Newborn Testing

Maintain a diet a balanced diet during pregnancy.

After you have had a successful delivery, there is one more step before taking your baby home. Depending on the state where you live, there are a number of different screening tests that your baby will receive. These tests are designed to detect any inborn disorders that could cause early mortality or lifelong disability. Generally, most states test for selected disorders and not all states perform the same screening tests. It is important to understand the tests that are available for your baby.

What tests can be performed after my baby is born?

According to the March of Dimes, there are tests for over 30 disorders. However, not every state tests for all of the following disorders. The March of Dimes believes that states should screen for the following 30 disorders:

1. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)

2. Argininosuccinic acidemia (ASA)

3. Beta-ketothiolase deficiency (BKT)

4. Biotinidase deficiency (BIOT)

5. Carnitine uptake defect (CUD)

6. Citrullinemia (CIT)

7. Congenital adrenal hyperplasia (CAH)

8. Congenital hypothyroidism (CH/HYPOTH)

9. Cystic fibrosis (CF)

10. Galactosemia-classical (GALT)

11.Glutaric acidemia type I (GA I)

12. Hb S/Beta-thalassemia (Hb S/Th)

13. Hb S/C disease (Hb S/C)

14. Hearing deficiency/loss

15. Homocystinuria (HCY)

16. Hydroxymethylglutaric aciduria (HMG-CoA lyase)

17. Isovaleric academia (IVA)

18. Long-chain 3-OH acyl-CoA dehydrogenase deficiency (LCHAD)

19. Maple syrup urine disease (MSUD)

20. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

21. Methylmalonic acidemia mutase deficiency (MUT)

22. Methylmalonic acidemia (Cbl A,B forms)

23. Multiple carboxylase deficiency (MCD)

24. Phenylketonuria (PKU)

25. Propionic acidemia (PROP)

26. Severe combined immunodeficiency (SCID)

27. Sickle cell anemia (SCA/Hb SS)

28. Trifunctional protein deficiency (TFP)

29. Tyrosinemia type I (TYR I)

30. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

The most common disorders subject to testing are Phenylketonuria (PKU), Congenital Hypothyroidisim, Galactosemia, Maple Syrup Urine Disease, Homocystinuria, Biotinidase, Sickle Cell Disease, Congenital Adrenal Hyperplasia and Cystic Fibrosis. The American Academy of Pediatrics recommends that a repeat specimen be taken 1 to 2 weeks later from infants whose initial testing occured during the first 24 hours from the time of birth.

What tests does my state screen for?

For a list of all the states in the US and what screening tests they perform you can go to the National Newborn and Genetics Resource Center. Newborn screening tests are required every state but, as previously stated, not all states test for the same disorders. If you do not wish to have specific tests performed on your child you must discuss your concerns with your health care provider.

How and when is the testing done?

Blood is drawn from the heel of the baby, known as the heel-stick test or "pku test", before the baby is discharged from the hospital or within a few days of birth. The March of Dimes (MOD) has a timeline for the best time to take the test.

Optimal time for taking blood specimen for testing: Baby is 3-5 days old or between the first 48-96 hours since birth.

Satisfactory time for taking blood specimen for testing: Baby is 2 days old or at least 24 hours since birth.

Limited results from blood specimen: Baby is 1 day old or less than 24 hours since birth.

There are two different testing types: newborn screening (NBS) and tandem mass spectrometry (MS/MS). The difference between the two tests is that MS/MS tests for many disorders at one time.

In most cases, you will not be notified if the results are negative. If the result is positive for any disorder, you will be notified immediately and further testing will be performed in order to confirm a diagnosis. Results can be abnormal if the blood was drawn too early, if the baby was premature, or for a number of other reasons.

Should I get additional screening tests for my baby?

There are many reasons why health care providers and hospitals do not perform certain tests. Reasons might include cost, low risk, availability of tests, insurance coverage and staffing. These tests are generated through a health care provider's written order. It is best to discuss any screening tests with your health care provider. Possible reasons for additional screening tests include:

Previously affected child
History of a previous infant death with possible metabolic disorder
At risk ethnic population
Family history of disorder
Premature birth

Health care providers might feel that additional testing is not necessary because the risk of the baby having a particular disorder is extremely low and/or the test is not available. However, there are kits for these tests that you can order from hospitals or laboratories. All you have to do is ask your health care provider for an extra blood sample.