Neonatal screening: current trends and quality control in the United Kingdom

Neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CHT) is universal across the UK using heel prick blood collected at 6-14 days of age. Additional programmes for sickle cell disorders, cystic fibrosis, Duchenne muscular dystrophy and galactosaemia are provided in some areas. The number of inherited metabolic disorders (IMDs) has greatly increased since the introduction of PKU screening, and there have been major advances in treatment, e.g. organ transplantation, drug therapy. Recent developments in technology have expanded the possibilities for screening using the heel prick blood specimen, particularly the application of tandem mass spectrometry. There is a case for introducing tandem mass spectrometry, limited to clearly defined diseases where specificity is adequate and there are satisfactory diagnostic tests. Any change in newborn screening to a much broader group of disorders must be carefully introduced and monitored preferably as a pilot study. A key component of a laboratory screening service is quality control. There are well established UK programmes for PKU and CHT. Consideration of the needs for other disorders is now an important priority.