Answer
Newborn genetic screening is a public health program that evaluates for potentially treatable genetic disorders of body metabolism. These rare conditions can abnormally affect the physical and mental development of an infant and may even be life threatening depending on the severity of the symptoms. If these disorders are diagnosed early, many of the serious effects can be lessened or completely prevented. The newborn screen also allows for detection of carriers of certain genetic disorders.
The Texas Department of State Health Services receives approximately 800,000 newborn screening specimens per year. The screening process returns, on average, 12,000 abnormal results that require follow up and 400 infants are actually diagnosed with a disorder.
This test involves obtaining a sample of blood from the baby's heel, usually at the hospital where the baby is delivered. The sample is sent to a laboratory and a report returned to your doctor.
Just this year, Texas has adopted an expanded screening program that increases the number of conditions tested from 7 to 27.
NOTE: Dr. Dudley provided more information on this subject in a recent story entitled Improving Newborn Genetic Screening.
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