Testing for a Healthy Baby
- WHO? Your baby and every baby born in Idaho.
- WHAT? Testing for some uncommon disorders in body chemistry.
- WHEN? Just before you take your baby home from the hospital or birthing facility.
- HOW? With a tiny amount of blood from the infant’s heel.
- WHERE? The blood sample is taken in the hospital or birthing facility. Testing is done at the Oregon Public Health Laboratory.
- WHY? To help prevent mental retardation and other life threatening complications. Many birth defects can be effectively treated if they are detected early.
Is Newborn Screening a new procedure?
No, almost every state in the United States has a Newborn Screening Program. The Idaho program has been ongoing since 1963.
Birth Defects Identified by Newborn Screening
Until the early 1990s, routine screening of newborns for inherited metabolic disorders was limited to three to five disorders. Today, using technology known as tandem mass spectrometry, more than 40 disorders of body chemistry can be detected in a single analysis of a small blood sample collected on special paper during the first few days of life. To learn more about the conditions tested for in Idaho, see the Idaho Practitioner's Manual.
Why is my baby tested?
To help assure that your baby will be as healthy as possible. A simple blood test provides important information about your baby’s health that you or even your doctor might not otherwise know. The Newborn Screening Program identifies infants who may have one of the uncommon birth defects for which this program screens.
Early diagnoses and medical treatment usually can prevent complications such as mental retardation or even death from these serious conditions.
How is my baby tested?
All of the tests are performed on one tiny sample of blood obtained by pricking the new baby’s heel. The blood is allowed to dry on a special absorbent paper, and is then sent to the laboratory for testing.
All babies are required to be sampled prior to discharge from the hospital or birthing facility. The first specimen is collected less than 48 hours after birth, and a follow-up specimen also is required.
Parents or guardians of babies needing a second test will be given a filter paper test kit for that purpose when leaving the hospital or birthing facility. The second sample should be taken when your baby is more than 10 but less than 15 days of age. It can be taken at your doctor’s office, hospital laboratory, or local health department. After collection, the sample should be allowed to air dry and then mailed immediately in the envelope provided.
But we've never had any birth defects in our family...
Parents who already have healthy children don’t expect any problems with birth defects. They are almost always right. Disorders for which screening is done are not very common, and chances are excellent your child will not have one of these conditions. The few children who are born with these problems, however, generally are from healthy families. By testing every baby soon after birth, we can be sure that each infant who has a metabolic disorder will be identified and started on early treatment.
My baby seems very healthy. Are the tests still necessary?
Yes. Most infants with birth defects screened by this program show no obvious signs of disease immediately after birth. In each of these disorders there is an "invisible" problem in one of the many chemicals produced naturally in the baby’s body. The Newborn Screening Program uses special laboratory tests to identify the infant who may have one of the disorders so that the baby’s doctor can be alerted to the need for special care for the infant. Hopefully, this can be done before the condition has had time to cause damage.
If my baby has one of these disorders, can it be cured?
It cannot be "cured," just as eye color and height cannot be permanently changed. The serious effects of the disorder can be lessened, however, and often completely prevented, if a special diet or other medical treatment is started early.
Will I be told the test results?
Your doctor or clinic will be informed when the tests are completed. Parents are notified only if there is a problem. You should, however, ask about results when you take your baby to the doctor for a regular checkup.
It is important to remember that these tests provide information only about some uncommon chemical disorders. An infant free of these disorders may have other medical problems for which these methods do not test. It is very important for your baby to have regular checkups and good general medical care.
If a retest is necessary, does that mean my baby has one of these birth defects?
Not necessarily. Retesting may be required for a number of reasons. The most frequent reason is that the first sample did not contain enough blood to allow for completion of all tests. This does not mean there is anything wrong with your baby.
On the rare occasions when the first tests indicate a possible problem, the results are not considered final; a new blood sample is requested, and the tests are repeated. As a general rule, only when a child’s test is unusual for a second time will the doctor discuss the need for further evaluation.
If you are asked to have your child retested, act quickly so repeat tests can be completed and final results obtained while the baby is still very young. It is very important that treatment, if needed, be started as quickly as possible.
How can I help the doctor help my baby?
If the doctor asks you to bring in your baby for retesting, Do it as soon as possible! If your child does have a disorder, prompt action is very important.
If you do not have a telephone, be sure to leave with your doctor the phone number of a friend, relative, or neighbor who can contact you. Also, be sure to notify your doctor immediately if you move after your baby is born. If your child should need to be retested, your doctor needs to know where to reach you. Remember, time is of great importance.
For those babies not born in hospitals or maternity care facilities:
It is essential that a blood sample for screening be taken before the child is 48 hours old. This can be done by a doctor or at a District Health Department clinic.
The ideal time for a sample collection is when the baby is 24 to 48 hours old. A sample collected before or after that is better than no test at all. Samples from infants older than six months cannot be processed.
If my child is found to have a disorder, will my future children have it also?
It is possible in some cases that future children also may be affected. Families with affected children may obtain information about their future risks from trained professionals with the Idaho Genetic Services Program. For additional information about counseling services available in your area, call 208-334-5962.
Parents have the right to refuse the screening tests for their newborn infant. Please discuss this decision with your healthcare provider. If you decide to decline the screening, you will be asked to sign an "Informed Dissent" document that releases your healthcare provider from liability.
Adapted from publications of the New York State Department of Health and Iowa Birth Defects Institute.