In addition to screenings for hearing and heart defects, most babies also receive a genetic screening shortly after they are born.
“Our goal is to identify babies with genetic diseases, so we can intervene and save these babies from serious health problems and potentially death,” said Jennifer Burton, a genetic counselor at OSF HealthCare Children’s Hospital of Illinois.
Why a newborn screening matters
Screenings have been a standard part of care for a newborn baby since the 1960s, though the capabilities of the testing have greatly improved in that time.
“Back in the ‘60s, we tested for one disease. Now, in Illinois, we test for over 50 diseases,” Jennifer said.
Some conditions can be diagnosed based on a physical exam, but certain genetic conditions may not be obvious to doctors or parents of a newborn child.
Some genetic diseases could go undetected for weeks or even months if it weren’t for genetic screening.
A newborn screening can help detect:
- Amino acid disorders, such as classic phenylketonuria (PKU)
- Blood disorders, such as sickle cell disease or sickle cell anemia
- Endocrine disorders, such as primary congenital hyperthyroidism (CH)
- Metabolic disorders
- Other disorders (See a full list of conditions for Illinois or Michigan)
What to expect
A genetic screening is usually performed at least 24 hours after a baby is born, before they leave the hospital. Babies born at home can usually receive this screening from the midwife who delivered them.
To perform the screening, providers need a small amount of a baby’s blood. This is usually done with a heel stick – the least traumatic way to collect a blood sample from an infant.
The provider will need to collect a few drops of blood onto a special kind of paper. The whole process can take about 10 minutes.
The screening is not used alone to diagnose genetic conditions. Instead, the screening will yield one of two results: normal or abnormal.
If the result is normal, this will be shared with your child’s pediatrician, who may bring it up at your first appointment.
An abnormal result means your child needs more testing. If your child receives this screening result, you will likely be referred to a genetic counselor like Jennifer for more information.
An abnormal result isn’t enough to diagnose a genetic condition, and it isn’t necessarily cause for alarm.
While an abnormal result increases the chance a child has a genetic disorder, there are other possible reasons for an abnormal newborn screen. It could indicate the child is a carrier of a genetic disease, which means they have a gene that causes the disease but will never develop any symptoms.
The next step is usually blood or urine testing to find more information. Further testing or examinations could follow, depending on the results.
“We try to walk the family through what the concern was on the newborn screening, what follow-up testing we will do. And then we explain either that it’s all normal or how to follow up with our clinic,” Jennifer said. “We know it’s really stressful for families who are 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.”