{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:38:57Z","timestamp":1792100337399,"version":"4.4.0"},"reference-count":45,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T00:00:00Z","timestamp":1629849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Teratomas are the most common congenital tumors, occurring along the midline or paraxial sites, or uncommonly, the mediastinum. Teratomas are classified as mature, containing only differentiated tissues from the three germinal layers; and immature, which also present with neuroectodermal elements, ependymal rosettes, and immature mesenchyme. Herein, we describe a new case of fetal mediastinal immature teratoma detected at 21 weeks of gestational age (wga) + 1 day with thorough cytogenetic analysis. Ultrasound (US) showed a solid and cystic mass located in the anterior mediastinum, measuring 1.8 \u00d7 1.3 cm with no signs of hydrops. At 22 wga, US showed a mass of 2.4 cm in diameter and moderate pericardial effusions. Although the prenatal risks and available therapeutic strategies were explained to the parents, they opted for termination of pregnancy. Histology showed an immature teratoma, Norris grade 2. Karyotype on the fetus and tumor exhibited a chromosomal asset of 46,XX. The fetal outcome in the case of mediastinal teratoma relies on the development of hydrops due to mass compression of vessels and heart failure. Prenatal US diagnosis and close fetal monitoring are paramount in planning adequate treatment, such as in utero surgery, ex utero intrapartum therapy (EXIT) procedure, and surgical excision after birth.<\/jats:p>","DOI":"10.3390\/diagnostics11091543","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T00:19:26Z","timestamp":1629937166000},"page":"1543","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Fetal Presentation of Mediastinal Immature Teratoma: Ultrasound, Autopsy and Cytogenetic Findings"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4889-1944","authenticated-orcid":false,"given":"Maria Paola","family":"Bonasoni","sequence":"first","affiliation":[{"name":"Pathology Unit, Azienda Unit\u00e0 Sanitaria Locale\u2014IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Comitini","sequence":"additional","affiliation":[{"name":"Department of Obstetrics & Gynaecology, Azienda Unit\u00e0 Sanitaria Locale\u2014IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Barbieri","sequence":"additional","affiliation":[{"name":"Medical Genetics, Laboratory, Azienda Unit\u00e0 Sanitaria Locale\u2014IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2299-5160","authenticated-orcid":false,"given":"Andrea","family":"Palicelli","sequence":"additional","affiliation":[{"name":"Pathology Unit, Azienda Unit\u00e0 Sanitaria Locale\u2014IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4383-4972","authenticated-orcid":false,"given":"Nunzio","family":"Salfi","sequence":"additional","affiliation":[{"name":"Pathology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluigi","family":"Pilu","sequence":"additional","affiliation":[{"name":"Obstetric Unit, Department of Medical and Surgical Sciences, Sant\u2019Orsola-Malpighi Hospital, 40138 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/uog.5260","article-title":"Spectrum and outcome of prenatally diagnosed fetal tumors","volume":"31","author":"Kamil","year":"2008","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"390","DOI":"10.3109\/01443615.2015.1085845","article-title":"Diagnosis and management of a rare case of fetal mediastinal teratoma without non-immunological hydrops","volume":"36","author":"Gaetani","year":"2016","journal-title":"J. Obstet. Gynaecol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0147-0272(85)80031-3","article-title":"Teratomas in infancy and childhood","volume":"9","author":"Grosfeld","year":"1985","journal-title":"Curr. Probl. Cancer"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1002\/pd.1970140920","article-title":"In utero development of a mediastinal teratoma: A second-trimester event","volume":"14","author":"Froberg","year":"1994","journal-title":"Prenat. Diagn."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1097\/00000658-198309000-00016","article-title":"Teratomas in infancy and childhood. A 54-year experience at the Children\u2019s Hospital Medical Center","volume":"198","author":"Tapper","year":"1983","journal-title":"Ann. Surg."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1007\/s00247-009-1160-6","article-title":"Tumours of the fetal body: A review","volume":"39","author":"Avni","year":"2009","journal-title":"Pediatr. Radiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/j.jpedsurg.2004.09.023","article-title":"Management of fetal mediastinal teratoma","volume":"40","author":"Merchant","year":"2005","journal-title":"J. Pediatr. Surg."