Newborn Bloodspot Screening

What is newborn bloodspot screening?

Newborn screening is a critical public health program that tests all babies shortly after birth for a panel of rare but serious health conditions. Often done via a simple "heel prick" blood spot test around five days old, it looks for metabolic, endocrine, and genetic disorders such as Phenylketonuria (PKU), Congenital Hypothyroidism (CHT), Cystic Fibrosis, and Spinal Muscular Atrophy.

Why do we need screening for newborns?

The core purpose is to detect these conditions before the baby shows any outward signs or symptoms. Because many of these disorders cause no visible problems at birth, they would otherwise go unnoticed until severe, often irreversible damage has occurred, saving lives and preventing lifelong disability. For most of the conditions screened, effective treatments - such as a specialised diet, medication, or gene therapy - exist, but they are dramatically more successful if started immediately. For example, if PKU or CHT is left untreated, it can lead to severe intellectual and developmental disabilities. By flagging a high-risk baby within days, the screening program ensures doctors can initiate life-altering treatment in the critical window, transforming a potentially devastating genetic condition into a manageable one, thereby enabling the child to live a healthier, fuller life.