About this trial
Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.
Eligibility criteria
Qualifiers
Age: infant/newborn less than 18 months
Admitted to intensive care unit
At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology
Multiple birth defects
Disqualifiers
Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing
Confirmed genetic diagnosis explains illness
Lack of consent: Families who do not consent to genetic testing or data sharing.
Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.
Trial design
Treatments tested in this trial
- Genetic study with nanopore sequencing