{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:26:50Z","timestamp":1760239610591,"version":"build-2065373602"},"reference-count":16,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T00:00:00Z","timestamp":1607299200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Trisomy 18, also known as Edwards syndrome, was first described in the 1960s and is now defined as the second most common trisomy. While this genetic disease has been attributed to nondisjunction during meiosis, the exact mechanism remains unknown. Trisomy 18 is associated with a significantly increased mortality rate of about 5\u201310% of patients surviving until 1 year of age. We present a case of a 26-year-old female diagnosed with trisomy 18, well outliving her life expectancy, maintaining a stable state of health. Case Presentation: A 26-year-old female with non-mosaic Edwards syndrome presented to the clinic for follow up after recent hospitalization for aspiration pneumonia. The definitive diagnosis of trisomy 18 was made prenatally utilizing chromosomal analysis and G-banding and fluorescence in situ hybridization (FISH) on cells obtained via amniocentesis. Her past medical history is characterized by severe growth and intellectual limitations; recurrent history of infections, especially respiratory system infections; and a ventricular septal defect (VSD) that was never surgically repaired. She remains in good, stable health and is under close follow-up and monitoring. Conclusions: Despite the fact that Edwards syndrome carries a significantly high mortality rate due to several comorbidities, recent literature including this case report has identified patients surviving into adulthood. Advancements in early detection and parent education have likely allowed for these findings. We aim to present a case of an adult with trisomy 18, living in stable condition, with an importance on medical follow-up.<\/jats:p>","DOI":"10.3390\/genes11121466","type":"journal-article","created":{"date-parts":[[2020,12,8]],"date-time":"2020-12-08T11:50:49Z","timestamp":1607428249000},"page":"1466","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Unusual Longevity of Edwards Syndrome: A Case Report"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0726-3498","authenticated-orcid":false,"given":"Abbas","family":"Alshami","sequence":"first","affiliation":[{"name":"Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5006-828X","authenticated-orcid":false,"given":"Steven","family":"Douedi","sequence":"additional","affiliation":[{"name":"Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Guida","sequence":"additional","affiliation":[{"name":"Department of Biology, Ramapo College of New Jersey, Mahwah, NJ 07430, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firas","family":"Ajam","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhaval","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Zales","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dawn M","family":"Calderon","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/S0140-6736(60)90675-9","article-title":"A new trisomic syndrome","volume":"1","author":"Edwards","year":"1960","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2457","DOI":"10.3892\/mmr.2016.4806","article-title":"Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments","volume":"13","author":"Imataka","year":"2016","journal-title":"Mol. Med. Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/1750-1172-7-81","article-title":"The trisomy 18 syndrome","volume":"7","author":"Cereda","year":"2012","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1002\/ajmg.1320490204","article-title":"Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk","volume":"49","author":"Baty","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/ajmg.1320490203","article-title":"Survival in trisomy 18","volume":"49","author":"Root","year":"1994","journal-title":"Am. J. Med. 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A"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1741-4520.2007.00158.x","article-title":"Dandy-Walker syndrome and chromosomal abnormalities","volume":"47","author":"Imataka","year":"2007","journal-title":"Congenit. Anom."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.12688\/f1000research.9215.1","article-title":"Recent advances in prenatal genetic screening and testing","volume":"5","year":"2016","journal-title":"F1000Research"},{"key":"ref_16","first-page":"76","article-title":"Trisomy 18 syndrome: Towards a balanced approach","volume":"14","author":"Batees","year":"2014","journal-title":"Sudan. J. Paediatr."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1466\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:42:03Z","timestamp":1760179323000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,7]]},"references-count":16,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["genes11121466"],"URL":"https:\/\/doi.org\/10.3390\/genes11121466","relation":{},"ISSN":["2073-4425"],"issn-type":[{"type":"electronic","value":"2073-4425"}],"subject":[],"published":{"date-parts":[[2020,12,7]]}}}