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Focus on Newborn Screening by SHARI FALLET, D.O. ROBERT EBERT, M.S.
Screening History The model for newborn screening resulted from the recognition by the medical community that mental retardation associated with a condition called phenylketonuria, or PKU, could be prevented if a special diet was instituted soon after birth. The symptoms of PKU are caused by the build up of substances that are normally digested in the body. This is associated with lack of an enzyme and causes mental retardation. Originally, the accumulated substance was measured by collecting urine from diapers, a method that was cumbersome and inefficient. In the 1960's, Dr. Robert Guthrie developed a simple and inexpensive method of testing using a filter paper that absorbs a few drops of blood obtained from a baby's heel. Massachusetts introduced the first newborn screening program for PKU about 40 years ago. Testing was voluntary and was not established as a responsibility of the health department nor was there legal responsibility for health providers to offer testing. The American Academy of Pediatrics, which develops policies for the care of children, questioned the accuracy of the PKU test and the effectiveness of early treatment. The need for further research became apparent and led to the establishment of the federal agency known as the Maternal and Child Health Bureau which funded a large study to address these issues. At the same time, child advocates voiced concern about the known risk for mental retardation in untreated children. The National Association of Retarded Citizens, now known as the ARC, suggested legislation to create public testing programs and organized extensive community lobbying in support of a mandatory PKU screening program. Many state health departments expressed support for regulated screening. Also, major advertising campaigns by organizations such as the March of Dimes were launched. Thus, collective efforts by the public, health care organizations and state and federal governments led to the foundation for newborn screening as it exists today. Currently, all 50 states have newborn screening programs for PKU and a second condition called congenital hypothyroidism. This disorder involves a poorly functioning thyroid gland resulting in growth delays and mental retardation. Screening Today Many states have added other tests to their newborn screening panels. However, since there are no national standards, the number of conditions screened varies widely from state to state. This is of great concern as a public health issue. The primary goal of a newborn screening program is the commitment to providing appropriate services to every newborn. The inconsistencies between state programs reflect the differences in community values, available technical capabilities and the local political and economic climate. Recent medical discoveries and advancing technologies may provide the ability to screen accurately for an increasing number of conditions. Specifically, using an instrument called a tandem mass spectrometer, laboratories can perform many tests from a single drop of blood. Unfortunately, these machines are expensive and require technical expertise that may not be available in all states. The growing interest in expansion of newborn screening led to congressional directives for federal agencies to evaluate state programs. In 1999, a Newborn Screening Task Force met in Washington, D.C. to address these issues. The committee called for "changes in many facets of these state-based systems, because the achievements of the past are not sufficient to carry newborn screening systems into the 21st century." Additionally, emphasis was placed on newborn screening as a process requiring several equally significant components: (1) Screening of the neonate; (2) Locating and notifying the child's family of abnormal results; (3) Evaluation of the infant including confirmatory testing by an appropriate medical specialist; (4) Initiation of treatment and provision of access to long-term care and educational resources; (5) Evaluation of the system regarding its benefit to the infant, family and society. Until July 2001, New Jersey mandated newborn screening for PKU, congenital hypothyroidism, galactosemia and blood disorders including sickle cell disease. Galactosemia results from the inability to digest certain sugars. This leads to the accumulation of toxic substances in the body and causes mental retardation, cataracts and other medical problems. Sickle cell disease is one of a group of blood disorders that present with anemia. In addition to the blood tests, a statewide Newborn Hearing Screening Program identifies infants at-risk for hearing problems based on a review of the prenatal, birth and family histories. These children are referred for testing. Saint Barnabas Medical Center performs hearing tests on all newborns. Recognizing the many emerging issues surrounding newborn screening, Christine Grant, New Jersey's former Commissioner of Health, appointed an advisory panel in 2000 to offer recommendations for adding other conditions to the State's screening panel. The panel's recommendations were forwarded to the governor's office for review and approval. On April 16, 2001, Acting Governor Donald T. DiFrancesco announced the addition of ten tests to New Jersey's Newborn Screening Program. Implementation began in July 2001 with the addition of maple syrup urine disease, congenital adrenal hyperplasia, biotinidase deficiency and cystic fibrosis. In January 2002, the New Jersey Department of Health will implement testing through tandem mass spectrome-try. Screening for four fatty acid oxidation disorders: medium chain acyl-CoA dehydrogenase deficiency (MCAD), short chain acyl-CoA dehydrogenase deficiency (SCAD), long chain acyl-CoA dehydrogenase deficiency (LCAD), and very long chain acyl-CoA dehydro-genase deficiency (VLCAD), and two urea cycle disorders: citrullinemia and argininosuccinic acidemia will be added to the panel. The Department of Health plans to designate and provide funding for the establishment of Regional Inherited Metabolic Defects Treatment Centers for children identified through the Newborn Biochemical Screening Program. For a referral to a Saint Barnabas pediatrician please call [ top ] |
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Newborn screening is recognized as one of the nation's most successful programs in child health care. Using a small amount of blood obtained from the newborn's heel, a variety of serious diseases can be detected. The goal is rapid identification of affected infants so that treatment can be initiated. Left untreated, most of these conditions are associated with various disabilities, severe medical problems, or death.
