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Why, how and when are patients with Chromosomal anomalies hospitalized?
Manuel Gonçalves-Pinho1,2,, , João Vasco Santos1,2, Sílvia Fernández1, Micaela Gregório1, Carla Pinto Moura3,4, Alberto Freitas1,2
1 Department of Community Medicine, Information and Health Decision Sciences (MEDCIDS), Faculty of Medicine, University of Porto, Rua Dr. Plácido da Costa, s/n, 4200-450 Porto, Portugal
2 Center for Health Technology and Services Research (CINTESIS), Rua Dr. Plácido da Costa, s/n, 4200-450 Porto, Portugal
3 Department of Human Genetics, Faculty of Medicine, University of Porto/Centro Hospitalar São João, Porto, Portugal
4 Institute for Research and Innovation in Health/Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal

Aim: We aim to describe Chromosomal anomalies (CA) related hospitalizations characteristics and specific trends in order to understand why, how and when are these patients hospitalized.

Introduction: CA affect approximately 2% of the world population.1 Due to this low prevalence not many studies regarding hospitalizations are available in this set of conditions. Hospitalizations represent an overall health and prognosis indicator that may allow the implementation of specific health care policies regarding prevention measures to avoid CA-related hospitalizations.

Methods: A retrospective observational study was performed using a national hospitalization database that gathers all public hospital admissions between 2000 and 2014. CA were selected based on codes 758.0× to 758.7× codified by the International Classification of Diseases – 9th Revision – Clinical Modification. Birth date, sex, charges, admission/discharge date, discharge status, primary/secondary diagnoses were analyzed for each specific CA.

Results: CA related hospitalizations accounted for 0.08% of all the hospitalizations. Down syndrome represented 75.9% of all CA-related hospitalizations and 80.2% (approximately 30M€) 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 live birth 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€.

Conclusion: CA hospitalizations have high mean charges per hospitalization, high length of stay and high in-hospital mortality. Down syndrome accounts for the majority of CA hospitalizations, representing the CA with higher economic burden in the health system. Klinefelter syndrome hospitalizations occur at a younger age than the described mean age of diagnoses in all Klinefelter syndrome patients, a novel finding not previously described.

Acknowledgements: We thank ACSS for providing the data on hospitalizations registered on public hospitals. Fernando Lopes, MD, for his support in the design of the study and João Paulo Oliveira, MD PhD, for his valuable insight regarding genetic epidemiology. We also thank project “NORTE-01-0145-FEDER-000016” (NanoSTIMA) that is financed by the North Portugal Regional Operational Programme (NORTE 2020), under the PORTUGAL 2020 Partnership Agreement, and through the European Regional Development Fund (ERDF).

D.L. Rimoin
Nature and frequency of genetic disease
Emery and Rimoin's principles and practice of medical genetics, (2002)pp. 55-59

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