State law requires that all babies have their blood drawn and tested. This is called a Newborn Screen Blood Test,. This used to be called a PKU test. The Newborn Screen Blood Test checks to see if your baby has certain diseases or conditions (see below).
Your baby may look healthy, even if he or she has one of these diseases. If your infant has one of these conditions and it is not found early, there will be serious problems. This blood test will tell whether more testing and future counseling will be needed.
|Picture 1 The Newborn Screen Blood Test|
All infants are screened before they are released from the hospital where they were born. If your baby goes home from the hospital before he or she is 24 hours old, the test will have to be repeated. It is important that the repeat test be done in the first 5 days of life.
The test is done with a few drops of blood drawn from the heel of the infant and dripped on a special paper (Picture 1). All the newborn screens are sent to the Ohio Department of Health Laboratory.
When a premature or sick newborn is transferred here from another hospital, the doctors and nurses at Nationwide Children’s Hospital make sure the needed Newborn Screen Blood Test or follow-up tests are done.
You will not be notified of the results unless further testing is needed.
The baby’s primary care doctor is responsible for keeping the test results in your child’s medical record.
The Ohio Newborn Screen Blood Test checks for more than 35 different diseases and conditions. These are a few examples:
PKU (Phenylketonuria) (pronounced FEN il KEE toe nur EE ah) – A person who has this condition is not able to use the amino acid phenylalanine. This substance will build up in the body and can cause brain damage. If the condition is not found early, the brain can
be damaged soon after birth. However, a baby who is treated before 3 to 4 weeks of age can have normal development, and mental retardation can be prevented. Treatment usually involves feeding the baby a special formula and a special diet (Picture 2).
Galactosemia(ga lak to SEE me uh) – A baby with this disease can’t use a milk sugar called galactose. The unused galactose builds up and damages the brain, liver, and eyes. There will be severe and permanent damage to the brain and liver if the condition is not found and treated at the beginning of life. A baby can have a healthy life if a special galactose-free diet is started and controlled early in life.
Hypothyroidism (HI poe THI royd iz m) – An infant with this condition doesn’t make enough thyroid hormone for the body to function normally. When there is not enough thyroid hormone, the baby will have slow physical and mental development. Giving the baby a pill daily to replace the missing hormone can treat this condition.
A baby with PKU needs to be fed a special formula
Homocystinuria (HO-mo-siss-ti-NU-re-uh) – Babies with this disease do not have a liver enzyme that is needed for normal growth. The tissues, vessels, and bones become damaged. This disease progresses very slowly, so it needs to be found before any symptoms occur. The child can develop normally if the condition is found at the beginning of life. Treatment usually includes regular doctor’s visits, a special diet, and sometimes extra vitamins.
Sickle Cell Anemia ((or other disorders of the hemoglobin [HEE moe glo bin] in the blood) – Babies with this disease have red blood cells that become sickle-shaped because they do not get enough oxygen. These sickle-shaped cells can clog the blood vessels and cause severe pain. A baby with this disease can get infections more easily and have slower growth and development. If this is not found early, the infant can get a severe infection that could lead to death. The screening helps identify this disease so that daily doses of penicillin can be given by mouth to reduce the chances of infection. Infants diagnosed with sickle cell disease will be referred to the Sickle Cell Treatment Center at Nationwide Children’s
If you have any questions, be sure to ask your doctor or nurse, or call________________________.
HH-III-88 2/00, Revised 11/12 Copyright 2000, Nationwide Children’s Hospital