1.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. And with early diagnosis and treatment, metabolic disease often can be managed effectively.
2. Why does my baby need an additional test?All states routinely perform newborn screening that's designed to identify only a few common metabolic diseases. Supplemental newborn screening checks infants for 30 other disorders. All are rare, occurring in approximately one in every 5,600 newborns, but if caught early, treatment may be more successful.
3. Will this screen cover Newborn Screening tests recommended by the March of Dimes and the American College of Medical Genetics (ACMG)?The screen includes the majority of the disorders recommended by the March of Dimes and the American College of Medical Genetics (ACMG). Our specialty is screening for genetically inherited metabolic diseases using Tandem Mass Spectrometry (Tandem MS or MS/MS). Other tests recommended by the March of Dimes and the ACMG are offered by mandatory state screening programs and utilize other technologies. Check with your state department of health to see which tests are included in the state newborn screening program.
4. 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, which is why we recommend this test.
5. How are the tests performed?When the state-required test is performed, a sample of blood is taken by pricking your baby's heel. For the supplemental newborn screening, a small sample of this blood is also dried on a piece of special absorbent paper, which is sent to a lab at the Institute of Metabolic Disease at Baylor.
6. When would the sample be collected from my baby?The specimen can be collected before your newborn leaves the hospital or in your pediatrician's office. The optimal time to collect the sample is while your baby is still in the hospital and at least 24 hours after delivery.
7. Can my older child be tested? Yes, the screening can be performed on children of all ages.
8. 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 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.
9. What does an abnormal result mean?Parents should not be overly alarmed by abnormal screening results as screening gives only preliminary information that must be followed by more precise confirmatory testing.
10. Can these disorders be cured?There are no cures for these diseases. The serious effects of most of the disorders can be reduced and sometimes completely prevented if treatment is started early.
11. If my baby has one of these diseases, does it mean my future children will also be affected?Your doctor, genetic counselor or a staff member of the Institute of Metabolic Disease can discuss this with you. These specialists have information about the specific disorder and how it is inherited. From this, they can help you understand any risks for your future children.
12. Are the tests guaranteed?Although certain metabolic diseases are detectable through the screening process, under no circumstances can we guarantee that the screening process will detect the existence or non-existence of each of the diseases identified. The screening process is not a diagnostic test but is a tool to be utilized by healthcare providers to assist them in attempting to detect the existence of a number of diseases. The detection of these diseases is dependent upon a number of factors, some of which are outside the parameters of the screening services performed.
13. How can I get more information or purchase a test kit?Supplemental newborn screening for metabolic diseases is a simple test that can be important to your baby's health. For more information, or to purchase the $35 test kit, call 1-800-4BAYLOR (1-800-422-9567) or e-mail your request by
clicking here.