Unusual Longevity of Edwards Syndrome: A Case Report

Abstract

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.

Survival rates and outcomes of pregnancies with prenatal diagnosis of trisomy 18: A 16‐year experience from a public hospital in South Africa

“…It is important for a couple who are given the diagnosis of T18 to be clear about the expectations around survival in order for them to make informed decisions regarding the pregnancy. On the one hand, there are reports, almost exclusively from HIC, of long‐term survival of children with T18, some occasionally reaching the second decade of life, 23 , 24 , 25 which may raise false hopes. On the other hand, the label of a lethal abnormality may raise the idea that the baby will be stillborn or die within minutes of birth.…”

Graphical image of Trisomy Ultrascan related Total edge magic labelling

“…On the 18 chromosome, a researcher named Edwards found an additional genetic material chromosome [11,12]. Trisomy 13 is another name for the chromosomal condition known as Patau syndrome.…”

Trisomy 18: disparities of care and outcomes in the State of Texas between 2009 and 2019

“…3 T18 is associated with several anomalies and neurodevelopmental abnormalities that frequently lead to a poor prognosis with a reported median survival of 6-15 days. 1,3,4 Up to 85% of T18 patients have an associated congenital heart disease (CHD), with the most common cardiac anomalies being atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and multivalvular disease. [5][6][7] Nevertheless, the role of these malformations on early mortality remains controversial.…”