Newborn screening is an essential preventive public health function, used to identify at risk infants in the first few days of life, so that early treatment can be implemented to prevent mental retardation, chronic disability or death. The New Jersey Department of Health has a long standing and effective program that assures testing, case follow-up tracking, and the provision of appropriate health care management of all infants detected as presumptively at risk for one of the specific conditions in the mandated screening panel.
The State’s Newborn Screening (NBS) Laboratory is mandated to screen for a total of fifty-four (54) metabolic and genetic disorders. Forty-three (43) disorders, the amino acid disorders, the fatty acid oxidation disorders, the organic acidemias, and the urea cycle disorders, are screened using tandem mass spectrometry. Other technology is used to screen for nine (9) other disorders, specifically biotinidase deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, cystic fibrosis, galactosemia and two (2) variants, also sickle cell anemia and other hemoglobinopathies.
The NBS laboratory is responsible for specimen analysis, record keeping, quality control of laboratory methods and notification of results to hospitals, practitioners and the Newborn Screening Follow-up program.
The State’s Newborn Screening and Genetic Services Follow-up program is responsible for tracking abnormal screening results, assuring that affected infants are referred for appropriate care and collecting final diagnoses on referred infants. The program collects and analyzes incidence data, and serves to disseminate information about newborn screening disorders to practitioners, parents and consumers. The unit is also the source of funding for specialized care centers.
The purpose of newborn screening is to identify infants at risk for disorders, which if left untreated may result in mental retardation and/or other disabilities. The results of screening tests do not establish a diagnosis, but rather serve to identify patients who require further testing. The State NBS Laboratory screens for the classical forms of disorders; some variant forms may not be detected. Transfusions can lead to false negative results.
It is critical that practitioners be aware that newborn screening may not reveal all affected infants and does not replace a physician’s clinical awareness and diagnostic capability for the diseases screened and not screened. It is essential for health care providers to remain watchful for any sign or symptom of these conditions in their patients. A screening result should not be considered diagnostic and cannot replace the individualized evaluation and diagnosis of an infant by a well-trained, knowledgeable health care provider.
The law requires all newborns to be screened except when a parent or guardian provides written objection to a physician, other person administering screening or the facility, based upon religious tenets or practices. The parent’s written objection (a signed statement) should be filed in the permanent medical record, and a copy sent to the New Jersey State Department of Health , NBS Laboratory P.O. Box 371, Trenton, NJ 08625-0371.