Recent data indicate that 99.3% of the newborn babies in Wales were screened for serious but rare medical conditions in 2017/2018. The findings were published in the second annual report from Newborn Bloodspot Screening Wales. 31,932 babies were screened between April 2017 to March 2018.
This screening programme from Public Health Wales (PHW) offers screening for 39 serious conditions to all eligible Welsh babies on day 5 after birth. A small test sample of blood is drawn from the baby’s heel on day 5 after birth and screened for rare but serious diseases. With early intervention, the mortality and/or morbidity associated with some of these conditions may be improved. Some of the conditions screened are:
- Congenital hypothyroidism
- Cystic fibrosis
- Inherited metabolic disorders:
- Medium-chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
- Sickle cell disorders
Ruth Lawler, Head of Maternal and Child Screening at PHW, said: "The programme is integral to the early identification of babies who may have rare but serious conditions, which in turn ensure that they can receive the early and specialist care and treatment they require."
