What parents need to know about newborn screening

Prepping for newborns can be a full-time job. From creating a baby registry to decorating a nursery to picking out a name, even something as important as finding a pediatrician can fall lower on the priority list. When the baby is born, parents rely on hospitals to take care of the early intervention testing for genetic diseases through newborn screening programs provided by each state, which are not standardized.

In Illinois, newborns are screened for 63 conditions within the first 24-48 hours of life. Each state tests for different diseases, most of which are found on the RUSP (Recommended Uniform Screening Panel), a list of recommended conditions for states to screen for, developed by the federal government. Some states screen for as few as 33 conditions. That is a significant difference.

But the screening done in Illinois doesn’t catch everything. Thankfully, technology has advanced and there are options that allow parents to choose additional newborn screening for their newborns that looks for genetic conditions and other risks, giving them peace of mind.

Screen more and screen early

Within 24-48 hours of your baby’s life, healthcare providers at the hospital will conduct a hearing test and check for other conditions like PKU or sickle cell disease. Still, some genetic conditions that aren’t screened for appear in seemingly otherwise healthy babies later in life.

For example, a positive result for a test for hereditary fructose intolerance, which isn’t part of the Illinois screening or any state screening, would allow parents to know in advance to avoid apples and pears when they begin to introduce foods before their baby shows signs of rejecting simple sugar.

What is additional newborn screening?

Parents have the choice to screen their newborn for genetic diseases not covered by standard state testing. Similar to mapping a family tree, an additional sample can be sent to a lab out of state for testing with results back in a week.

Eli, a newborn screening service, tests for 32 treatable genetic conditions and risks that aren’t covered by state testing. Since every condition screened for by Eli is treatable, early diagnosis and treatment can lead to better outcomes.

It’s OK to spit

Using a blood sample and saliva sample collected shortly after birth, Eli uses the same sample collection guidelines as the state in screening for genetic conditions in babies who appear otherwise healthy.

Buying a kit

  • Visit eliscreen.com to learn more about Eli and order a kit before your due date. That way, the kit will be available when your new bundle arrives. The cost of the test is covered for parents with most health savings accounts or savings debit cards.
  • The necessary samples will be collected at the hospital shortly after birth or by YOUR family pediatrician and then sent to the Eli lab for testing. Instructions and everything your pediatrician needs is included in the kit.
  • You will receive the results for your baby in about a week — a full report and access to genetic counseling is included in the service.
  • Why a genetic counselor? They help families understand the lab results as well as answer any questions that you and your family may be facing. Genetic counselors are available throughout the entire Eli process for any questions.

If you are attending MommyCon this weekend in Rosemont, make sure to stop by the Eli booth to learn more about additional newborn screening and purchase your kit!

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