Aneuploidies, chromosome aberrations and dominant gene mutations detected in 113,913 consecutive newborn children in Mexico.

Data on 113,913 liveborn children from a hospital in Guadalajara, Jalisco (Mexico), were analysed for birth defects (BD); mutation rates were calculated for sporadic aneuploidy, chromosome aberrations and dominant gene mutations. The results showed a general incidence of 13.92 BD cases per 1000 liveborns, of which 1.

Reduced levels of uridine diphosphate glucose pyrophosphorylase activity in fetal and neonatal human and guinea pig liver.

Uridine diphosphate glucose pyrophosphorylase (UDPGPP) is the first enzyme in the bilirubin conjugation pathway. A study aiming to screen for red blood cell UDPGPP deficiency in newborns with hyperbilirubinemia was carried out. No individuals with severe UDPGPP deficiency were found, however, levels of UDPGPP in premature and at term newborns were lower than in adults.