Newborn Screening

Now that you have had your baby and the delivery was a success there is still one more thing to do before your baby heads home. Depending on what state you live in, there are a number of different screening test that your baby will receive. These tests are intended to detect inborn disorders that could result in early mortality or lifelong disability. Generally, most states only test for selected disorders and not all states do the same screening tests. It is important to be informed about any and all tests that are available for your baby.

Q: What tests can be performed after my baby is born?
A:: According to the March of Dimes (MOD), there are tests for over 30 disorders. However, not all states test for all of these disorders. The March of Dimes feels that states should screen for at least 30 specific disorders. The following list of these 30 disorders also includes the amount of babies affected if the data is known:

  1. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)
  2. 3-OH 3-CH3 glutaric aciduria (HMG)
  3. Argininosuccinic acidemia (ASA)
  4. Beta-ketothiolase deficiency (BKT)
  5. Biotinidase deficiency (BIOT) 1 in 60,000
  6. Carnitine uptake defect (CUD)
  7. Citrullinemia(CIT)
  8. Congenital adrenal hyperplasia (CAH) 1 in 19,000
  9. Congenital hypothyroidism (HYPOTH) 1 in 3,000
  10. Cystic fibrosis (CF) affects approximately 30,000 children and adults in the United States
  11. Galactosemia (GALT) 1 in 50,000
  12. Glucose-6-phosphate dehydrogenase deficiency (G6PD)
  13. Glutaric acidemia type I (GA I)
  14. Hb S/Beta-thalassemia (Hb S/Th)
  15. Hb S/C disease (Hb S/C)
  16. Hearing deficiency 3-4 in 1,000
  17. Homocystinuria (HCY) 1 in 350,000
  18. Isovaleric academia (IVA)
  19. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)
  20. Maple syrup urine disease (MSUD) 1 in 230,000
  21. Medium chain acyl-CoA dehydrogenase deficiency (MCAD)
  22. Methylmalonic acidemia (Cbl A,B)
  23. Methylmalonic acidemia (mutase deficiency) (MUT)
  24. Multiple carboxylase deficiency (MCD) 1 in 20,000
  25. Phenylketonuria (PKU) 1 in 14,000
  26. Propionic acidemia (PROP)
  27. Sickle cell anemia (SCA) 1 in 400 African Americans and at lower frequency among Hispanics, Mediterranean, Middle Eastern and South Asian descent
  28. Trifunctional protein deficiency (TFP) s
  29. Tyrosinemia type I (TYR I)
  30. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

The most common disorders that are tested for 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 test was taken within the first 24 hours of life.

Q: What tests does my state screen for?
A: For a list of all the states in the US and what screening tests they do you can go to the National Newborn and Genetics Resource Center Newborn screening tests are required by the state and are mandatory. If you do not wish to have these tests performed you must discuss this with your healthcare provider.

Q: How and when is the testing done?
A: Blood is drawn from the heel of the baby, also known as the heel-stick 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 of life.

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 these two tests is that MS/MS tests for many disorders at one time.