|
 |
|
Screening FAQs
A simple blood test could save your baby’s life. 
Why is my baby tested?
A simple, quick blood test provides important facts about your baby's health. A newborn baby can look healthy, but have a serious disorder that you or your doctor may not know about. The newborn screening test identifies those babies who may have one of a number of rare disorders. If not treated, these disorders can cause mental handicap, blindness, liver problems, brain damage or even death.
Why is early detection so important?
With early detection and treatment, illness from these disorders can usually be prevented.
Which disorders are included in the Newborn Screening Test?
In British Columbia , all babies are tested for Hypothyroidism, Phenylketonuria (PKU), Galactosemia and Medium Chain Acyl-CoA dehydrogenase deficiency (MCAD).
How will my baby be tested?
A few drops of blood are taken from the heel of your baby's foot. The same blood sample is used for all tests.
How soon after birth will my baby be tested?
Your baby is tested between 24 and 48 hours after birth. The test is done before your baby leaves the hospital.
What if I go home before my baby is 24 hours old?
The blood test for PKU may not give true results if done too soon after birth. If your baby's blood is tested before 24 hours of age, a second test is done when your baby is one to two weeks old.*
* American Academy of Pediatrics Policy Statement
Can I wait and have my baby tested later?
Hypothyroidism and Galactosemia can be detected by the blood test any time after birth. The earlier these treatable disorders are found, the better the outcome will be for your baby. Babies should not leave the hospital without a blood test.
What does a positive blood test mean?
If the test comes back positive, more in-depth testing will be done.
What if the results show that my baby has one of the disorders after all the tests are done?
Your baby will need treatment from a doctor who specializes in these diseases. You will be referred to a specialist right away. Treatment can start in a few days.
Newborn Screening tests for the following disorders:
Hypothyroidism
A baby born with hypothyroidism cannot make enough thyroid hormone. Thyroid hormone keeps a baby's body growing strong and healthy. Without it, delayed growth and brain damage occur. With early detection and thyroid hormone treatment, these children have normal growth and intelligence. One baby in 3,000 is born with hypothyroidism.
Phenylketonuria or PKU
A baby with PKU is missing an enzyme that is needed to process the essential amino acid phenylalanine, found in certain foods. Without treatment, phenylalanine builds up in the baby's blood and causes mental retardation. If PKU is found early, the baby is fed a special diet that is low in phenylalanine. Most children with PKU who are treated early have normal intelligence. One baby in 12,000 is born with PKU.
Galactosemia
A baby with this condition cannot process galactose, a sugar found in milk. If galactosemia is not treated, it can cause damage to the baby's eyes, liver, and brain. These problems are prevented with a special diet. One baby in 50,000 is born with galactosemia.
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
A baby born with MCAD may have problems using fats stored in their body for energy. The baby is healthy when eating well. If the baby has a cold or the flu he or she may not be able to use the stored fatty acids as energy. There is a risk of sudden unexpected death which can be prevented by using a special diet and not fasting. One baby in 12,000 is born with MCAD.
Long Chain 3 Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
LCHAD is an enzyme defect that leads to an inability of the body to break down fatty acids into a usable energy source. LCHAD deficiency can present in many ways, such as low blood sugar, sudden unexpected death, low muscle tone or problems with the function of the heart. Treatment with avoidance of fasting and a special diet can improve health outcomes. One baby in 80,000 is born with LCHAD.
Glutaric aciduria type I (GA-I)
GA-I is caused by an enzyme defect in amino acid metabolism. Babies may develop normally early on but are at risk of metabolic crisis that can lead to brain damage, seizures and cerebral palsy-like symptoms. With early diagnosis and treatment, brain damage may be prevented.
Developed by:
Newborn Screening Program of British Columbia
Children’s and Women’s Health Centre of B.C. Quality and Risk Management
BC Women’s Family Education Revised February 1, 2003
|
|
|
|
|
|