N-Care Project: Enhancing Asian-Pacific Collaboration

A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.

Inclusion criteria

• 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
• Single major malformation that required intervention (surgery or medication)
• Significantly abnormal EKG
• Significant hypotonia

B. Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:

• Recurrent severe infection events
• Recurrent or prolonged seizures
• Unexplained cardiopulmonary resuscitation (CPR)
• Suspect inborn error of metabolism

Exclusion criteria

• 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.