Newborn blood spot (NBS) screening has proved to be an invaluable tool for early diagnosis of genetic diseases. It involves checking babies for certain health conditions soon after they are born. The baby’s heel is pricked and drops of blood are collected on a card, which is sent for laboratory tests. This screening allows treatment to start early – potentially preventing serious health issues in later life.
NBS screening started more than 50 years ago, when it was discovered that the inherited condition phenylketonuria (PKU) could be treated with dietary adjustments. PKU causes elevated levels of the amino acid phenylalanine to build up in the body. Phenylalanine is found in the body as part of normal biochemical pathways, but problems, including impaired cognitive development, arise when levels are persistently higher than normal. Newborns with PKU, and parents who are carriers, show no symptoms, hence the benefit of screening that reveals the condition (see Box 1).
Your organisation does not have access to this article.
Sign up today to give your students the edge they need to achieve their best grades with subject expertise
Subscribe
