. Children 2021;8:7. https:\/\/doi.org\/10.3390\/children8020170.","DOI":"10.3390\/children8020170"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_002","unstructured":"EUROCAT. Prevalence charts and tables\u2014prevalence per 10,000 births. Omphalocele\u20142000 to 2020. Available online: https:\/\/eu-rd-platform.jrc.ec.europa.eu\/eurocat\/eurocat-data\/prevalence_en [Internet]."},{"key":"2023122016104818820_j_jpm-2023-0197_ref_003","unstructured":"EUROCAT. Prenatal detection rates charts and tables-overall proportion of cases prenatally diagnosed; 2016\u20132020. Available online: https:\/\/eu-rd-platform.jrc.ec.europa.eu\/eurocat\/eurocat-data\/prenatal-screening-and-diagnosis_en [Internet]."},{"key":"2023122016104818820_j_jpm-2023-0197_ref_004","doi-asserted-by":"crossref","unstructured":"Barisic, I, Clementi, M, H\u00e4usler, M, Gjergja, R, Kern, J, Stoll, C. Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol 2001;18:309\u201316. https:\/\/doi.org\/10.1046\/j.0960-7692.2001.00534.x.","DOI":"10.1046\/j.0960-7692.2001.00534.x"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_005","doi-asserted-by":"crossref","unstructured":"Marshall, J, Salemi, JL, Tanner, JP, Ramakrishnan, R, Feldkamp, ML, Marengo, LK, et al.. Prevalence, correlates, and outcomes of omphalocele in the United States, 1995\u20132005. Obstet Gynecol 2015;126:284\u201393. https:\/\/doi.org\/10.1097\/aog.0000000000000920.","DOI":"10.1097\/AOG.0000000000000920"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_006","doi-asserted-by":"crossref","unstructured":"Corey, KM, Hornik, CP, Laughon, MM, McHutchison, K, Clark, RH, Smith, PB. Frequency of anomalies and hospital outcomes in infants with gastroschisis and omphalocele. Early Hum Dev 2014;90:421\u20134. https:\/\/doi.org\/10.1016\/j.earlhumdev.2014.05.006.","DOI":"10.1016\/j.earlhumdev.2014.05.006"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_007","doi-asserted-by":"crossref","unstructured":"Sakonidou, S, Ali, K, Farmer, I, Hickey, A, Greenough, A. Mortality and short-term morbidity in infants with exomphalos. Pediatr Int 2018;60:438\u201341. https:\/\/doi.org\/10.1111\/ped.13537.","DOI":"10.1111\/ped.13537"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_008","doi-asserted-by":"crossref","unstructured":"Conner, P, Vejde, JH, Burgos, CM. Accuracy and impact of prenatal diagnosis in infants with omphalocele. Pediatr Surg Int 2018;34:629\u201333. https:\/\/doi.org\/10.1007\/s00383-018-4265-x.","DOI":"10.1007\/s00383-018-4265-x"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_009","doi-asserted-by":"crossref","unstructured":"Raitio, A, Tauriainen, A, Syv\u00e4nen, J, Kemppainen, T, L\u00f6yttyniemi, E, Sankilampi, U, et al.. Omphalocele in Finland from 1993 to 2014: trends, prevalence, mortality, and associated malformations-A population-based study. Eur J Pediatr Surg 2021;31:172\u20136. https:\/\/doi.org\/10.1055\/s-0040-1703012.","DOI":"10.1055\/s-0040-1703012"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_010","doi-asserted-by":"crossref","unstructured":"Hijkoop, A, Peters, NCJ, Lechner, RL, van Bever, Y, van Gils-Frijters, A, Tibboel, D, et al.. Omphalocele: from diagnosis to growth and development at 2 years of age. Arch Dis Child Fetal Neonatal Ed 2019;104:F18\u2013f23. https:\/\/doi.org\/10.1136\/archdischild-2017-314700.","DOI":"10.1136\/archdischild-2017-314700"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_011","doi-asserted-by":"crossref","unstructured":"Chock, VY, Davis, AS, Cho, SH, Bax, C, Fluharty, E, Weigel, N, et al..