Unusual Longevity of Edwards Syndrome: A Case Report
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 signifi...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-12-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/12/1466 |
| _version_ | 1797545477558763520 |
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| author | Abbas Alshami Steven Douedi Melissa Guida Firas Ajam Dhaval Desai Vincent Zales Dawn M Calderon |
| author_facet | Abbas Alshami Steven Douedi Melissa Guida Firas Ajam Dhaval Desai Vincent Zales Dawn M Calderon |
| author_sort | Abbas Alshami |
| collection | DOAJ |
| description | 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 5–10% 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. |
| first_indexed | 2024-03-10T14:15:59Z |
| format | Article |
| id | doaj.art-d80bf5612061411c849b5d8c8057dd8a |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T14:15:59Z |
| publishDate | 2020-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-d80bf5612061411c849b5d8c8057dd8a2023-11-20T23:47:59ZengMDPI AGGenes2073-44252020-12-011112146610.3390/genes11121466Unusual Longevity of Edwards Syndrome: A Case ReportAbbas Alshami0Steven Douedi1Melissa Guida2Firas Ajam3Dhaval Desai4Vincent Zales5Dawn M Calderon6Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ 07753, USADepartment of Medicine, Jersey Shore University Medical Center, Neptune, NJ 07753, USADepartment of Biology, Ramapo College of New Jersey, Mahwah, NJ 07430, USADepartment of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USADepartment of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USADepartment of Pediatrics, Jersey Shore University Medical Center, Neptune, NJ 07753, USADepartment of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 07753, USABackground: 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 5–10% 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.https://www.mdpi.com/2073-4425/11/12/1466trisomy 18Edwards syndromegenetic screeningchromosomekaryotype |
| spellingShingle | Abbas Alshami Steven Douedi Melissa Guida Firas Ajam Dhaval Desai Vincent Zales Dawn M Calderon Unusual Longevity of Edwards Syndrome: A Case Report Genes trisomy 18 Edwards syndrome genetic screening chromosome karyotype |
| title | Unusual Longevity of Edwards Syndrome: A Case Report |
| title_full | Unusual Longevity of Edwards Syndrome: A Case Report |
| title_fullStr | Unusual Longevity of Edwards Syndrome: A Case Report |
| title_full_unstemmed | Unusual Longevity of Edwards Syndrome: A Case Report |
| title_short | Unusual Longevity of Edwards Syndrome: A Case Report |
| title_sort | unusual longevity of edwards syndrome a case report |
| topic | trisomy 18 Edwards syndrome genetic screening chromosome karyotype |
| url | https://www.mdpi.com/2073-4425/11/12/1466 |
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