Newborn Screening BC currently screens for 27 rare but treatable disorders on the blood spot card panel.
The disorders are grouped into main 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.
SCID is a group of rare inherited diseases that affect the immune system. Babies with SCID have difficulty fighting infections, or germs. Symptoms can appear early in the first months of life and can include frequent infections and poor growth. Serious health problems and life-threatening infections can be prevented through early treatment.
Spinal Muscular Atrophy (SMA)
SMA is a rare inherited disorder that affects the nerves in the spinal cord that send signals to the muscles. When these nerves do not work, muscles can not do their job and become very weak. People with SMA may have difficulty walking, eating and breathing because of muscle weakness. New treatments are now available for SMA which, if treated early, can slow or even stop the progression of SMA.