\u00a0Prenatally diagnosed omphalocele: characteristics associated\u00a0with adverse neonatal outcomes. J Perinatol 2019;39:1111\u20137. https:\/\/doi.org\/10.1038\/s41372-019-0410-1.","DOI":"10.1038\/s41372-019-0410-1"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_012","doi-asserted-by":"crossref","unstructured":"Ozawa, K, Ishikawa, H, Maruyama, Y, Nagata, T, Nagase, H, Itani, Y, et al.. Congenital omphalocele and polyhydramnios: a study of 52 cases. Fetal Diagn Ther 2011;30:184\u20138. https:\/\/doi.org\/10.1159\/000327542.","DOI":"10.1159\/000327542"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_013","doi-asserted-by":"crossref","unstructured":"Adams, AD, Stover, S, Rac, MW. Omphalocele-What should we tell the prospective parents? Prenat Diagn 2021;41:486\u201396. https:\/\/doi.org\/10.1002\/pd.5886.","DOI":"10.1002\/pd.5886"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_014","doi-asserted-by":"crossref","unstructured":"Lakasing, L, Cicero, S, Davenport, M, Patel, S, Nicolaides, KH. Current outcome of antenatally diagnosed exomphalos: an 11 year review. J\u00a0Pediatr Surg 2006;41:1403\u20136. https:\/\/doi.org\/10.1016\/j.jpedsurg.2006.04.015.","DOI":"10.1016\/j.jpedsurg.2006.04.015"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_015","doi-asserted-by":"crossref","unstructured":"Shi, X, Tang, H, Lu, J, Yang, X, Ding, H, Wu, J. Prenatal genetic diagnosis\u00a0of\u00a0omphalocele by karyotyping, chromosomal microarray\u00a0analysis and exome sequencing. Ann Med 2021;53:1285\u201391. https:\/\/doi.org\/10.1080\/07853890.2021.1962966.","DOI":"10.1080\/07853890.2021.1962966"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_016","doi-asserted-by":"crossref","unstructured":"Wapner, RJ, Martin, CL, Levy, B, Ballif, BC, Eng, CM, Zachary, JM, et al.. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175\u201384. https:\/\/doi.org\/10.1056\/nejmoa1203382.","DOI":"10.1056\/NEJMoa1203382"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_017","doi-asserted-by":"crossref","unstructured":"Lord, J, McMullan, DJ, Eberhardt, RY, Rinck, G, Hamilton, SJ, Quinlan-Jones, E, et al.. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747\u201357. https:\/\/doi.org\/10.1097\/01.ogx.0000569244.48139.92.","DOI":"10.1097\/01.ogx.0000569244.48139.92"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_018","doi-asserted-by":"crossref","unstructured":"Ferretti, L, Mellis, R, Chitty, LS. Update on the use of exome sequencing in the diagnosis of fetal abnormalities. Eur J Med Genet 2019;62:103663. https:\/\/doi.org\/10.1016\/j.ejmg.2019.05.002.","DOI":"10.1016\/j.ejmg.2019.05.002"},{"key":"2023122016104818820_j_jpm-2023-0197_ref_019","unstructured":"Shuman, C, Beckwith, JB, Weksberg, R. Beckwith-wiedemann syndrome. In: Adam, MP, Mirzaa, GM, Pagon, RA, Wallace, SE, Bean, LJH, Gripp, KW, et al.., editors. GeneReviews(\u00ae). Seattle (WA): University of Washington; 1993. Seattle Copyright \u00a9 1993\u20132023."},{"key":"2023122016104818820_j_jpm-2023-0197_ref_020","doi-asserted-by":"crossref","unstructured":"Shieh, HF, Estroff, JA, Barnewolt, CE, Zurakowski, D, Tan, WH, Buchmiller, TL. Prenatal imaging throughout gestation in Beckwith-Wiedemann syndrome. Prenat Diagn 2019;39:792\u20135. https:\/\/doi.org\/10.1002\/pd.5440.","DOI":"10.1002\/pd.5440"}],"container-title":["Journal of Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpm-2023-0197\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpm-2023-0197\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,20]],"date-time":"2023-12-20T16:13:31Z","timestamp":1703088811000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpm-2023-0197\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,3]]},"references-count":20,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,8,24]]},"published-print":{"date-parts":[[2023,11,27]]}},"alternative-id":["10.1515\/jpm-2023-0197"],"URL":"https:\/\/doi.org\/10.1515\/jpm-2023-0197","relation":{},"ISSN":["0300-5577","1619-3997"],"issn-type":[{"value":"0300-5577","type":"print"},{"value":"1619-3997","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,3]]}}}