At just two days old, babies in the United States are tested for a variety of metabolic and genetic disorders.
Every newborn is screened for at least two diseases: congenital hypothyroidism and phenylketonuria, also known as PKU. Infants are tested for other disorders depending on the screening program in the state in which they are born.
In Maryland right now, babies are screened for nine different genetic disorders, including sickle cell disease and galactosemia. Newborn screening in Maryland is considered voluntary. This means that all parents must be informed about and offered the testing, but parents must consent to have the testing done; almost all do. "The State of Maryland is expanding their program, and by September, will be screening newborns for an additional 13 disorders," explains Dr. Miriam Blitzer, director of genetics at the University of Maryland Hospital for Children.
The screening requires taking a sample of blood from a baby's heel. Droplets of blood are collected on a piece of filter paper that is sent to a laboratory for analysis.
"This testing is important because if we identify certain disorders early enough, we can successfully treat the infant and prevent serious consequences, such as mental retardation," said Blitzer.
"Maryland is unique in that babies are screened twice. The first one occurs before babies leave the hospital and then they are screened again roughly two weeks later at the pediatrician's office," he said.
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