PP02.3 – 2478: Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns

Objective High plasma homocysteine (Hcy) levels and, C677T and A1298C MTHFR polymorphysms, have been reported in preterm or full term newborns with neonatal encephalopathy following an hypoxic-ischemic insult. Beyond the well-defined pattern of white matter injury such as periventricular leukomalacia, several qualitative neonatal white matter abnormalities (WMA) may account for different degrees of neurobehavioral impairment at long-term observation, either in very preterm or full term infants. Environmental factors may contribute to WMA. We assessed the causal role of Hcy and MTHFR polymorphisms together with acquired risk factors on the occurrence of WMA detected by cranial ultrasound scans (cUS) in a population of late preterm and full term infants. Methods Newborn infants were recruited at the Intensive Care Unit of University Hospital of Messina. Antenatal, perinatal and neonatal details were obtained. Hcy levels were assessed in whole blood within the first week of life. The assessment of C677T and A1298C MTHFR genotypes was carried out. Cerebral ultrasound was performed to all newborns from 1 to 3 days of life and 44 postmenstrual age. Results 171 newborns (81 M, 47.4%), 45 (26.3%) born Conclusion Hcy and MTHFR polymorphisms significantly predisposed to WMA, either full-term or late preterm newborns, in our study. However, WMA was also significantly associated to acquired factors as GA and perinatal status, measured by Apgar scores. The role of A1298C polymorphism might be taken into account for prenatal assessment and treatment counseling.