Pediatric Associates of Austin, P.A.
Frequently Asked Questions About Newborn Screening
What exactly is a metabolic disease?
A metabolic disease is a disorder caused by the accumulation of chemicals produced naturally in the body. These diseases are usually serious, some even life-threatening. Others may slow physical development or cause mental retardation. Unfortunately, at first most infants with these disorders show no obvious signs of disease. The good news is that proper screening at birth can often discover these problems. With early diagnosis and treatment, metabolic disease can often be managed effectively.Why does my baby need an additional test?
The state of Texas is now routinely performing newborn screening for 27 disorders. Supplemental newborn screening checks infants for 19 to 20 other disorders. All are rare, occurring in approximately one in every 5,600 newborns, but if caught early, treatment may be more successful.No one in my family has ever had such a disease. Do I still need these tests?
The chances are excellent that your baby won't have one of these disorders. However, the few children who are born with metabolic problems can come from families with no history of metabolic disease.How are the tests performed?
All three screens require a small sample of blood collected by pricking your baby’s heel. The blood is absorbed onto small circles on special filter cards, dried and mailed to the appropriate lab. By choosing to receive one of the additional screens at the same time as the Texas mandated test, only one prick is required, thus avoiding an extra heelstick for your infant.When will I be told of the results? Normally, you'll be contacted by your doctor only if a problem has been found. Please notify your doctor if you move or change your phone number soon after your baby is born. With these kinds of diseases, being able to contact you is critical. Occasionally an additional test may be requested.
