Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients

Purpose: Children with neonatal intensive care unit (NICU) admission have higher rates of genetic disease, but it is unclear which patients should have genetic testing. Our goal was to identify clinical predictors associated with a pathogenic genetic result in NICU infants. Methods: This was a retrospective, population-based cohort analysis of infants born between January 1, 2009 and June 30, 2011 with a history of NICU admission and subsequent follow-up and genetic testing through 2021. Results: A total of 99 infants met inclusion criteria. In total, 64 (65%) patients had a negative genetic test result; 35 (35%) had a positive (pathogenic) result. Lower birthweight, younger gestational age, longer length of stay, or 2 or more indicators of severe illness were associated with a pathogenic result. Conclusion: Our work suggests that clinical predictors can be used to guide genetic testing in NICU infants. Use of these clinical risk factors could provide a diagnostic care pathway, potentially shortening the diagnostic odyssey and reducing potential morbidities.