A Neonatologist discusses! Lots of life-threatening/ devastating diseases may present soon after birth in healthy appearing newborns. Diseases like: PKU, Hypothyroidism, CAH, Methylmalonic acidemia...// Why do we TEST for these DISEASES? And what other screening tests are done? WHO decides which tests? Learn all this and understand why newborn screens are SO important and life-saving in this SUPER Quick NICU nugget! --------------------------------------------------------------------- Please be sure to give us a like, comment about future topics, and subscribe to this channel to stay up to date on all things NICU! Also, click the notification bell after you subscribe to gain your weekly NICU knowledge as soon as it's loaded! --------------------------------------------------------------------- Dr. Tala is a board-certified neonatologist and has worked in busy level III and IV units for the past 15 years. She has won multiple teaching awards throughout her time as a neonatologist. ---------------------------------------------------------------------- References: https://www.cdc.gov/newbornscreening/index.html https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp
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Many countries have some version of the newborn screen,
and even in the US,
every state has slightly different newborn screens.
Basically though, it's when a little bit of blood
is taken from every single baby that's born,
NICU or full-time baby, from the heel,
so a little heel stick,
that blood is sent to the state lab,
and then the state tests it
for a whole panel of different diseases
which are basically inherited.
There's always a lot of conversation
about which diseases should actually be
on the newborn screen,
but basically each state can decide that,
and the diseases have to satisfy a few criteria.
So first of all, it has to be a disease
that can't be diagnosed by a physical exam.
So there isn't a newborn screen for Down syndrome
because you can diagnose Down syndrome
nearly all of the time just on physical appearances.
Two, the disease has to have a readily available test
which is not super expensive,
because remember, you're doing it
on every single baby born in the state.
Third, the disease has to be serious enough
that it's going to cause health problems early in life.
So we would check for eczema, for example,
which isn't necessarily a severe health problem,
or we wouldn't check for an increased risk of breast cancer
because that isn't going to affect the child early in life.
And fourth, it has to be a disease
that if we do catch it early enough,
there is a treatment or there is a way to prevent it
that it will majorly change the outcomes for those infants.
And this is probably the most key part of newborn screening.
So for example, checking for hypothyroidism
is a great example of a perfect test for the newborn screen.
It's easy to pick up.
And if you do actually catch the hypothyroidism,
you can give replacement thyroid hormone to the babies
and those babies will then be unaffected.
If you miss them
and they don't get the replacement thyroid hormone,
then it can lead to severe developmental disabilities.
In every country, a state organization kind of determines
which sort of tests should be on the screening panel.
Obviously, in different states,
especially in different countries,
there's going to be a slightly different combination
of genes and some diseases are going to be more common
than others.
Currently, there are 29 recommended inborn errors
of metabolism to be tested on the newborn screen.
As you all probably know, PKU, so phenylketonuria,
methylmalonic acidemia, and propionic acidemia,
all pretty common inborn errors of metabolism
are all on that screen.
I just want to say two more things about newborn screens.
The first one is, is by definition, they are screening tests
and by definition screening tests,
you want to pick up every single person with a disease.
So that also means that you're going to end up
with a lot of false positives.
So a lot of people that it says
that they have the disease, but they don't really.
All I can say is, is that you have to assume
that this is like a Peter Cried Wolf situation.
Assume that every single one is a true positive
and follow it up accordingly,
because otherwise you will end up
missing some true positives.
And the second thing I'll say is that the newborn screen
can sometimes take a week or two to come back.
And some of these diseases can present
before the newborn screen comes back.
So don't assume that the baby doesn't have it
because it's on the newborn screen.
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then please press like and write to us
and tell us where you're from.
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