Hielprik_Niet-behandelbare aandoeningen
© Rijksoverheid

Screening early in life for untreatable conditions

The blood spot (‘heel prick’) test is used to screen newborns for rare but serious health conditions. Early detection and treatment can significantly improve their health, and prevent severe disability or even death. There are now calls to consider screening early in life also for untreatable conditions. Early-life screening for untreatable conditions could benefit children and their parents as it reduces the typically long and uncertain period between first symptoms and diagnosis of a rare condition, and helps families prepare for life with a child with a severe and untreatable condition.