Every state in the us requires that newborns be tested for which of the following disorders
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Newborn screening identifies conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and enable children to reach their full potential. Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders, and are also tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge from a hospital or birthing center. Though most babies are born healthy and stay that way, a very small percentage are apparently healthy at birth and then get sick because of a metabolic disorder — which can be potentially life-threatening if left undetected and untreated. Other babies are born with various rare but serious conditions, like a congenital heart condition. Luckily, inexpensive tests can catch all of these conditions early, and proper treatment can, in many cases, save lives. The following screening tests and procedures will make sure your little one gets the healthiest start to life. How many tests and screenings will my newborn need in total?The number of newborn screenings your baby will receive varies by state, but one blood draw that screens for at least 21 serious genetic, metabolic, hormonal and functional disorders is required by law. The U.S. Department of Health and Human Services (HHS) recommends screening for 35 core and 26 secondary conditions to check for a total of 61 different disorders. Your baby will also likely receive several other basic screenings designed to detect other issues, like congenital heart defects and impaired hearing. What kind of tests will my newborn baby get?The newborn screenings your baby will most likely undergo include: A rating on the Apgar scaleThis simple and essential assessment of baby’s condition is done between one and five minutes after birth. A congenital heart disease screeningThe Centers for Disease Control and Prevention (CDC) also recommends, and some states require, screening tests soon after birth for congenital heart defects. This condition, which affects 1 in 100 babies, can lead to disability or death if not caught and treated in time. Happily, when a baby gets a diagnosis and treatment early, those risks are reduced significantly and, in most cases, completely. 21 or more types of blood screensA single blood test looks for at least 21 serious genetic, metabolic, hormonal and functional disorders, including PKU, hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, maple syrup urine disease, galactosemia, homocystinuria, medium-chain acyl-CoA dehydrogenase deficiency and sickle cell anemia. Continue Reading Below Read This NextAlthough most of these conditions are very rare, they can be life-threatening if they go undetected and untreated. A hearing testFor 2 to 4 out of every 1,000 babies born each year in the U.S., the sense of hearing — so integral to the development of speech and language — is impaired. Since a deficit can affect so many aspects of a child’s development, early diagnosis and treatment are key, which is why the American Academy of Pediatrics (AAP) endorses the test for all newborn babies. A physical examination and preventive treatmentsIn addition to conducting the core newborn screening tests during your baby's hospital stay, your doctor, midwife or nurse will most likely also:
How is my baby tested?Within the first 24 to 48 hours after birth, your baby will most likely undergo the following procedures: Blood testTo test for more than 21 possible metabolic, genetic, hormonal and functional disorders, a few drops of blood are routinely taken using a single heel stick test usually 24 to 48 hours after birth. Congenital heart disease screeningThis screening, using pulse oximetry, is simple and painless. A sensor is placed on your baby’s skin to measure your little one’s pulse and the amount of oxygen in his blood. If the results of the screening seem questionable, the doctor will request further testing (like an echocardiogram or an ultrasound of the heart) to determine if anything is wrong. Newborn hearing screeningOne test, called otoacoustic emissions (OAE), measures response to sound by using a small probe inserted in baby’s ear canal. In babies with normal hearing, a microphone inside the probe records faint noises coming from the baby’s ear in response to a noise produced by the probe. The test can be done while baby is sleeping, is completed within a few minutes and causes no pain or discomfort. A second screening method, called auditory brainstem response (ABR), uses electrodes placed on baby’s scalp to detect activity in the brain stem’s auditory region in response to "clicks" sounded in the newborn's ear. ABR screening requires the infant to be awake and in a quiet state, but it’s also quick and painless. If your baby doesn’t pass the initial screening, the test will be repeated to avoid false-positive results. What is the Apgar test?The Apgar test is the first screening most newborns are given; the scores — rated on a scale of 0 to 10, and taken one minute and again five minutes after birth — reflect baby’s general condition. They’re based on observations made in five assessment categories: appearance, pulse, reflexes, muscle tone and breathing. What is the vitamin K shot?Since most babies are born with low levels of vitamin K, they'll get a vitamin K shot within six hours of birth to enhance their blood-clotting ability and prevent a potentially dangerous condition from cropping up. Will my baby require every test? Can I opt out of newborn screening tests?All 50 states and the District of Columbia require a newborn blood screening for at least 21 disorders, with many states screening newborns for the 61 disorders suggested by the HHS and sometimes a few additional ones. Check with your practitioner or your local board of health to find out what tests are done in your state, or look them up online at Baby's First Test (a newborn screening clearinghouse funded by the Maternal and Child Health Bureau, a branch of the Health Resources & Services Administration). If you’re concerned, discuss your fears at a prenatal visit — don’t wait until delivery day to speak up. You do have the right to opt out of any test or procedure, but you will need to sign paperwork documenting your decision. In some cases, the hospital might inform the state’s department of child services that you’ve decided to forgo the recommended screening. Keep in mind, although most of these conditions are very rare, they can be life-threatening if they go undetected and untreated. Testing is inexpensive, and in the very unlikely event that your baby tests positive for any condition, the pediatrician can verify the results and begin treatment immediately, making a huge difference in the prognosis. It's in your child's best interest to get all the screenings your pediatrician and hospital recommend. Will my baby need more tests than the required screenings?Certain states require additional "secondary" newborn screenings in their heel-stick tests, sometimes because of an at-risk population in the area. To check which conditions must be tested for in your state, visit Baby's First Test. Will my insurance cover all the newborn screening tests?Under the Affordable Care Act, your insurance is required to cover the following newborn screenings:
There’s a good chance your insurance will cover all the other blood tests as well as the one for congenital heart defects, so be sure to check. Can I ask for more newborn screening tests?If your hospital doesn’t automatically provide all 35 core newborn blood tests recommended by the HHS, you can arrange to have them done. Talk to your doctor, then check with your insurance to calculate your out-of-pocket costs, if any. If your state doesn’t require screening for congenital heart disease, ask your baby’s pediatrician if your little one can get tested. Are all newborn tests safe?Yes. All newborn tests have a proven track record of protecting babies and were recommended only after extensive research. They’re not only perfectly safe for your little one, they’re highly recommended. From the What to Expect editorial team and Heidi Murkoff, author of What to Expect When You're Expecting. What to Expect follows strict reporting guidelines and uses only credible sources, such as peer-reviewed studies, academic research institutions and highly respected health organizations. Learn how we keep our content accurate and up-to-date by reading our medical review and editorial policy. Which genetic diseases are routinely screened for at birth in the US?In most states, testing is done for phenylketonuria (PKU), hypothyroidism, galactosemia, and sickle cell anemia (SC)/other hemoglobin disorders. Phenylketonuria (PKU).
What tests are done on a newborn baby?There are three parts to newborn screening: the blood test (or heel stickWhen the baby's heel is pricked to collect a sample of blood for newborn screening); the hearing screen; and pulse oximetry.
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