10/23/2019 Helping People Live better Lives. 1
H el pi ng Peopl e Li ve B et t er Li ves. H el pi ng Peopl e Li ve B et t er Li ves. 1
Newborn Bloodspot Screening, What Home Visitors Need to Know…(and then some)
Recharge for Resilience Conference Kearney, Nebraska October 30, 2019
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What is Newborn (Blood‐Spot) Screening?
- EVERY baby born in Nebraska gets the screen.
- Collected at hospital after 24 hours but before 48
hours after birth.
- Five drops of blood from a heel‐stick.
- Shipped to lab in Pennsylvania.
- Tested for 32 rare diseases.
- (will share the list in a bit)
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Why is it done?
- You can’t tell by how the baby looks or acts that they have
these diseases.
- The diseases can cause severe damage to the brain,
deafness, blindness, organ damage, nerve and muscle damage, chronic illness and some even result in seizures, strokes or infant death.
- The test is the best way to detect these diseases before
damage has occurred and symptoms begin.
- For each of these rare diseases, there is an
effective treatment to prevent these problems!
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Is it accurate?
- The tests are highly sensitive and specific. However, they are a “screen” so:
- Some will be False Positives
- False Negatives are possible (extremely infrequent)
- The screening tests are NOT diagnostic. A positive screen means that baby is at
higher risk of having the disease, and must have further testing.
- Sometimes specimens are not acceptable for testing (e.g. not enough blood on
the filter paper cards) so repeat screens are needed.
- Sometimes specimens are collected too early, or too close to a
transfusion, so they can’t be tested for some of the diseases.
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What’s the hurry?
- For some of the diseases the damage to the brain or other organs
begins in the first days to weeks of life.
- The earlier we can get to a diagnosis and treatment the better it is for
the baby. If there are serious delays, there could be irreversible
- damage. Treatment would still prevent further harm. But the goal is to
prevent harm.
- For some of the diseases just not knowing, can result in infant death.
New moms might not recognize baby is not feeding well. If that baby has one of the metabolic diseases where “poor feeding” is a life threatening risk for triggering a metabolic crisis, they can die in the first days to weeks of life.
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Just how rare are these diseases?
- Some are found in only 1:100,000 babies, others as are as
common as 1:6,000.
- Of the group of diseases screened, the most common diseases
are Cystic Fibrosis and Congenital Primary Hypothyroidism.
- In Nebraska 1:500 to 1:600 babies will have one of these
screened diseases each year.
- Collectively in Nebraska we usually find between 50‐60 babies