Newborn screenings: Why do them? What’s the benefit?
Your baby has arrived, and you have counted all the fingers and toes. You have watched that small chest rise and fall peacefully. And you are reveling in the perfection of this new life. So why subject your new baby to a bunch of tests? Because it’s good parenting. It’s required by law. And most importantly, diseases that go undetected can cause medical problems as your baby grows. Many of the diseases included in newborn screenings can be successfully treated, preventing the development of intellectual and physical disabilities. Every state requires newborn screenings, although the number required varies. The federal government recommends 29 newborn screenings. Not all states require that many, while others test for up to 50 conditions. During the coronavirus pandemic, the Centers for Disease Control and Prevention began recommending testing all newborns for COVID-19 who are born to women with confirmed or suspected COVID-19. Essentially, newborn screenings detect potentially harmful or fatal disorders that are not apparent by looking at your baby. Or even by your physician doing a physical exam of your baby. When problems are caught early, it can make a huge difference in your child’s development and overall health. Is there a reason to say no to screening? As parents, you have the right to refuse to have your baby screened. These screenings can save your child’s life and are minimally uncomfortable, so there isn’t a great reason to say no. In addition, despite the pandemic, the World Health Organization has affirmed that newborn vaccinations should remain a priority and be administered according to schedule. Does my baby hear? Did you know hearing loss is the most common congenital condition in the United States? Or that 95 percent of these babies are born to parents who have no hearing problems? Most states include hearing screenings in the newborn assessment. You might think it would be easily noticeable if your baby can’t hear. But many toddlers have been diagnosed with hearing loss at 18 months or even older because parents didn’t recognize their children were deaf. The American Academy of Pediatrics (AAP) now recommends universal newborn hearing screening, diagnosis of hearing impairments by the age of 3 months and early intervention services to begin by 6 months. Age-appropriate brain development begins early. If a child has an undiagnosed hearing impairment, they will not receive language stimulation for appropriate brain development. However, for a deaf child born in a deaf family, the parents’ sign language acts just like hearing parents speaking to their babies. Hearing screenings vary. Overall, you can know they are not painful or uncomfortable for your baby. Most are done easily while the baby sleeps and don’t require any response from the infant. If you have heard that hearing tests are stressful for babies, it’s probably a reference to past tests that used noisemakers to record babies’ reactions and heart rate changes. These methods have been replaced with otoacoustic emissions (OAE) or auditory brainstem response (ABR). These screenings do not hurt and do not require any response from the baby. Is heart screening necessary? Critical congenital heart disease (CCHD) represents a group of heart defects that cause serious life-threatening symptoms. They require intervention within the first days or first year of life. These problems can range from mild (never require any surgery) to severe (requiring multiple stages of open-heart surgeries). Some babies affected with CCHD can look and act healthy at first but experience complications within hours or days. Pulse oximetry newborn screening is a noninvasive test that measures how much oxygen is in the blood. It helps to identify babies who may be affected with CCHD before they leave the newborn nursery. If detected early, infants affected with CCHD can often be treated and lead healthier lives. If the screening result was out of normal range, your baby’s doctor will be notified. Further evaluation will take place before the baby leaves the hospital. It is important to remember that an out-of-range screening does not necessarily mean your baby has CCHD. Follow-up testing will take place to help provide a clearer understanding of your baby’s result. Your baby’s doctor may recommend an additional pulse oximetry screening, complete clinical assessment, ECHO (echocardiogram), EKG (electrocardiogram) and chest X-ray to diagnose CCHD. Could my baby have an unknown disease? That answer lies in a blood sample. It’s taken by a simple prick of your baby’s heel — usually after the first 24 hours of life. However, now that many moms and babies are discharged within a day, some are tested during their first 24 hours. Experts recommend that a second sample be done two weeks later in those cases. The blood sample will be analyzed for numerous possible disorders that include metabolic, hormonal, blood and genetic issues. Once the lab has results, it notifies your baby’s primary care provider or pediatrician. Again, screenings vary from state to state. Feel free to talk to your baby’s doctor if you want to know more about the various tests. Examples of screenings Here are just three of several screenings that may be included. –Phenylketonuria: PKU is a metabolic disorder that was the first disease to be screened for in newborns. With PKU, specific enzymes are too low or are lacking so the body is unable to break down protein, an amino acid. Buildup of amino acid can cause nervous system problems, brain damage and mental retardation. When PKU is detected early, a special formula and diet can prevent these serious problems. -Congenital hypothyroidism: CH is a hormonal disorder caused by a lack of thyroid hormones, which are responsible for healthy growth and development. An oral medication can correct the condition. -Galactosemia: Galactosemia occurs because of lack of the enzyme that converts one of two sugars found in lactose into glucose. Glucose is the major source of energy for a baby’s cells. But a baby with galactosemia can develop intellectual and physical disabilities by consuming milk and dairy products — even breast milk. By early detection, safe alternative sources can meet a baby’s nutritional needs. Are screenings ever wrong? Most babies tested have none of the 30 to 50 conditions included in screenings. And even if a baby gets an “abnormal” result, screenings are simply red flags. They are not an actual diagnostic test. Screenings may find a potential problem. But they won’t necessarily pinpoint the specific medical issue or its severity. Screenings have become increasingly reliable since the Centers for Disease Control (CDC) established the Newborn Screening Quality Assurance Program (NSQAP) in 1978. NSQAP is the world’s only comprehensive program devoted to quality assurance of newborn screening tests. What do I do as a parent? If your baby tests “abnormal” or positive for a certain disorder, don’t panic. Listen to what the provider tells you. Ask questions. Take notes. Then follow the immediate directions you are given. For instance, you may have to change your caregiving by feeding baby more frequently, using a special formula, etc. Meanwhile, more testing will be required to confirm the presence of a specific disease and the level of impairment. Be proactive. Write down names and contact information of the various specialists with whom you speak. Ask questions, such as how long it will be before results come back to you. Call your baby’s primary care provider or pediatrician for assistance if you don’t hear answers in the promised time frame. If your baby is diagnosed with a congenital disorder, ask if future children could be at risk. If you have other children who were not screened for this particular disorder, talk to your doctor about possibly having them tested. Be proactive. Even before your baby is born, ask your doctor what tests are routinely included in newborn screenings in your state. If you have a family history of an inherited disorder or any reason to believe your child may be at risk for a certain condition, discuss your concerns with your doctor. You can also contact your state’s health department for specific information about newborn screenings.