Newborn Screening

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

Q: Should I get additional screening tests for my baby?
A: There are many reasons why doctors and hospitals do not perform certain tests. These reasons could be due to cost, low risk, availability, insurance and staffing. These tests are provided through a doctor's written order and it is best to discuss any of these screening tests with your doctor. Possible reasons to consider additional screening tests would be:

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

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

Reprinted with permission from American Pregnancy Association