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Supplemental Newborn Screening is designed to identify common metabolic diseases. Metabolic diseases rarely occur. Approximately one in every 5,600 newborns is affected. 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. And with early diagnosis and treatment, metabolic disease often can be managed effectively.
A metabolic disease is a disorder caused by problems with 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.
The State of Texas routinely performs newborn screening that is designed to identify common metabolic diseases. Supplemental New Screening checks infants for 30 additional disorders. All are rare, but if caught early, treatment can be more successful.
The chances are excellent that your baby won’t have one of these disorders. However, the few children who are born with metabolic problems come from families with no history of metabolic disease. That’s why we recommend this test.
When your baby is 24 hours of age and two weeks of age, the test is performed by pricking your baby’s heel and collecting a small sample of blood. You will be asked to sign a consent for this procedure.
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 a retest or an additional test may be requested. The most common reason for a retest is that the first sample contained too little blood for adequate testing.
Your doctor, or genetic counselor can discuss this with you. These specialists have information about the specific disorder and how it is inherited. They can help you understand any risks for your future children.
Supplemental Newborn Screening for metabolic disease is a simple test that can be important to your baby’s health. For more information, call 1.800.4BAYLOR.
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