The BC Newborn Screening Program currently screens for 22 rare but treatable disorders. An additional disorder, guanidinoacetate methyltransferase (GAMT) deficiency, was screened in a pilot study.
The 22 disorders fall into four categories:
- Metabolic Disorders
When the body is not able to break down certain substances in food like fats, proteins, or sugars. Substances can build up in the body and cause serious health problems, which can usually be prevented with early treatment.
- Endocrine Disorders
Babies whose hormone glands make too little of certain hormones. They can receive hormones to replace the ones their bodies cannot make, which can help prevent growth problems, mental handicap, and serious health problems, such as shock or sudden unexpected death.
- Blood Disorders
When the part of the red blood cell that carries oxygen throughout the body is different than usual. This part of the red blood cell is also called hemoglobin. Serious health problems can be prevented through medicines and special treatments.
- Cystic Fibrosis (CF)
Causes thick mucus to build up in the lungs, digestive system, and other organs. Most people with CF get chest infections. They also have problems digesting their food and, as a result, they may not gain weight as well as they should. Early treatment can be started with medicines and physical therapy. This helps babies with cystic fibrosis digest food and keep their lungs clear of mucus.