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1016\/j.jpedsurg.2010.08.055","article-title":"Successful management of a large fetal mediastinal teratoma complicated by hydrops fetalis","volume":"45","author":"Takayasu","year":"2010","journal-title":"J. Pediatr. Surg."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1002\/pd.1970090512","article-title":"Intrauterine mediastinal teratoma associated with non-immune hydrops fetalis","volume":"9","author":"Weinraub","year":"1989","journal-title":"Prenat. Diagn."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1055\/a-1114-6572","article-title":"Fetal Intrapericardial Teratomas: An Update","volume":"224","author":"Yuan","year":"2020","journal-title":"Z. Geburtshilfe Neonatol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1159\/000073138","article-title":"Pericardial teratoma: Prenatal diagnosis and course","volume":"18","author":"Tollens","year":"2003","journal-title":"Fetal. Diagn. Ther."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/1097-0142(19820115)49:2<398::AID-CNCR2820490231>3.0.CO;2-B","article-title":"Benign clinical behavior of immature mediastinal teratoma in infancy and childhood: Report of two cases and review of the literature","volume":"49","author":"Carter","year":"1982","journal-title":"Cancer"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/jcu.22808","article-title":"Fetal mediastinal teratoma: Misinterpretation as congenital cystic lesions of the lung on prenatal ultrasound","volume":"48","author":"Darouich","year":"2020","journal-title":"J. Clin. Ultrasound."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1002\/jcu.22876","article-title":"Prenatal sonographic features of fetal mediastinal teratoma","volume":"48","author":"Srisupundit","year":"2020","journal-title":"J. Clin. Ultrasound."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1309\/FK9D5WBA1UEPT5BB","article-title":"Quantitative standards for fetal and neonatal autopsy","volume":"126","author":"Archie","year":"2006","journal-title":"Am. J. Clin. Pathol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2359","DOI":"10.1002\/1097-0142(197605)37:5<2359::AID-CNCR2820370528>3.0.CO;2-Q","article-title":"Immature (malignant) teratoma of the ovary: A clinical and pathologic study of 58 cases","volume":"37","author":"Norris","year":"1976","journal-title":"Cancer"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1097\/00004347-199410000-00001","article-title":"The influence of grade on the outcome of stage I ovarian immature (malignant) teratomas and the reproducibility of grading","volume":"13","author":"Norris","year":"1994","journal-title":"Int. J. Gynecol. Pathol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"289","DOI":"10.7863\/jum.2000.19.4.289","article-title":"Prenatal sonographic depiction of fetal mediastinal immature teratoma","volume":"19","author":"Wang","year":"2000","journal-title":"J. Ultrasound Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"496","DOI":"10.12891\/ceog3564.2017","article-title":"A case report of fetal malignant immature mediastinal teratoma","volume":"44","author":"Gong","year":"2017","journal-title":"Clin. Exp. Obstet. Gynecol."},{"key":"ref_20","first-page":"481","article-title":"Prenatal ultrasonographic diagnosis and successful management of mediastinal teratoma. A case report","volume":"78","author":"Dumbell","year":"1990","journal-title":"S. Afr. Med. J."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1046\/j.1469-0705.1998.11030214.x","article-title":"Prenatal sonographic characteristics and Doppler blood flow study in a case of a large fetal mediastinal teratoma","volume":"11","author":"Liang","year":"1998","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1046\/j.1469-0705.1998.12050369.x","article-title":"Prenatal diagnosis of a fetal mediastinal teratoma","volume":"12","author":"Schild","year":"1998","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_23","first-page":"76","article-title":"Congenital mediastinal immature teratoma: A case report with autopsy findings","volume":"44","author":"Aksoy","year":"2002","journal-title":"Turk J. Pediatr."},{"key":"ref_24","first-page":"384","article-title":"Mediastinal masses: A case of fetal teratoma and literature review","volume":"39","author":"Giancotti","year":"2012","journal-title":"Clin. Exp. Obstet. Gynecol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1016\/j.jpedsurg.2004.03.045","article-title":"Perinatal (fetal and neonatal) germ cell tumors","volume":"39","author":"Isaacs","year":"2004","journal-title":"J. Pediatr. Surg."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/ajmg.a.31031","article-title":"Cystic adenomatoid malformation of the lung: Review of genetics, prenatal diagnosis, and in utero treatment","volume":"140","author":"Wilson","year":"2006","journal-title":"Am. J. Med. Genet. A."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"F65","DOI":"10.1136\/fn.84.1.F65","article-title":"Mediastinal teratoma presenting as apparent fresh stillbirth","volume":"84","author":"Allman","year":"2001","journal-title":"Arch. Dis. Child Fetal. Neonatal. Ed."