Patient Education Brochure

Why is my baby tested?

To help assure that your baby will grow up as healthy as possible. A simple quick, economical blood test provides important information about your babys health that you or even your doctor might not otherwise know. These newborn screening programs identify the few infants who may have one of a number of rare birth defects and alerts the doctors to this possibility. With early diagnosis and treatment, serious illness associated with most of these disorders can usually be prevented.

Is newborn screening a new procedure?

No. Newborn screening has been ongoing since 1962. Until recently, however, it was possible to screen for only a few disorders, such as phenylketonuria (PKU) and congenital hypothyroidism. With recent advances, it is now possible to screen for many disorders. The Comprehensive Newborn Screening Program includes these potentially treatable or manageable disorders.

For how many disorders will my baby be tested?

Potentially, over 30 inherited disorders, can be screened for depending on which Neo Gen Screening program is chosen. Although many of these disorders are rare, they are usually serious. Some may be life-threatening. Others may slow down physical development or cause mental retardation or other problems.

These disorders can affect a child at a very early age. For this reason, screening and diagnosis within the first days of life are important.

But my baby seems very healthy. Are the tests still necessary?

Yes, they are. Most infants with the disorders identified by our newborn screening programs 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 which are produced naturally in the body.

With special laboratory tests, these newborn screening programs can identify most infants who may have one of these disorders and can alert the doctor to the need for special care. Usually this can be done before the problem has time to cause permanent damaging effects.

How much will these tests cost?

The cost of many of our newborn screening programs is most often included in charges for routine newborn care. However, the exact costs will depend upon which Neo Gen screening program is offered to you through your state, region, hospital or health care provider.

But weve never had any of these disorders in our family...

Parents who have already had healthy children do not expect any problems with birth defects, and they are almost always right. These disorders are quite rare, and the chances are excellent that your child will not have one of these disorders. However, the few children who are born with these problems are generally from healthy families. The goal of this program is to identify babies who may be at risk and to treat them early.

How is my baby tested?

All of the tests are performed on one tiny sample of blood obtained by pricking the babys heel. The sample is usually taken on the day of discharge from the hospital or no later than 48 hours of age. The blood is allowed to dry on a piece of absorbent paper, which is sent for testing to a special newborn screening laboratory.

Will I be told if the tests are normal?

Generally, parents are notified only if there is a problem, but all normal results are reported to the hospital of birth. If you have any questions, you can call your Newborn Screening Program Coordinator in your region.

Although "no news is good news," it is important to remember that these tests provide information on only a few rare disorders, and, as screening tests, they may not pick up 100% of affected newborns. Even if these screening tests are normal, there may be other medical problems which cannot be detected by these methods. So it is very important for your baby to have regular check-ups and good general medical care.

Does a "retest" mean my baby may have one of these disorders?

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 for all tests to be completed. This does not mean there is anything wrong with the baby. It simply means that another sample must be obtained so that the complete set of tests can be performed.

On the rare occasions when the first test indicates a possible problem, the results are not considered final. It simply means that another sample is necessary to repeat the tests. As a general rule, it is when a test result is unusual for a second time that the doctor will discuss the need for further evaluation. On very rare occasions, because of the potential severity of a particular disorder, the doctor may insist on treating the child immediately while waiting for the results of a second series of tests.

If you are asked to have your child retested, please act quickly so the repeat tests can be completed and final results obtained while the baby is still very young.

What if my baby has one of these disorders? Can it be cured?

Because most of these disorders are inborn chemical problems, they cannot be "cured," just as eye color or height cannot be permanently changed. However, the serious effects of most of the disorders can often be completely prevented, or at least lessened, if a special diet or other medical treatment is started promptly.

If my child has a disorder, will my future children have it also?

This question is a very individual one. It can be answered only by a trained professional who has detailed information about your familys health history. The physician or a genetic counselor at a center where your child is evaluated will help answer this question.

How can I make it easier for the doctor to help my baby?

If your doctor asks you to bring the baby in for retesting, do so as soon as possible. If your child does have a problem, your prompt action in following the doctors instructions can be very important.

If you do not have a telephone, it will be helpful to leave the phone number of a friend, relative or neighbor with your doctor. You can also help by notifying your doctor or clinic immediately if you move soon after the baby is born. Inform them of your new address and telephone number. Then, if your child should need to be retested for any reason, your doctor will know where you can be reached.

Remember, time is of great importance. As a parent, you can help assure the health of a new generation through your cooperation.

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