Further study is needed into neonatal screening

Scientists have called for further investigation into the costs and benefits of extending national newborn screening programmes.

For a study, published in Orphanet Journal of Rare Diseases, the scientists used analytical chemistry methods to determine the efficacy and outcomes of expanded newborn screening for metabolic diseases.

The team used data collected from observational study over ten years, from January 1st 1999 to June 30th 2009, and found 373 cases with confirmed diagnosis of a metabolic disorder from a total group of 1,084,195 neonates.

Scientists discovered that early diagnosis provided the optimal outcome for children with metabolic disorders, particularly those with medium-chain acyl-CoA dehydrogenase deficiency.

However, they found that later decompensation may not be completely prevented despite pre-symptomatic treatment.

"Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two," the scientists noted.

In conclusion of the study, the team suggested that much more investigation is needed into more intensive national newborn screening to discover the likely benefits, harms and costs in different populations.