by Dr. Ramaz Mitaishvili
For almost 30 years, CDC's Environmental Health Laboratory has been the only comprehensive source in the world for quality assurance and proficiency testing involving the testing of newborns for preventable diseases. If these diseases are not accurately diagnosed and treated, they cause mental retardation, severe illness, and premature death in newborns.
Within 48 hours of a child's birth, a sample of blood is obtained from a "heel stick," and the blood is analyzed for treatable diseases, including phenylketonuria, sickle cell disease, and hypothyroidism. More than 98% of all children born in the United States are tested for these disorders. The sample, called a "blood spot," is tested at a state public health or other participating laboratory. CDC's Environmental Health Laboratory evaluates the performance of all participating laboratories (73 domestic and one or more laboratories in 53 other nations), ensuring that they analyze the blood spots correctly and providing technical assistance to resolve any diagnostic problems.
Each year, at least 5 million babies in the United States are tested for these diseases, and severe disorders are detected in about 4,000 newborns. Accurate screening ensures that-
- Affected babies are identified quickly.
- Cases of disease are not missed.
- The number of false-positive results is minimized.
Early treatment will begin that will prevent negative and irreversible health outcomes for affected newborns.
Thousands of children are living healthy and productive lives as a result of newborn screening and the CDC Environmental Health Laboratory's quality assurance and proficiency testing program.
