(Abstracted from JAMA Network Open 2024;7(2):e240146 A large portion of mortality in neonatal intensive care units (NICUs) can be attributed to genetic disorders and/or birth defects; often, diagnosis of specific disorders can be difficult due to overlapping symptomology and insufficient sensitivity of tests for this age group. Next-generation sequencing has the potential to provide precision diagnosis that will assist in prognosis, lifesaving therapy, and palliative care decisions and has been shown to be highly accurate.
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Marom et al. (2024) studied this question.
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