New Born Screening
When your baby is 1 to 2 days old, he has some special tests called newborn screening. Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth. It includes blood, hearing and heart screening.
Your baby can be born with a health condition but may not show any signs of the problem at first. If a health condition is found early with newborn screening, it often can be treated. Early treatment is important, because it may help prevent more serious health problems for your baby.
Screening test for:
- Hemoglobinopathies
- Biotidinase
- Glucose-6-Phosphate Dehydrogenase (G6PD)
- Phenylketonuria (PKU)
- Cystic fibrosis (CF)
- Congenital Hypothyroidism (CH)
- Congenital adrenal hyperplasia (CAH)
- Fatty acid oxidation disorders
- Amino acid disorders
- Organic acid disorders
- Urea cycle disorders
- Lysosomal storage disorders like Gaucher, Pompe, Fabry, Krabbe, MPS1
How does newborn screening happen?
Common Disorders tested in Newborn screening
- Biotinidase Deficiency:
Biotinidase deficiency is an inherited metabolic disorder where the body lacks the enzyme biotinidase, necessary for recycling Biotin (one of the B vitamins) crucial for various bodily functions. Without treatment, it can lead to neurological problems such as seizures and developmental delays. - Galactosemia:
Galactosemia is a rare genetic disorder where the body is unable to metabolize Galactose, a sugar found in milk and dairy products. Without intervention, galactose buildup can cause liver damage, intellectual disability, and other serious health issues. - Congenital Hypothyroidism:
Congenital hypothyroidism occurs when the thyroid gland fails to produce enough thyroid hormone, essential for normal growth and development. Without treatment, it can lead to developmental delays, growth failure, and intellectual disability. - Glucose-6-phosphate dehydrogenase (G6PD) Deficiency:
G6PD deficiency is an inherited enzyme deficiency that affects red blood cells' ability to protect against oxidative stress. Exposure to certain foods, medications, or infections can trigger hemolytic anemia in affected individuals. - Congenital Adrenal Hyperplasia (CAH):
CAH is a group of inherited disorders affecting the adrenal gland’s ability to produce cortisol and aldosterone. In severe cases, it can lead to life-threatening adrenal crises, electrolyte imbalances, and ambiguous genitalia. - Cystic Fibrosis:
Cystic fibrosis is a genetic disorder affecting the lungs and digestive system, causing thick, sticky mucus to build up in these organs. Without proper management, it can lead to respiratory infections, digestive problems, and lung damage over time. - Hemoglobinopathies:
Hemoglobinopathies are a group of inherited blood disorders characterized by abnormalities in the structure or production of hemoglobin, the protein in red blood cells that carries oxygen. Examples include sickle cell disease and thalassemia. These disorders can lead to anemia, jaundice, and complications such as pain crises and organ damage. Early diagnosis through newborn screening allows for prompt intervention and management to improve outcomes for affected individuals.
