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The Ohio Department of Health’s Newborn Screening (NBS) program identifies newborn babies who may be at risk for some rare but serious health conditions. Babies with rare health conditions can appear healthy at birth. If these conditions are found in the newborn period, early treatment may help prevent serious problems with growth and development. In some cases, early detection may prevent death.
Ohio has been screening babies since 1966.  Initially, screening was done for only one condition, Phenylketonuria (fen-ul-ke-toe-NU-re-uh), also called PKU.  Over the years, additional conditions have been added to the Ohio newborn screening panel.  Currently, Ohio screens every sample for many disorders. The latest expansion added Lysomal Storage Disorders (Krabbe Disease, MPS I, and Pompe Disease) to the screening panel.
Ohio’s law requires newborn screening to be done on all babies born in the state. Hospital staff or the birth attendants are required to provide the parents with the educational brochure, Understanding Your Baby’s Newborn Screening Tests, which explains the newborn screening process.  Religious objection is the only reason recognized by the State of Ohio that parents can refuse newborn screening.  Parents that refuse newborn screening must sign a form stating that they are objecting to the screening of their baby because it conflicts with the tenets and practices of their religion.  Ohio Law also allows parent the option to refuse screening for Krabbe disease for any reason.  Parents should review the brochure Understanding Your Baby’s Newborn Screening Tests to determine if they wish to decline Krabbe Screening.
For babies born in the hospital, a few drops of blood are taken from the baby’s heel prior to the baby leaving the hospital. It is recommended that the newborn screening sample be collected when the baby is between 24 and 48 hours of age. If the baby is not born in a hospital, parents will need to arrange with their midwife, medical provider, or local health department for the newborn screen to be collected after the baby is 24 hours old, but before the baby reaches five days of age. Once collected, the blood sample is sent to Ohio’s newborn screening laboratory for testing. It is recommended that the newborn screening sample be sent by overnight shipping so that it reaches the laboratory the day after the sample is collected.
The results of the baby’s newborn screen will typically be sent to the birth hospital and to the baby’s health professional within a week of the sample arriving at the laboratory. Parents should make sure both the birth hospital and their baby’s medical provider have their correct address and phone number so that the family can be reached to receive results. Parents should ask about the newborn screening results during their baby’s first health checkup.
Sometimes a baby needs to have a second newborn screening sample collected. The most common reasons that a repeat newborn screening sample is needed are because the initial sample was collected before 24 hours of birth, or there is a problem with the quality of the first blood sample. Parents should arrange to have the repeat sample collected and sent without delay.
For most babies the newborn screening results are normal; however, each year newborn screening identifies approximately 3,000 babies that have abnormal results. An abnormal result on the newborn screen does not always mean the baby has a medical condition, it just means that further testing needs to be done to check the baby's health. Less than 10% of the babies that have an abnormal newborn screening result are diagnosed with a medical condition requiring medical treatment. When a newborn screening result is abnormal, the baby's medical provider is contacted by phone with the results. The medical provider will, in turn, contact the baby's parents to discuss any concerns and to arrange for further testing or referral to a specialist. It is important for parents to have the follow-up testing done as soon as possible.
When a baby has one of the conditions identified by newborn screening, treatment may be started to help the baby grow and develop. Treatment may consist of special diet, antibiotics, medications, education, therapies, and/or combinations of these.  The Children with Medical Handicaps Program (CMH) is a healthcare program in the Ohio Department of Health that can link families of children with special healthcare needs to a network of quality providers and helps families obtain payment for the services their children need. The Ohio Department of Health also provides metabolic formula to individuals born with some of the conditions identified by newborn screening. Examples of these conditions include phenylketonuria, maple syrup urine disease, tyrosinemia, and propionic acidemia.
Newborn screening may not identify every disorder and may not identify milder forms or variations of some conditions. Newborn screening cannot be used to identify carrier status or to identify disorders not on the Ohio Newborn Screening panel, even when these are related to disorders that are on the panel.  The overall goal of the NBS program is to improve the quality of life for babies through early diagnosis and treatment. Time is a very important element in this process. Cooperation and timely action by parents and medical providers will help all babies get a healthy start at life.