Manuel Gonçalves-Pinho1, Alberto Freitas1
1Center for Health Technology and Services Research (CINTESIS)
Aim: Chromosomal anomalies (CA) hospitalizations represent an overall health and prognosis indicator. We aim to describe CA related hospitalizations burden, characteristics and specific trends as possible indicators of genetic diseases epidemiology.
Methods: A retrospective observational study was performed using a national hospitalization database between 2000 and 2014. CA were selected based on codes 758.0x to 758.7x codified by the International Classification of Diseases – 9th Revision – Clinical Modification. Birth date, gender, charges, admission/discharge date, discharge status, primary/secondary diagnoses were analyzed.
Results: CA related hospitalizations accounted for 0.08% of all the hospitalizations. Down’s syndrome represented 75.9% of all CA-related hospitalizations and 80.2% of all the charges attributed to CA related hospitalizations. The median age of CA-related patients was 9.0 years old. The leading causes of hospitalization in different CA varied between pneumonia (3.6-18.6%) and livebirth related diagnoses (7.9-52.5%). Mean number of hospitalizations ranged from 1.0 to 2.1 per patient and mean charges per hospitalization varied from 2,339 to 4,520 €.
Discussion: CA represent a substantial burden on the health system with high mean charges per hospitalization, high length of stay and high in-hospital mortality. Down’s syndrome accounts for the majority of CA hospitalizations. Klinefelter’s syndrome hospitalizations occur at a younger age than the described mean age of diagnoses in all Klinefelter’s syndrome patients.
keywords: Chromosome Aberrations, Chromosome Disorders, Genetic Epidemiology, Hospitalization, Cost Analysis, Observational Study