Resumen

BERNAL, Ana Clara  y  EIROA, Hernán. Late-diagnosed phenylketonuria. Salud(i)ciencia [online]. 2017, vol.22, n.6, pp.518-524. ISSN 1667-8682.

Abstract Introduction: Numerous studies in the literature discuss the prevalence and etiology of reported birth defects, and include mortality analyses that focus on the contribution of these conditions to perinatal and infant death rates. Very few of these studies focus on the survival of those affected. This study aims to describe survival during the first year in a group of children with birth defects. Methodology: A cohort study with an internal control group was conducted, and retrospective and prospective information was gathered. The subject pool for the study was obtained from a surveillance registry of birth defects in a high complexity clinical institution in the city of Cali. The data were analyzed by the Kaplan-Meier method to determine the probability of survival. Results: This study showed that the probability of survival during gestation ranged from 98.4 % at week 20 to 79.0% during the first 24 hours after birth. The subgroup of patients who survived the first day after birth had a mean survival probability of 91.7%. Conclusion: The survival of patients affected with birth defects decreases with the passage of time (19.4% until the first 24 hours after birth), however due to limitations in sample size and follow-up, the survival pattern could not be explained in terms of type of birth defect, gestational history, parents' social context or health care system.

Palabras clave : early discharge; intellectual disabilities; newborn screening; phenylalanine; phenylketonuria.

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