Genetic and metabolic conditions for children with special health care needs

Abstract

Public health disease prevention programs have expanded newborn screening to most nations, although lack of access to prenatal and birth care continues to be a major challenge to improving child health and reducing mor- bidity/mortality in poor, rural, and other disadvantaged regions. Newborn screening involves collection of a few blood spots from a newborn infant's heel, followed by rapid laboratory analysis, often at a centralized testing facility, and relaying of the test results to the pediatrician for appropriate action. Such testing and rapid reporting are important for some genetic conditions such as phenylketonuria and classical galactosemia, where failure to provide treatment and restricted diets within days can result in severe brain damage, permanent disability, and/or death. Newborn screening started in the 1970s with a core set of tested conditions, including phenylketonuria, sickle-cell anemia and other hemoglobinopathies, galactosemia, and congenital hypothyroidism. Beginning around 2000, the invention of Tandem Mass Spectrometry enabled testing of a wide array of additional amino acid, organic acid, and fatty acid metabolic conditions so that currently in the United States, more than 50 genetic or metabolic conditions are tested. An overview of many of these screened conditions is provided along with resources for more information, although the number of documented, different conditions numbers in the thousands, most of which cannot be diagnosed with current newborn screening technology. The provided resources provide excellent details and emphasize the importance of proper prenatal and postnatal pediatric care and monitoring to identify these conditions if they arise. Most conditions are treatable with proper nutritional restrictions.