Saving 5,000 babies each year


5,000 babies. That’s a lot of babies.

That is the approximate number of babies born each year with a condition detectable by newborn screening in the US. This means that thousands of newborns are identified and able to receive treatment preventing permanent health and developmental damage.
In some cases, these treatments save the baby’s life before they ever even have a symptom. I don’t know about you, but I think that’s pretty impressive.

While many new parents may be aware that their baby gets a little heel stick before they are sent home from the hospital, most probably do not realize
the full extent of what goes on behind the scenes once that dried blood spot card is collected and what it could mean for their baby’s health.
Given that it is probably one of the most successful public health initiatives of all time screening millions of babies over the last 54 years
of its existence, newborn screening tends to fly under the radar as an unsung hero in healthcare.

September is Newborn Screening Awareness month!

So we want to take this opportunity to share some facts about newborn screening, acknowledge the teams of healthcare providers and laboratories that
make these programs possible, and let some of the amazing parents we work with at the Greenwood Genetic Center share their story with you. Read
on below for more info and stay tuned for the rest of the month for more posts!

Let’s start with some basic facts.

What is newborn screening? How is it done? And, what conditions are included?

Each baby born in the US is required by law to have newborn screening. For most babies, this means they get a heel stick after the first 24 hours of
life before they are sent home from the hospital. Several drops of blood are collected on a filter paper card and then sent to a state lab for
testing. In addition to the blood test, newborn screening also includes a hearing screen in all states and pulse oximetry (to screen for heart
defects) in some states. Each state in the US runs its own newborn screening program, so the number of conditions included and the process for
the screening varies from state to state. The Recommended Uniform Screening Panel, or “RUSP”, is a list of 34 core conditions recommended on a
national level to provide some guidance and consistency among the individual state programs. Most states screen for at least these 34 core conditions,
but some states elect to screen for more and may include closer to 60 conditions.

How do you decide which conditions to test?

In order for a condition to make it on the list for newborn screening, it has to meet some criteria first. These include:

  • A “good” screening test for that condition exists. “Good” means that the test is sensitive and specific enough to pick up all
    babies with the disorder without too many false positives. It must also fit somewhat within the current structure and methods of newborn
    screening and be cost effective since millions of babies will be screened every year.
  • An effective treatment is available for the condition.
  • There is evidence to support the benefit of screening babies at birth before any symptoms may be present. This means that by identifying
    these babies right after birth and starting treatment early, future health complications or cognitive impairment can be lessened or prevented
    altogether before any symptoms are even present. Without newborn screening, these babies wouldn’t be diagnosed until much later when symptoms
    develop and by then, irreversible damage will have already occurred.

So, how does GGC figure into all of this?

In South Carolina, the Greenwood Genetic Center (GGC) has a long standing relationship with the Department of Health and Environmental Control’s (DHEC’s)
SC Newborn Screening Program. The Center follows-up
on screening results that are abnormal for one of the inherited metabolic or genetic conditions included on the panel. This is where the GGC’s Clinical Metabolic Team comes in. The team includes metabolic geneticists, a genetic counselor, dietitians, a psychologist, and clinic coordinators. Initially, they consult
with the pediatricians and recommend any additional testing. Once the diagnosis is confirmed, the metabolic team will follow that child on a regular
basis. They educate the family about the diagnosis and counsel them on the recurrence risk. They initiate and manage a treatment plan as well as
help the family navigate other medical and developmental needs related to their diagnosis.

The GGC Diagnostic Laboratory performs much of the follow-up testing for these abnormal
screens as well as the tests used to monitor the effectiveness of the treatment or diet. The tests that are done as part of the NBS follow-up process
have some of the fastest turnaround times of any of our tests in the lab. Getting an answer fast is critical for these babies so treatment can
begin as soon as possible. This experience and expertise has allowed the GGC Diagnostic Lab to expand outside of South Carolina. The lab now also
works with a few other states in providing follow-up testing for some of the lysosomal storage disorders recently added to the NBS programs in
other states and hopes to continue to grow these services.

We are proud of our metabolic clinical team and the diagnostic lab contributions to newborn screening in South Carolina and look forward to sharing
more with you throughout the month!


Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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