Newborn Screening Translational Research Network (NBSTRN): Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT2)

Inclusion Criteria:
Acutely ill inpatients, male or female, less than 4 months of age:
Within 96 hours of admission
Within 96 hours of development of an abnormal response to standard therapy for an underlying condition
Within 96 hours of development of clinical feature or laboratory test value suggestive of a genetic condition
Biological relative of an infant enrolled in this study
Exclusion Criteria:
Inpatients of greater than 4 months of age, or who do not meet any of the inclusion criteria, or with:
Neonatal infection or sepsis with normal response to therapy
Isolated prematurity
Isolated unconjugated hyperbilirubinemia
Hypoxic ischemic encephalopathy with clear precipitating event
Previously confirmed genetic diagnosis that explains their clinical condition (i.e. have a positive genetic test)
Isolated Transient Neonatal Tachypnea
Permission is unable to be obtained by a legal guardian or court-appointed representative within 96 hours of becoming eligible for enrollment
Non-viable neonates - newborns less than 28 days of life with a modified code status (only full code patients may be enrolled)]]>
Actual Study Start Date: June 29, 2017
Actual Primary Completion Date: October 9, 2018
Estimated Study Completion Date: August 30, 2021]]>