Screening is required by State law:
The Idaho Legislature has instructed the Department of Health and Welfare to require that all babies born in Idaho receive two screening tests for Phenylketonuria (PKU) and other disorders that can result in mental retardation or other serious health problems. This procedure is called the “newborn screen,” or the “newborn blood spot screen.” This test should not be called “The PKU” or the “The PKU Test,” as Idaho now screens for more than 46 conditions. To learn more about the conditions tested for in Idaho, see the Idaho Practitioner's Manual 9th Edition, 2011.
The first sample for testing must be collected before discharge from the hospital or birthing facility, ideally at 24 to 48 hours, although a sample collected before or after that is better than no test at all. A tiny sample of blood is obtained by pricking the baby’s heel. The sample is then placed on a special absorbent paper which is sent to the laboratory. For infants born “out of hospital,” the person responsible for registering the birth of the child is also responsible for assuring that a proper specimen is collected and submitted. Parents or guardians will be given a filter paper test kit for the second specimen when leaving the hospital or birthing facility. Your doctor’s office or some hospitals or their laboratories will collect the specimen on the kit at 10 to 14 days of age and send it to the Oregon Public Health Laboratory.
Will my baby’s screening sample be used for anything other than Newborn Screening?
No. Without your written permission, the newborn screening specimen collected from your baby will not be used for anything other than newborn screening.
Is Newborn Screening a new procedure?
No. Every state in the United States has a Newborn Screening Program. The Idaho program has been in existence since 1963.
Why is my baby screened?
To help assure that your baby will be as healthy as possible. This 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 conditions for which this test screens.
Early diagnosis and medical treatment usually can prevent complications such as mental retardation or even death from these serious conditions.
Will I be told the test results?
Your doctor or clinic will be informed of the results when the tests are completed. Parents are notified only if there is a potential problem. You should, however, ask about the results when you take your baby to the doctor for a regular check-up.
If you do not have a telephone, be sure to give 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.
These tests provide information only about some uncommon disorders. An infant free of these disorders may have other medical problems for which these methods do not test. So, it is very important for your baby to have regular check-ups 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 the completion of all of the 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 then 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 that 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.
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 that 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 identified babies will start treatment early.
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 an 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. However, the serious effects of the disorder can be lessened and often completely prevented, if a special diet or other medical treatment is started early.
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 due to religious objections. 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. Website Updated 7/12/2012