Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study

Conclusions: Genetic disorders were suspected in 13% of the cohort, but only confirmed in 5%. Most received their genetic diagnosis in the post-neonatal period. Extrapolation of the diagnostic yield suggests that up to 6% of our cohort may have remained genetically undiagnosed. Our data show the need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management.What is Known:• Genetic disorders are suspected in many neonates but only genetically confirmed in a minority.• The presence of a genetic disorder can be easily missed and will often lead to a diagnostic odyssey requiring extensive evaluations, both clinically and genetically.What is New:• Different aspects of the clinical features and uptake of genetic test in a NICU cohort.• The need to improve genetic care in the NICU for more inclusive, earlier, and faster genetic diagnosis to enable tailored management.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research