Medical Genetics & Genetic Counseling

newborn screening

Newborn screening is a quiet public-health success: in the first days of life, a few drops of a baby’s blood are tested for a set of serious but treatable conditions. The idea is simple and powerful — catch a hidden disorder before it causes harm, while early treatment can still change the outcome.

Classic targets are inborn errors of metabolism such as phenylketonuria, where a strict diet started early prevents brain damage that would otherwise be irreversible. Modern panels also include certain endocrine, blood, and immune disorders, varying by country and region.

The defining principle is actionability: a condition is screened mainly when finding it early lets doctors do something useful. A positive screen is a flag, not a diagnosis, and is always confirmed by further testing before treatment begins.

A heel-prick test flags elevated phenylalanine; confirmatory testing diagnoses phenylketonuria, and a special diet begun within weeks prevents intellectual disability.

Screening at birth turns a future disability into a manageable condition.

Also called
heel-prick test足跟血筛查腳跟血篩檢