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1055\/s-0028-1083836","article-title":"A case of mediastinal teratoma as a cause of nonimmune hydrops fetalis, and literature review","volume":"25","author":"Wesolowski","year":"2008","journal-title":"Am. J. Perinatol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"397","DOI":"10.2478\/raon-2013-0080","article-title":"Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency","volume":"48","author":"Simoncic","year":"2014","journal-title":"Radiol. Oncol."},{"key":"ref_30","first-page":"294","article-title":"Unusual presentations of fetal teratoma","volume":"11","author":"Kuller","year":"1991","journal-title":"J. Perinatol."},{"key":"ref_31","first-page":"708","article-title":"Mediastinal teratoma as a rare cause of hydrops fetalis and death: Report of 3 cases","volume":"53","author":"Noreen","year":"2008","journal-title":"J. Reprod. Med."},{"key":"ref_32","unstructured":"Kang, J., Mashaal, H., and Anjum, F. (2021). Mediastinal Germ Cell Tumors, StatPearls [Internet]."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.pathol.2018.10.002","article-title":"Analysis of chromosome 12p over-representation and clinicopathological features in mediastinal teratomas","volume":"51","author":"Lee","year":"2019","journal-title":"Pathology"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/gcc.10053","article-title":"Genetic analysis of mediastinal nonseminomatous germ cell tumors in children and adolescents","volume":"34","author":"Schneider","year":"2002","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1097\/PAS.0000000000001164","article-title":"A Clinicopathologic and Molecular Analysis of 34 Mediastinal Germ Cell Tumors Suggesting Different Modes of Teratoma Development","volume":"42","author":"Kao","year":"2018","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"633","DOI":"10.3109\/08880018.2012.713084","article-title":"Mediastinal germ cell tumors in childhood","volume":"29","author":"Demir","year":"2012","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1200\/JCO.2000.18.4.832","article-title":"Primary mediastinal germ cell tumors in children and adolescents: Results of the German cooperative protocols MAKEI 83\/86, 89, and 96","volume":"18","author":"Schneider","year":"2000","journal-title":"J. Clin. Oncol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1097\/MOP.0b013e32832b41ee","article-title":"Teratomas in infants and children","volume":"21","author":"Barksdale","year":"2009","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1093\/icvts\/ivz328","article-title":"Mediastinal teratoma presenting with respiratory distress and cardiogenic shock in a neonate","volume":"30","author":"Stajevic","year":"2020","journal-title":"Interact Cardiovasc. Thorac. Surg."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"bcr2013201205","DOI":"10.1136\/bcr-2013-201205","article-title":"Congenital anterior mediastinal teratoma causing severe airway compression in a neonate","volume":"26","author":"Bekker","year":"2013","journal-title":"BMJ Case Rep."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s003830000466","article-title":"Life-threatening mediastinal teratoma in a neonate","volume":"17","author":"Kuroiwa","year":"2001","journal-title":"Pediatr. Surg. Int."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1016\/0022-3468(93)90155-E","article-title":"Mediastinal teratomas: Review of 15 pediatric cases","volume":"28","author":"Lakhoo","year":"1993","journal-title":"J. Pediatr. Surg."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/0022-3468(92)90490-X","article-title":"Life-threatening respiratory distress caused by a mediastinal teratoma in a newborn","volume":"27","author":"Mogilner","year":"1992","journal-title":"J. Pediatr. Surg."},{"key":"ref_44","first-page":"270","article-title":"Mediastinalteratom bei einem Neugeborenen [Mediastinal teratoma in a newborn infant]","volume":"136","author":"Kobel","year":"1988","journal-title":"Monatsschr Kinderheilkd."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1055\/s-2003-44731","article-title":"Recurrent immature mediastinal teratoma with life-threatening respiratory distress in a neonate","volume":"13","author":"Upadhyaya","year":"2003","journal-title":"Eur. J. Pediatr. Surg."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/9\/1543\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:52:00Z","timestamp":1760165520000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/9\/1543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,25]]},"references-count":45,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["diagnostics11091543"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics11091543","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,25]]}}}