Testing for a Healthy Baby

   
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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 30 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 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. If the first specimen is collected less than 48 hours after birth, a follow-up specimen also is required.

Parent 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 5 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. The 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, are generally 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 tests are completed. Parents are notified only if there is a problem. You should, however, ask about the results when you take your baby to the doctor for a regular check-up. 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 check-ups and good general medical care.

If a Re-Test is Necessary, Does That Mean My Baby Has One of These Birth Defects?

Not necessarily. Re-testing 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 re-tested, act quickly in order 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.

How Can I Help the Doctor Help My Baby?

If the doctor asks you to bring in your baby for re-testing, 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 re-tested, your doctor needs to know where to reach you. Remember, time is of great importance.

For Babies Not Born in Hospitals or Maternity Care Facilities

It is essential that a blood sample for screening be taken when the child is approximately 5-days-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 4-5 days old. A sample collected before or after that is better than no test at all.

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.

As a parent, you can help assure the health of your children by participating in the Newborn Screening Program.

Screening is Required by State Law

The Idaho State Legislature has instructed the Department of Health and Welfare to require that all babies born in Idaho receive screening tests for PKU and other specified metabolic disorders that can result in mental retardation and/or other serious health problems. Samples for testing must be collected before discharge from the hospital or birthing facility. For infants born "out of hospital," the person responsible for registering the birth of the child also is responsible for assuring that a proper specimen is collected and submitted no later than the fifth day of life.

Parents have the right to refuse screening tests for their newborn infant if this testing conflicts with their religious practices or beliefs. If this is true for you, be sure to tell the hospital staff and your doctor as soon as possible and complete, sign, and return the postcard you will receive in the mail.

Adapted from publications of the New York State 
Department of Health and Iowa Birth Defects Institute

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Additional Articles/Resources

(Note: You'll find these articles at different web sites. Use the "back" button when you're done to return to this page.)

Save Babies Through Screening Foundation, Inc. — Non-profit voluntary organization whose mission is to improve the lives of babies by preventing mental retardation and death resulting from disorders detectable through newborn screening. A greater understanding and awareness of these tests and disorders will help to prevent unnecessary complications since most can be effectively treated when caught early.

Genetic Services in Idaho — Genetic testing and reasons for them. The article also provides information on the Idaho Newborn Genetics Screening Program. The mission is to provide early identification and treatment for affected infants to prevent mental retardation, developmental delay, and/or infant deaths.

National Organization for Rare Disorders (NORD) — Voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.

MEDLINEplus: Genetic Testing/Counseling — Links you to a wide listing of resources available through a variety of public and private agencies.

Genetics Education CenterUniversity of Kansas Medical Center — Resources for teaching genetics, including links to human genome project information, news, lesson plans.

March of Dimes — Information on specific birth defects; resources, support groups.

Genetic and Newborn Screening Resource Center of the United States — Information, resources in the area of newborn screening and genetics to benefit health professionals, public health community, consumers, government officials.

Gene Tests — Choose clinic directory button.

 

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