The Newborn Screening Program encourages all patients to discuss any concerns they have regarding newborn screening results with their health care provider or with follow-up staff at the Newborn Screening Program.
Special Considerations for Transfused Infants (PDF)
List of Pediatric Endocrinologists (PDF)
Biotinidase Deficiency (BIO)
Babies with biotinidase deficiency cannot reuse the vitamin biotin. This disorder can lead to seizures, developmental delay, eczema and hearing loss. These problems can be prevented if treated early with biotin supplements.
This disorder occurs in about 1 in every 60,000 births in Washington State.
Biotinidase Deficiency General Overview (PDF)
* Genetics Home Reference - General Information on BIOT
* Genetics Home Reference - Family Support Sites - BIOT Support Sites for Families
* Biotinidase Deficiency Support Group - Biotinidase Deficiency Family Support Group Website
* Gene Review - Comprehensive Information on Biotinidase Deficiency
Cystic Fibrosis (CF)
Babies with cystic fibrosis have a defective gene that causes recurring lung infections, malnutrition, and a short lifespan. Early detection and treatment can improve growth and development, and decrease risk of infections and other complications.
This disorder occurs in about 1 in every 5,000 births in Washington State.
Diagnostic and Clinical Resources for CF (PDF)
* Cystic Fibrosis Foundation - General CF Information
* Cystic Fibrosis Foundation - Newborn Screening - CF - Newborn Screening: Info for New Parents
* Medline Plus - CF Information with Links to Other Sites
Babies with this disorder cannot digest galactose, a sugar present in milk. This can cause blindness, mental retardation, or death. A special diet without milk products (including breast milk) can prevent brain and liver damage.
This disorder occurs in about 1 in every 40,000 births in Washington State.
Galactosemia General Overview (PDF)
Mild Galactosemia General Overview (PDF)
* Parents of Galactosemic Children - National Support Organization
* Gene Review - Comprehensive Galactosemia Information
Sickle cell disease and other hemoglobinopathies are inherited disorders that affect red blood cells. Sickle Cell disease can cause severe pain, frequent infections, and sometimes death. Treating infants with the disorder with antibiotics can greatly lower the risk of infections and other problems. Some infants have a hemoglobin trait, which means they do not have the disease, but their children could inherit it.
These disorders occur in about 1 in every 10,000 births in Washington State.
Learn more on the Hemoglobinopathies webpage.
Severe Combined Immunodeficiency (SCID)
Babies with severe combined immunodeficiency are unable to make certain cells that protect their body from infection. Untreated, infants acquire life-threatening infections from bacteria, viruses, and fungi. A bone-marrow transplant early in life can cure a child of the condition.
This disorder occurs in about 1 in 45,000 birth in Washington State.
* Immune Deficiency Foundation – General SCID Information
Spinal muscular atrophy (SMA)
Babies with SMA lose motor nerve cells in their spinal cord. When these cells cannot send messages to the muscles, they no longer work. SMA can be mild or severe. Without treatment, SMA can cause missed motor milestones, difficulty breathing or eating, or even death.
SMA occurs in about 1 in every 15,000 births.
*First Test – Resources for parents and health care professionals about SMA screening
*Cure SMA – A resource dedicated to supporting research and families, as well as increasing public and professional awareness of SMA disorders
*Muscular Dystrophy Association – A resource dedicated to supporting research and families, as well as increasing public and professional awareness of SMA disorders
*Genetics Home Reference – Technical summary of SMA
X-linked Adrenoleukodystrophy (X-ALD)
X-ALD is an inherited disorder that can manifest in early childhood, adolescence or adulthood. This disorder is caused by a buildup of fatty acids in tissues and organs of the body. These fatty acids can affect the nervous system and adrenal glands leading to poor performance in school, other behavioral problems, muscle weakness, hearing loss, blindness, and death. Early identification through screening and treatment with stem cell transplant can stop disease progression.
X-ALD occurs in about 1 in every 42,000 boys. Screening programs identify some girls as carriers of an X-ALD mutation who may develop mild symptoms as adults.
*Baby's First Test – Resources for parents and health care professionals about X-ALD screening
*National Organization for Rare Disorders – Physician Guide to X-ALD
*GeneReviews – Technical summary of X-ALD
* Links to external resources and links are provided as a public service and do not imply endorsement by the Washington State Department of Health.