Baby Your Baby- Utah's Newborn Screening Helps Save Babies' Lives & Prevents Disability

Most newborn babies are healthy when they're born. While some babies may initially look healthy, some may have a rare health condition. When a baby is born, it's important that he or she is screened and tested because if problems are found early, they can prevent more serious problems. It's important to check if a baby's heart is working properly, check their blood for certain medical conditions, check for jaundice, and check to see if a baby is hearing properly. Newborn screenings help save and improve babies' lives. Many of these screening tests are required by state law because studies show these procedures can protect a baby's health and wellbeing and help them benefit from early detection and treatment. 'Newborn screenings can identify rare health conditions before symptoms appear, when treatment can still change the child's future,' said Tim Duffy, MD, a pediatrician and a senior medical director for pediatrics at Intermountain Health based in the Salt Lake City area. When a baby is born at an Intermountain hospital in Utah, four main screenings are performed to help keep babies healthy and diagnose certain conditions. If parents opt for a home birth or a birth at a birthing center, it's best to make sure either the birthing center or a pediatrician provides these screenings and treatments. Utah Newborn Bloodspot Screening The Utah newborn bloodspot screening program checks for 42 disorders from just a few drops of blood. The screening checks for hormone abnormalities, red blood cell abnormalities, cystic fibrosis, immunodeficiency disorders, sickle cell conditions, endocrine, hematologic, neurologic, and metabolic conditions including phenylketonuria or PKU. Newborn bloodspot screening is the first step towards a healthy baby since it helps save and improve newborns' lives. Even though most of the conditions tested for are uncommon, taken together, they affect about one in 300 newborns. 'As a pediatrician, I cared for a family with two children who have the same rare genetic condition called GAMT deficiency, which affects the body's ability to make creatine, which is important for energy use in the brain and muscles,' said Dr. Duffy. 'The older child wasn't diagnosed until seizures appeared at age five and now lives with intellectual disabilities and autism. The younger sibling was identified through screening and started treatment immediately. Today that child is developing normally. That's the difference an early diagnosis found through the Utah Bloodspot Screening can make,' he added. The Utah Bloodspot Screening happens in two parts. The first part of the test is done in the hospital about 24 hours after birth. A trained phlebotomist takes a few drops of blood from the baby's heel. The dried blood spot card is sent to the state newborn screening lab. The second part of the blood test is done between 7-16 days after birth. When parents leave the hospital, they receive a second blood spot card to take to their first newborn checkup, which is one of the many reasons it's important for parents to make and keep those appointments for their baby. Overall, early identification of these conditions can make a big difference in quality of life and health of newborns. Further testing may be needed to confirm a diagnosis. A baby's newborn provider or a Utah Newborn Screening Program representative will notify parents and discuss any concerns and details about follow-up testing. The Newborn Screening Program, run through the Utah Department of Health and Human Services, along with primary care providers and specialists in metabolic, endocrine, cystic fibrosis, hematology, neurology and immunology, all work together when disorders are identified to determine the best care and treatment for baby. The most common condition screened for on the newborn blood spot screening is congenital hypothyroidism, occurring in about 1 out of 2,000 births. Detecting this can mean the difference between a baby developing normally or having profound developmental delay. Other newborn screening tests can check for jaundice, heart defects, hearing problems, and genetic disorders. The goal of newborn screening is simple: find disease before disease finds the child,' said Dr. Duffy. For more information about newborn screenings or caring for your newborn or to find a provider visit intermountainhealth.org.