Management of newborn babies in whom serious metabolic illness is anticipated.

The problem under discussion is best described by an illustrative example. A woman was referred for advice and management midway through her fourth pregnancy. She had one healthy son, her third born. Her first two babies (1 male, 1 female) had both died on the third day of life. Each had seemed normal at birth, but had become drowsy on the second day and then unconscious. She had already decided that there must be a high risk of a similar occurrence in this pregnancy, but she wanted the pregnancy to continue whatever the risk. She hoped we might be able to diminish the risk by some means. Autosomal recessive inheritance of some metabolic disease was suspected. Informnation about the babies who died revealed only that they did not die of hypoglycaemia, hypocalcaemia, cerebral haemorrhage, or gross cerebral malformation. The task set us by this woman was therefore the management of a newborn baby who was believed to have a 1 in 4 risk of suffering from a rapidly fatal inborn error of metabolism of unknown type. This clinical problem confronts our unit two or three times each year and this paper describes the plan of management developed. The unit has been working on inborn errors of metabolism for the last 3 years. Though we are primarily interested in searching for new inborn errors, we also provide a diagnostic service for the known inborn errors in the State of Victoria (75,000 births per year). The laboratories are situated in the Royal Children's Hospital, which cares for about 80% of severe childhood illness in the state. There is a close liaison with the Royal Women's Hospital (9000 deliveries per year) and the Queen Victoria Hospital (6000 deliveries per year).