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Disorders Covered by the Program In the early 1960s, the most important reason for routine screening in the newborn was to detect and treat phenylketonuria (PKU) in which progressive, profound mental retardation develops in most untreated individuals because the baby cannot metabolize the amino acid phenylalanine. It is now clear that neonatal hypothyroidism is three times as frequent as PKU. While it is possible to test for over 150 different analytes using a few drops of blood applied to a special filter paper, not all are practical.
We urge practitioners to use the term "NEWBORN SCREEN," rather than "PKU test," since other disorders besides PKU are included in the screening battery. Babies with other disorders have sometimes been mistakenly treated for PKU because any abnormal test result was referred to as a "PKU test." Introduction The disorders covered by the screening program are rare, collectively affecting about 1 in 2,000 infants, so the chance that any single infant will be affected is remote. The cost of not diagnosing one of these conditions, both in human suffering and financial terms, is immense because early diagnosis and treatment can result in normal growth and development. Babies with these conditions appear normal at birth. It is only with time that the biochemical abnormality affects the baby's health and development. By the time clinical symptoms appear the damage may be permanent.The goal of the Northwest Regional Newborn Screening Program (NWRNSP) which includes Oregon, Idaho, Nevada, Alaska and Hawai`i is to identify all affected infants before damage can occur. To do so, every baby must be screened. This requires coordinated efforts from three groups of health care providers: PRACTITIONERS: Responsible for the collection and handling of screening specimens, for providing parents with correct and current information and for prompt follow-up in the event of an abnormal result. CENTRAL SCREENING LABORATORY: Responsible for testing, record keeping, quality control of laboratory methods, notification of results and tracking of abnormal and unresolved results. TREATMENT AND FOLLOW-UP TEAM: Responsible for the confirmatory testing of infants with abnormal results, for the management of confirmed cases and for education of practitioners. The practitioner's responsibilities in the program are termed NEWBORN SCREENING PRACTICE (see page 38 and forward). A practitioner is defined as the person(s) responsible for supervising the birth and/or the early neonatal care of an infant. Inadequate screening practices can greatly affect the quality of an infant's screening tests and increase the chances that an affected infant may be missed. At least one-third of cases missed by screening programs in the United States are caused by errors in screening practice. The central screening laboratory and the follow-up team, together with state health agencies, have developed a quality control program to assist practitioners with their screening practices. Components of this program include ongoing education for practitioners and parents, computerized monitoring of certain screening practices, and an examination of communication channels between practitioners, the laboratory, and the follow-up team. This manual describes the disorders currently covered by the program, as well as the standards and common problems for certain screening practices, and provides general program information. Free software to view, navigate, and print Portable Document Files (PDFs) can be downloaded from Adobe (go get Acrobat Reader) |
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