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Abstract

Background: Trisomy 18 is an aneuploidy that has historically been associated with early mortality However, recently parents of children with complex conditions are more often pursuing life-prolonging medical interventions. The increasing use of neonatal intensive care has led to longer lifespans in infants affected by trisomy 18, allowing for later complications to emerge. While many comorbidities have been reported in the literature, tethered cord has rarely been reported in this population. This study examines the potential relationship between trisomy 18, tethered spinal cord, and related urinary tract complications. Methods: A retrospective chart review of subjects admitted to a single quaternary academic medical center with trisomy 18 receiving resuscitative care from 2014-2024 was performed. Charts were analyzed for spinal, bladder, and renal imaging, and for radiographic concern for tethered cord. Clinical outcomes were reviewed, including urinary tract infections and other findings concerning for neurogenic bladder. Results: Ten live-born subjects with trisomy 18 who received initial intensive care were included. The cohort had a mean lifespan of approximately 151 days. Three subjects (30%) received spinal imaging, and all three had radiographic evidence of spinal cord tethering. Six subjects (60%) were diagnosed with urinary tract infections during their initial hospital stay, substantially higher than reported neonatal intensive care unit prevalence rates. Conclusions: These results indicate a potentially increased risk of urinary tract infections among patients with trisomy 18. When caring for this population, clinicians should be aware of the possible presence of pathophysiologic mechanisms that are not yet well-documented, including neurogenic bladder and a tethered cord.

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