Why is Expanded Newborn Screening important?

Early diagnosis and treatment of these metabolic disorders can help prevent serious medical problems like mental retardation, physical disability, and even death.

How is the test done?

The screening is done by collecting a few drops of blood from your baby’s heel on special filter paper. After the sample has dried for 2-4 hours, it is mailed to the laboratory for analysis.

When is the best time to have my baby tested?

It is best to have your baby tested at 24-48 hours of life. However, if your baby did not get Expanded Newborn Screening in the hospital, your pediatrician can perform the test at an office visit. In this case, it is best that your pediatrician perform the test within the first week of life, since the test is most sensitive at that time. We do not recommend this test for infants older than two months.

But my baby looks healthy…

Many babies with metabolic disorders are healthy at birth. It may even take several months before a baby with one of these disorders gets sick. It is important to begin treatment before the baby gets sick to prevent permanent disability or death.

But no one in my family has ever had a metabolic disorder…

Many children with a metabolic disorder come from families with no history of the condition. Even if you have older children that are healthy, it is still a good idea to have your baby tested by Expanded Newborn Screening.

What are the chances that my child will have one of these disorders?

Metabolic disorders are very rare. Of the nearly 70,000 children born in Colorado each year, fewer than 20 will have one of the disorders detected by Expanded Newborn Screening. If your child is one of the few with one of these disorders, early treatment is necessary to help prevent serious medical harm.

How will I learn the results of the test?

The results will be reported to your pediatrician/gyneacologist. Please make sure to include the name and telephone number of your pediatrician/gyneacologist on the screening card.

What does it mean if my baby is retested?

If the results of your baby’s test indicate a possible problem, we will inform your pediatrician right away. We may ask for a “retest” or suggest additional testing. A request for a retest does not necessarily mean that your child has a disorder. It only indicates the need for further evaluation.

Can these disorders be cured?

No. Just as eye color or height cannot be changed, disorders of body chemistry cannot be cured. These disorders are caused by “mistakes” in the genes that cannot be corrected. However, the serious effects of many of these disorders can be prevented or lessened if a particular diet or medication is started early.