{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T23:51:35Z","timestamp":1789429895850,"version":"build-2803163510"},"reference-count":25,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T00:00:00Z","timestamp":1677456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Introduction: Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy. Methods: We report two cases of body stalk anomalies complicated by ectopia cordis. The first case was identified during a first ultrasound examination at 9 weeks of gestation. The second was identified during an ultrasound examination at 13 weeks of gestation. Both of these cases were diagnosed using high-quality 2- and 3-dimensional ultrasonographic images obtained by the Realistic Vue and Crystal Vue techniques. The chorionic villus sampling showed that the fetal karyotype and CGH-array were both normal. Results: In our clinical case reports, the patients, immediately after the diagnosis of a body stalk anomaly complicated by ectopia cordis, opted for the termination of pregnancies. Conclusion: Performing an early diagnosis of a body stalk anomaly that is complicated by ectopia cordis is desirable, considering their poor prognoses. Most of the reported cases in the literature suggest that an early diagnosis can be made between 10 and 14 weeks of gestation. A combination of 2- and 3-dimensional sonography could allow an early diagnosis of body stalk anomalies complicated by ectopia cordis, particularly using new ultrasonographic techniques, the Realistic Vue and the Crystal Vue.<\/jats:p>","DOI":"10.3390\/jcm12051896","type":"journal-article","created":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T03:57:49Z","timestamp":1677643069000},"page":"1896","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Body Stalk Anomaly Complicated by Ectopia Cordis: First-Trimester Diagnosis of Two Cases Using 2- and 3-Dimensional Sonography"],"prefix":"10.3390","volume":"12","author":[{"given":"Elisa","family":"Pappalardo","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-0386","authenticated-orcid":false,"given":"Ferdinando Antonio","family":"Gulino","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Ettore","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9930-0200","authenticated-orcid":false,"given":"Francesco","family":"Cannone","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Ettore","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, 95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/ajmg.1320280302","article-title":"Limb-body wall complex, I: Pathogenesis","volume":"28","author":"Curry","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ajmg.1320280303","article-title":"Limb-body wall complex, II: Limb and spine defects","volume":"28","author":"Curry","year":"1987","journal-title":"Am. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1046\/j.1469-0705.1997.10060416.x","article-title":"Body stalk anomaly at 10\u201314 weeks\u2019 gestation","volume":"10","author":"Daskalakis","year":"1997","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1002\/uog.84","article-title":"Prenatal ultrasound diagnosis and management of body stalk anomaly: Analysis of nine singleton and two multiple pregnancies","volume":"21","author":"Smrcek","year":"2003","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"865","DOI":"10.7863\/jum.2013.32.5.865","article-title":"Ectopia cordis in a first-trimester sonographic screening program for aneuploidy","volume":"32","author":"Sepulveda","year":"2013","journal-title":"J. Ultrasound Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.7863\/jum.2011.30.12.1739","article-title":"First-trimester diagnosis of body stalk anomaly using 2- and 3-dimensional sonography","volume":"30","author":"Murphy","year":"2011","journal-title":"J. Ultrasound Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"133","DOI":"10.15557\/JoU.2017.0020","article-title":"Body stalk anomaly: Antenatal sonographic diagnosis of this rare entity with review of literature","volume":"17","author":"Singh","year":"2017","journal-title":"J. Ultrason."},{"key":"ref_8","first-page":"OD06","article-title":"Body stalk anomaly complicated by ectopia cordis in the first trimester","volume":"8","author":"Shibata","year":"2014","journal-title":"J. Clin. Diagn. Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1080\/14767050601135097","article-title":"Prenatal diagnosis of body stalk anomaly in the first trimester of pregnancy","volume":"20","author":"Tsirka","year":"2007","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0020-7292(95)80008-Z","article-title":"Body stalk anomaly: Prenatal diagnosis","volume":"51","author":"Takeuchi","year":"1995","journal-title":"Int. J. Gynaecol. Obstet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1002\/pd.1970130205","article-title":"Prenatal diagnosis and management of anterior abdominal wall defects in the west of Scotland","volume":"13","author":"Morrow","year":"1993","journal-title":"Prenat. Diagn."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"3974139","DOI":"10.1155\/2016\/3974139","article-title":"Role of Ultrasound in Body Stalk Anomaly and Amniotic Band Syndrome","volume":"2016","author":"Routhu","year":"2016","journal-title":"Int. J. Reprod. Med."},{"key":"ref_13","first-page":"523","article-title":"Limb-body wall complex associated with cocaine abuse: Further evidence of cocaine\u2019s teratogenicity","volume":"80","author":"Viscarello","year":"1992","journal-title":"Obstet. Gynecol."},{"key":"ref_14","unstructured":"Bianchi, D., Crombleholme, T., and D\u2019Alton, M. (2000). Fetology: Diagnosis and Management of the Fetal Patient, McGraw-Hill."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/1096-8628(20001002)94:4<284::AID-AJMG4>3.0.CO;2-M","article-title":"Maternal uniparental disomy of chromosome 16 and body stalk anomaly","volume":"94","author":"Chan","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_16","first-page":"357285","article-title":"Body stalk anomaly in a 9-week pregnancy","volume":"2014","author":"Quijano","year":"2014","journal-title":"Case Rep. Obstet. Gynecol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/pd.2947","article-title":"Body stalk anomaly: Adverse maternal outcomes in a series of 21 cases","volume":"32","author":"Costa","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_18","unstructured":"Bianchi, D.W., Crombleholme, T.M., D\u2019Alton, M.E., and Malone, F.D. (2010). Fetology: Diagnosis and Management of the Fetal Patient, McGraw-Hill."},{"key":"ref_19","first-page":"297","article-title":"Ectopia cordis","volume":"10","author":"Amato","year":"2000","journal-title":"Chest Surg. Clin. N. Am."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1046\/j.1469-0705.1997.10020137.x","article-title":"Prenatal diagnosis of ectopia cordis at 10 weeks of gestation using two-dimensional and three-dimensional ultra-sonography","volume":"10","author":"Liang","year":"1997","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1053\/j.sempedsurg.2010.03.006","article-title":"The embryologic origin of ventral body wall defects","volume":"19","author":"Sadler","year":"2010","journal-title":"Semin. Pediatr. Surg."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/pd.2642","article-title":"Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks","volume":"31","author":"Syngelaki","year":"2011","journal-title":"Prenat. Diagn."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/s00404-002-0339-y","article-title":"A case report of body stalk anomaly complicating a twin pregnancy","volume":"268","author":"Humbsch","year":"2003","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_24","first-page":"132","article-title":"Limb-body wall complex: A case series","volume":"12","author":"Luehr","year":"2002","journal-title":"J. Matern. Fetal Neonatal Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1046\/j.1469-0705.2002.00631.x","article-title":"Monozygotic twins discordant for body stalk anomaly","volume":"20","author":"Daskalakis","year":"2002","journal-title":"Ultrasound Obstet. Gynecol."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/5\/1896\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:43:35Z","timestamp":1760121815000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/5\/1896"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,27]]},"references-count":25,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["jcm12051896"],"URL":"https:\/\/doi.org\/10.3390\/jcm12051896","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,27]]}}}