A Newborn’s First Tests

by Carol Berkowitz, M.D., president of the AAP

A Newborn’s First Tests

You’re probably aware that your newborn was given screening tests at birth to detect a variety of “congenital” conditions  — those that a baby can be born with. Early treatment for these disorders can usually prevent physical disability, developmental delays, and even death.

Did you know, however, that your baby may not have been screened for as many  — or even the same types of  — disorders as a child born in another state? We currently have no national standards for newborn screening tests, and requirements can vary greatly from state to state. But that may be about to change. The American College of Medical Genetics recently released a report recommending that all babies born in the U.S. be screened for the same 29 disorders. The U.S. Department of Health and Human Services is expected to issue final guidelines in the coming months. Here are answers to parents’ most common questions.

What is newborn screening? Whether they’re born in a hospital, birthing center, or at home, all babies are given a blood test and often a hearing evaluation soon after birth to check for serious disorders.

What tests will my baby receive? As testing now varies by state, ask your pediatrician which tests your newborn will undergo. You can also contact your state health department or visit the website of the National Newborn Screening and Genetics Resource Center. All states test for phenylketonuria, or “PKU,” (when the body can’t break down an essential amino acid), congenital hypothyroidism (a defect in the development of the thyroid gland), and the metabolic disorder galactosemia (an inability to break down milk sugars). Most states also screen for sickle cell diseases and congenital hearing loss. Fewer, however, test for rare metabolic disorders in which early diagnosis and treatment are critical. To order extra tests beyond what’s given in your state, visit the Save Babies Through Screening Foundation.

Wouldn’t I know if my baby was sick? It’s important to note that most babies with these disorders appear to be healthy. Newborn screening allows your doctor to catch a problem before it has a chance to make your baby sick. Babies who are diagnosed with one of these disorders and receive proper treatment early enough usually go on to live normal lives, though many will require lifelong medical attention.

How do I find out the results of my baby’s test? A report will be sent to his pediatrician. With that in mind, be sure to let the doctor know if you move or change phone numbers soon after your baby’s birth. Parents often are notified only if the screening detects a problem, but, for peace of mind, you might want to call and request the results to ensure that they haven’t been lost or misplaced.

What if a test is positive? Fortunately, the conditions screened for are rare, and chances are good that your baby’s newborn screening tests will be negative. If a test shows an abnormal result, you’ll be notified immediately about how to get follow-up testing and medical care. To learn more, visit the American Academy of Pediatrics website, the March of Dimes, and the National Center of Medical Home Initiatives.