In addition to screening for hearing and heart defects, most babies also receive a genetic test shortly after birth.
“Our goal is to identify babies with genetic diseases so that we can intervene and save these babies from serious health problems and potentially death,” said Jennifer Burton, genetic counselor at OSF HealthCare Children’s Hospital of Illinois.
Why a newborn screening test is important
Screening tests have been a standard part of newborn baby care since the 1960s, although testing capabilities have vastly improved in that time.
“In the 1960s, we tested for one disease. Now, in Illinois, we test for more than 50 diseases,” Jennifer said.
Some conditions can be diagnosed through a physical exam, but certain genetic conditions may not be obvious to doctors or the parents of a newborn.
Some genetic diseases could go undetected for weeks or even months if it weren’t for a genetic test.
A newborn screening test can help detect:
What to expect
Generally, a genetic test is done at least 24 hours after the baby is born, before he leaves the hospital. Babies born at home can usually receive this test from the midwife who delivered them.
To perform the test, providers need a small amount of blood from a baby. This is usually done with a heel stick, the least traumatic way to collect a blood sample from a baby.
The provider will need to collect a few drops of blood on special paper. The whole process can take about 10 minutes.
The screening test is not used alone to diagnose genetic conditions. Instead, the test will return one of two results: normal or abnormal.
If the result is normal, this will be shared with your child’s pediatrician, who can mention it at their first appointment.
An abnormal result means that your child needs more tests. If your child receives this screening result, they will likely be referred to a genetic counselor like Jennifer for more information.
An abnormal result is not enough to diagnose a genetic condition and is not necessarily a cause for alarm.
While an abnormal result increases the chances that a child has a genetic disorder, there are other possible reasons for an abnormal newborn screening test. It could indicate that the child is a carrier of a genetic disease, which means that he has a gene that causes the disease but will never develop any symptoms.
The next step is usually a blood or urine test to find more information. More tests or exams may follow, depending on the results.
“We try to guide the family through what was the concern in the newborn evaluation, what follow-up tests we will do. And then we explain that everything is normal or how to follow up with our clinic, ”said Jennifer. “We know that it is very stressful for families adjusting to life at home with a newborn. And it can be really confusing, so we want to make the process as easy as possible. “