Objective Neonatal encephalopathy (NE) is a serious condition, primarily seen following hypoxia-ischemia. Different patterns of brain injury can be recognised following perinatal hypoxia-ischemia (HI). Whether these patterns of injury can be attributed to different associated risk factors still needs to be established.
Aim To identify the association of antenatal, perinatal and thrombophilic risk factors in infants with NE following HI with pattern of brain injury.
Methods In 110 infants with clinical signs of NE following perinatal HI, thrombophilic factors were prospectively investigated. These included factor V Leiden and prothrombin gene mutation, C677T and A1298C polymorphisms in the MTHFR gene and plasma levels of homocysteine and lipoprotein(a). Antenatal and perinatal variables were studied.
Results White matter/watershed injury was seen in 44 infants (40%), basal ganglia/thalamus injury in 34 (31%) and normal neuro-imaging in 32 infants (29%). Antenatal factors did not differ across the different patterns of injury. The basal ganglia/thalamus pattern was associated with emergency Cesarean section. White matter/watershed pattern was associated with hypoglycaemia (< 2.0 mmol/L) (OR 5.3; 1.6–17.8 (95% CI)), CT or TT 677 polymorphism in the MTHFR gene and plasma homocysteine levels in the upper quartile (OR 2.9; 1.01–8.4 (95% CI)) compared to the no injury group.
Conclusion Across three patterns of injury in infants with NE following perinatal HI, predominant white matter/watershed pattern was associated with hypoglycaemia, the MTHFR 677CT or TT genotype, and higher levels of plasma homocysteine. Basal ganglia/thalamus injury showed an association with signs suggestive for more severe, acute HI.