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Frequently Asked Questions About NeoGen Screening

At Jefferson Abington Hospital, all newborns receive a NeoGen screening before going home. NeoGen screening is performed to help ensure that your baby will grow up as healthy as possible. This simple, quick, economical blood test provides important information about your baby's health that you or your doctor might not otherwise know. The supplemental newborn screening program identifies the few infants who may have one of a number of rare birth defects and alerts doctors about 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. Every state in the United States has a newborn screening program. Newborn screening has been ongoing since 1965 and, at the present time, all states routinely screen every newborn for phenylketonuria (PKU) and congenital hypothyroidism. The supplemental newborn screening program is designed to extend screening to include additional potentially treatable or manageable disorders, and is recognized by many as the accepted standard of care.

For how many disorders will my baby be tested?

Over 50 inherited disorders will be screened for by this supplemental newborn screening program. 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 very early in life. 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 body chemistry disorders identified by the supplemental newborn screening 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 which are produced naturally in the body.

With special laboratory tests, the screening program 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.

But we've never had any birth defects 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 baby's heel. The sample is usually taken on the day of discharge from the hospital or within two days of life. The blood is allowed to dry on a piece of absorbent paper, which is sent for testing to a special screening laboratory.

Will I be told if the tests show no birth defects?

Generally, parents are notified only if there is a problem, but if you have any questions you can call the screening program coordinator at 412-220-2300.

Although "no news is good news," it is important to remember that these tests provide information on only a few rare chemical disorders. There may be other medical problems which cannot be detected by this test, and as a screening test they may not pick up 100 percent of affected newborns. So, even if the test results are normal, 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 a birth defect?

Not necessarily. Retesting may be required for a number of reasons. The most frequent reason is that the first sample contained too little blood to allow for completion of all tests. 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 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. Only on very rare occasions, because of the potential severity of a particular disorder, will the doctor 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.

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

If your doctor asks you to bring your baby in for retesting, do so as soon as you can. If your child does have a problem, your prompt action in following the doctor's 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 the 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 with the supplemental newborn screening program.

Jefferson Abington Hospital
Maternal Health Services
1200 Old York Rd.
Abington, PA 19001

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