If you have had a baby before, you may remember this test. This test is commonly called the PKU test although PKU is just one of the rare conditions that it tests for. Each state tests for a different number of conditions. In Texas, we test for 31 conditions and 24 sub conditions. More information can be found on those conditions at the Department of State Health Services website.
What is the newborn screening?
The newborn screening test is done by sticking the baby’s heel and using the blood to fill 5 circles on a card. In Texas, it is done twice. The first time, the test is performed in the first 48 hours. The 2nd test is done between the first and second weeks of life. Two tests are done because some conditions are more likely to show up earlier and others later. Occasionally a baby may have a false positive result or be a silent carrier. The 2nd test can help rule out a false positive. Some of the more commonly known conditions that it tests for are congenital hypothyroidism, cystic fibrosis, and sickle cell anemia. Some of the tests are more common in certain races, like sickle cell is more common in black people.
Why are these tests important?
Finding and treating these disorders early can prevent serious complications such as growth and developmental delays, deafness, blindness, intellectual disabilities, seizures, and sudden or early death. Some of these conditions have simple solutions. The condition Galactosemia is one of the conditions checked for. People who have it can’t break down galactose which is a sugar found in milk. Simply switching from breastfeeding or a dairy formula to soy can help prevent cataracts, liver cirrhosis, intellectual disability and/or death.
What happens to the blood?
During each test, your care provider should provide you with a form to sign saying that you give the state permission to keep the blood on file or that it needs to be destroyed after 2 years. In addition to the genetic testing, the state might use that blood for:
- DSHS and external quality assurance to make sure tests, equipment, and supplies are working right
- Developing new tests; and/or
- DSHS studies of diseases that affect public health.
What if I don’t want my baby tested?
The only legal reason to refuse newborn screening is if it conflicts with your religious tenets or practices. Previously the state of Texas just required care providers to have that refusal documented in their file. There is now a form that we are being required to mail in documenting that refusal. Some people refuse because they are not comfortable with the state having their blood on file at all. For these people, testing can be done through private companies, PerkinElmer Genetics, Inc.
Did you have any concerns about this test? Did you choose to opt out? Why or why not?