2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Causes of death and associated factors in patients with trisomy 18 syndrome and long-term survival

Pdf Summary

The study analyzed the causes of death in patients with trisomy 18, a genetic disorder that is characterized by multiple congenital malformations and an increased mortality rate in infancy. The study included a retrospective cohort of 174 patients with full trisomy 18, making it the largest study of its kind. <br /><br />The analysis found several factors associated with mortality in patients with trisomy 18, including prenatal diagnosis of trisomy 18, postpartum respiratory distress, maternal age over 35 years, low birth weight, central nervous system defects, septal defects, gastrostomy tube placement, and failure to meet sitting and rolling milestones after the age of 1 year.<br /><br />When comparing the cause of death between trisomy 18 patients over 1 year old in the current study and a previous study, there was a decrease in cardiac contributing causes of death and an increase in infectious and postoperative contributing causes of death in the current study.<br /><br />The study highlights the unique medical needs of long-term trisomy 18 survivors and suggests the need for further research to develop comprehensive health supervision guidelines for this population.<br /><br />Overall, the study provides valuable insights into the causes of death and associated factors in patients with trisomy 18 beyond infancy, contributing to a better understanding of the long-term outcomes for individuals with this condition.

Asset Subtitle

Presenting Author - John C. Carey, MD; Co-Author - Jannine D. Cody; Co-Author - Justin Mehl, medical student; Co-Author - Jonathan gelfond, PhD;

Meta Tag

Chromosomal Abnormalities

Clinical Cytogenetics

Natural History

Co-Author Jannine D. Cody

Co-Author Justin Mehl, medical student

Co-Author Jonathan gelfond, PhD

Presenting Author John C. Carey, MD

Keywords

trisomy 18

genetic disorder

mortality rate

retrospective cohort

prenatal diagnosis

respiratory distress

maternal age

central nervous system defects

gastrostomy tube placement

long-term outcomes