At a glance
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Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
In Brief
An observational study evaluating Genetic analyse by whole exome sequencing for Infant, Newborn, Diseases and 3 related conditions. Completed, enrolled 45 participants across 1 site.
Detailed Summary
An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic counseling. However, etiologies are various and each of them is individually very rare. Thanks to next-generation sequencing technologies, diagnosis time frames have drastically decreased and the investigators have observed an increase in diagnosis yields. This study aims to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and the consultation for results to the parents) in infants under the age of 12 months hospitalized in Intensive Care Unit (ICU).
Study Details
Timeline
Interventions
Exome sequencing requires analytic, bio informatic and interpretation steps.