The New York Times recently ran a series of editorials regarding prenatal care that was very informative.One of the editorials covered the necessary tests needed by a baby after delivery. The first required test that came about was for all newborns to be screened for phenylketonuria or PKU. PKU is an inherited metabolic disorder and it affects only one in 20,000 of the four million babies born each year in the United States. Children with PKU must remain on a special protein-restricted diet, because if not – the resulting buildup of phenylketone damages the brain and causes mental retardation and physical disabilities.
Today every state tests babies at birth for PKU ” and not just that. There are now more than 50 disorders that can be picked up through screening, 31 of which comprise the œcore conditions of the government’s Recommended Uniform Screening Panel. A blood sample from a heel stick can detect all but two of the conditions (hearing loss & critical congential heart disease)
Prior to 2008, the number and quality of newborn screening tests varied widely from state to state. In 2008, the Newborn Screening Saves Lives Act was adopted, establishing national screening guidelines and financial help for every state to create a comprehensive screening program. The law, which also provides professional education, parental support and a check on laboratory reliability, is up for renewal.
Conditions that can be detected through newborn screening include hormonal disorders like thyroid and adrenal abnormalities, blood disorders like sickle-cell anemia, severe immunodeficiencies, and dozens of enzyme disorders that result in a wide range of serious and sometimes fatal conditions.
Each of these disorders is relatively rare, but the effect of widespread screening has proved to be economical as well as lifesaving.
There is now a push for a new screening which will detect life threatening heart defects for newborns. The test would be simple – it would be a pulse oximetry test which reveals a sortage of oxygen in the blood resulting from a heart defect. As of last January, the test was required and fully implemented in only six states, including New York.
Each state decides which conditions to test for; most now screen for at least 20 disorders. But with more babies now born outside hospitals, it often becomes the parents’ responsibility to get newborns screened before they are a week old. An abnormal result on a screening test does not necessarily mean the baby has a problem; additional diagnostic testing is required. If a diagnosis is confirmed, parents are told how best to care for the baby to maximize the chances of normal development.
Florida screens all newborn babies for over 36 different conditions, unless a parent/guardian declines the test in writing. Before leaving the hospital, a newborn’s heel is pricked and a few drops of blood are taken from and the ears are also tested for hearing. Once the results are received, they are sent back to the hospital and then forwarded to the baby’s doctor. If the screening results are abnormal, the Newborn Screening Follow-up Program which is a part of Children’s Medical Services will contact the parent and\or doctor about additional testing and continue follow-up until the disorder is either ruled out or confirmed.