BMC Pediatr. 2025 Dec 3. doi: 10.1186/s12887-025-06373-2. Online ahead of print.
ABSTRACT
BACKGROUND: Genetic disorders are recognized as key contributors to morbidity, mortality, and congenital anomalies in term infants. However, the rates of diagnosis and association with morbidity, mortality, and congenital anomalies in preterm infants are poorly characterized. We sought to determine rates of diagnosis of genetic disorders in preterm infants and to define the association of genetic disorders with morbidity, mortality, and congenital anomalies.
METHODS: This was a multicenter observational cohort study conducted in neonatal intensive care units in the Pediatrix Clinical Data Warehouse. Infants born from 23 to 0/7 to 33 and 6/7 weeks of gestation, admitted to 374 U.S. community and academic neonatal intensive care units from 2000 to 2020 were included. Infants transferred after birth or prior to discharge were excluded. We analyzed diagnosis of genetic disorders; predischarge morbidity (including acute kidney injury, bronchopulmonary dysplasia, necrotizing enterocolitis, sepsis, shock, severe retinopathy, and intracranial hemorrhage); mortality; and presence of congenital anomalies.
RESULTS: Among 323,770 early preterm infants analyzed, 4,196 (1.3%) were diagnosed with one of twenty genetic disorders. Single gene disorders were identified in 2,250 (0.7%) infants, copy number variants in 88 (0.03%) infants, and aneuploidies in 1,885 (0.6%) infants. Morbidity, mortality, and congenital anomalies occurred in 1,319 (31.4%), 566 (13.5%), and 1,041 (24.8%) infants with genetic disorders compared to 77,957 (24.5%), 15,240 (4.7%), and 9,455 (3.0%) infants without genetic disorders. Common aneuploidies accounted for most of these associations. However, morbidity, mortality, and congenital anomalies were also significantly more common in early preterm infants with single gene disorders and pathogenic copy number variants. We did not detect meaningful differences in diagnostic rates of genetic disorders over the study period.
CONCLUSIONS: 1.3% of early preterm infants were diagnosed with genetic disorders. Genetic disorders were strongly associated with morbidity, mortality, and congenital anomalies. Clinicians should strongly consider genetic evaluation in early preterm infants with morbidity, mortality, or congenital anomalies. Prospective research is needed to determine the true prevalence of genetic disorders in this high-risk population.
PMID:41331421 | DOI:10.1186/s12887-025-06373-2
