Background: The increased survival of preterm and very low birth weight infants in recent years has been well documented but continued surveillance is required in order to monitor the effects of new therapeutic interventions. Gestation and birth weight specific survival rates most accurately reflect the outcome of perinatal care. Our aims were to determine survival to discharge for a large Canadian cohort of preterm infants admitted to the neonatal intensive care unit (NICU), and to examine the effect of gender on survival and the effect of increasing postnatal age on predicted survival.

The objective of this study was to describe the congenital anomalies in 17 Canadian neonatal intensive care units (NICUs) and their impact on mortality, morbidity, and resource utilization. This study was performed using a database analysis of 19,507 consecutive admissions. Results show that 13.7% of admissions had one or more anomalies. There was wide variation in incidence between NICUs (4.4 to 36.6%). Congenital anomalies were associated with increased severity of illness, and higher mortality, morbidity, and resource use. Inclusion of congenital anomalies improves mortality prediction in regression analyses models. Congenital anomalies have a significant impact on NICU outcomes and resource use.

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Zellweger syndrome (ZS) is an autosomal recessive peroxisomal disorder that results from mutations in one of the peroxisome biogenesis (PEX) genes. This is the first patient reported with uniparental disomy (UPD) resulting in ZS, in this case maternal isodisomy of chromosome 1 involving reduction to homoallelism of a frameshift mutation within PEX 10. Other reported cases of UPD1, and evidence for the imprinting of genes on chromosome 1, are reviewed. The molecular findings in this patient have important implications for molecular testing and genetic counseling in ZS.