Evaluation of a state-wide neonatal screening programme

Abstract

A screening programme which was already established to detect phenylketonuria in the newborn period in South Australia was extended to include screening for galactosaemia, homocystinuria, hereditary tyrosinaemia, histidinaemia, maple syrup urine disease and severe alpha 1-antitrypsin deficiency for a trial period. Later, screening for hypothyroidism was introduced. Results suggest that screening for galactosaemia and hypothyroidism are useful additions to the programme. Screening for trrosinaemia and alpha 1-antitrypsin deficiency produced a high number of requests for repeat samples, causing anxiety and no positive benefit to patients. Homocystinuria, an eminently treatable condition, was not detected, nor was maple syrup urine disease, a much less readily treatable condition. Histidinaemia was detected only once. Screening for tyrosinaemia, alpha 1-antitrypsin deficiency, maple syrup urine disease and histidinaemia has been discontinued. Newborn screening in South Australia currently includes tests for phenylketonuria, hypothydroidism, galactosaemia and homocystinuria.