Newborn screening tests for a variety of conditions to identify and treat them early, including metabolic and genetic disorders. While the exact number may vary slightly by location, a typical panel includes approximately 28 conditions. Here are some of the most common diseases included in newborn screening, based on the provided reference, along with a few others that are generally included:
| Disease Category | Specific Disease |
|---|---|
| Amino Acid Disorders | Phenylketonuria (PKU) |
| Maple Syrup Urine Disease | |
| Homocystinuria | |
| Endocrine Disorders | Congenital Hypothyroidism |
| Congenital Adrenal Hyperplasia | |
| Hemoglobin Disorders | Sickle Cell Disease |
| Other Metabolic Disorders | Galactosemia |
| Biotinidase Deficiency | |
| Fatty Acid Oxidation Disorders | |
| VLCAD Deficiency | |
| LCHAD Deficiency | |
| Organic Acid Disorders | |
| Propionic Acidemia | |
| Isovaleric Acidemia | |
| 3-Hydroxy-3-Methylglutaric Aciduria (HMG) | |
| Cystic Fibrosis | |
| Hearing Loss | |
| Severe Combined Immunodeficiency (SCID) | |
| Other Inherited Disorders | |
| Other |
Specific Disease Descriptions (based on the reference):
- Phenylketonuria (PKU): An inherited condition where the body cannot process phenylalanine, an amino acid found in proteins. This can lead to serious health issues if not managed.
- Congenital Hypothyroidism: A condition where the thyroid gland does not produce enough thyroid hormone, which can affect growth and development.
- Galactosemia: A metabolic disorder where the body cannot properly process galactose, a type of sugar.
- Sickle Cell Disease: A group of inherited blood disorders that affect red blood cells, causing pain and other complications.
- Maple Syrup Urine Disease: A metabolic disorder in which the body cannot break down certain amino acids, leading to a buildup of toxic substances.
- Homocystinuria: A disorder where the body can't process the amino acid methionine properly.
- Biotinidase Deficiency: A condition where the body doesn't process biotin (a vitamin) correctly.
- Congenital Adrenal Hyperplasia: A group of genetic conditions that affect the adrenal glands, which produce important hormones.
Important Considerations:
- The specific diseases included in newborn screening can vary slightly by state or country.
- Early detection and treatment of these conditions can significantly improve the health and well-being of affected newborns.
- Newborn screening is typically performed using a small blood sample taken from the baby’s heel.
- If a screening test is positive, further testing is done to confirm the diagnosis.
