Detection and impact of genetic disease in a level IV neonatal intensive care unit

J Perinatol. 2022 May;42(5):580-588. doi: 10.1038/s41372-022-01338-0. Epub 2022 Feb 18.


Objective: To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care.

Study design: We divided 2703 neonates, admitted between 2013 and 2016 to a level IV NICU, into two epochs and determined how genetic testing utilization, genetic diagnoses identified, and cost of NICU care changed over time.

Result: The increasing use of multi-gene panels 104 vs 184 (P = 0.02) and whole exome sequencing (WES) 9 vs 28 (P = 0.03) improved detection of genetic disease, 9% vs 12% (P < 0.01). Individuals with genetic diagnoses had higher mean NICU charges, $723,422 vs $417,013 (P < 0.01) secondary to longer lengths of stay, not genetic services.

Conclusion: The increased utilization of broad genetic testing improved the detection of genetic disease but contributed minimally to the cost of care while bolstering understanding of the patient's condition and prognosis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Exome Sequencing
  • Genetic Testing*
  • Hospitalization
  • Humans
  • Infant, Newborn
  • Intensive Care Units, Neonatal*