The Newborn Screening Tests You Can Expect Baby to Get
November 26, 2019
Amid the fog of childbirth, you probably won’t remember reading every word on the forms for standard medical procedures you signed just after arriving at the hospital. If you do, you might recall the short section that mentions newborn screening—the tests that the hospital staff runs to detect if your child has any life threatening disorders. But if your memory isn’t jogged by the time the nurses are carrying off your infant for a heel stick, hearing test and pulse oximetry, don’t worry. Consider this your cram session for all you need to know about newborn screening tests.
Newborn screening is a US public health service that assesses all new babies for the likelihood of certain serious conditions. Mandated at the state level, newborn screening tests mainly look “for disorders that impact the production of certain proteins important for bodily functioning,” says Kecia Gaither, MD, director of perinatal services at NYC Health + Hospitals/Lincoln. She notes the two conditions people are most likely to be familiar with: HIV and sickle cell trait/disease.
From a couple drops of baby’s blood, the hospital staff tests for a bunch of diseases in four categories: metabolic disorders, endocrine disorders, genetic diseases and blood diseases, says Gabriela Garrote, MD, a pediatrician with TopLine MD in Coral Gables, Florida. “Some, if they aren’t treated early on, can lead to severe intellectual disabilities and oftentimes death, depending on the disorder,” she says.
While the number and type of tests varies by state, most locales perform at least two dozen newborn screening tests. These make up the recommended uniform screening panel (RUSP), a baseline roster of 35 disorders that the Department of Health and Human Services advises states screen for. “Some states provide additional testing depending on what the instances of certain diseases are there,” says Juan Carlos Millon, MD, FAAP, a pediatrician with TopLine MD in Miami. He points to Pennsylvania, which may add a test that can detect a certain metabolic disorder more likely to occur within Amish communities.
While states aren’t required by law to perform every test on the RUSP, most screen for 29 out of the recommended 31 health conditions. Many continually add additional tests as the field of genetic testing evolves. Your pediatrician and hospital will provide you with the conditions your state tests for; you can also check here. New York, for example, screens for 58 conditions, Florida tests for 54 and California screens for 63. “As the number of tests keeps increasing, we’re catching things earlier and in the big scheme of things, it’s what leads to better outcomes,” says Millon.
That’s why most parents grant permission for these newborn blood tests to be run, though most states allow parents to refuse for religious reasons. “These are life threatening conditions that you can do something about if caught early,” says Melanie Smith, DO, a doctor with Pediatrics East in Arlington, Tennessee. “It’s so worthwhile to screen and to screen early.”
Usually newborn screening tests happen after you’ve met, snuggled with and fed your newborn. A nurse will whisk baby away while you rest, which means that unless you two are discharged a few hours after birth, the testing occurs in the hospital. “In the US, it’s so entrenched and routine,” says Garrote. “Babies get the erythromycin eye ointment, the vitamin K shot and these tests, which usually happen within the first 24 to 48 hours.”
You’ll have to head to your pediatrician’s office for the testing if you leave the hospital early, if you give birth at home or if there are additional tests you’d like your child to have. “Because not all genetic and inherited disorders are the same, if a family knows that a specific disease runs in the family, they should ask whether the test is included in the screening,” says Garrote. “If not, talk to your pediatrician about getting baby screened for it.”
Only a few drops of blood are needed to test for almost all of these conditions, which include Maple Syrup Urine Disease and cystic fibrosis. A nurse will prick baby’s heel and catch the blood on filter paper, which eventually gets sent to a state office for examination. “It’s not a long procedure, and it’s not anything super-invasive—it’s not like a shot in the arm,” says Smith. “It’s similar to someone pricking their finger to check a sugar level.”
Even less invasive is the newborn hearing screening, which happens when baby is napping. Usually this entails small electrode stickers placed somewhere on your child; the probes are connected to a monitor that allows hospital staff to see how your infant responds to different sounds.
Lastly, staffers use a pulse oximeter—attached or lightly taped to baby’s hand or foot—to check for a handful of congenital heart diseases. “Picking up on heart disease early is life-changing for a child,” says Garrote. “The earlier you intervene, the better it is for them.”
Bottom line: There’s a very slim chance that baby has one of these diseases. Of the 4.1 million newborns screened each year in the US, 4,000 of them are diagnosed as having a condition, according to the American Academy of Pediatrics. It estimates that another 1,000 babies that have conditions go undetected.
That said, these tests often turn up false positives. If that’s the case for your child, you’ll get a call from either your pediatrician or the state office that ran the test. They’ll likely refer you to a specialist for more involved tests; each health condition has its own follow-up plan.
Above all, be sure you’ve picked and consulted with a pediatrician well before giving birth so you—and your state health office—knows exactly who to turn to if your newborn receives an abnormal test result. “Like with anything, the follow-up is super-important,” says Smith. “It’s important for you to find a pediatrician that the hospital can follow up with and who the newborn screening results will go.”
Updated November 2019
Please note: The Bump and the materials and information it contains are not intended to, and do not constitute, medical or other health advice or diagnosis and should not be used as such. You should always consult with a qualified physician or health professional about your specific circumstances.
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