Services and Programs
Pediatric Pulmonology
Newborn Screening for Cystic Fibrosis (CF)
We serve as a designated follow-up treatment center for the
New York State Newborn Screening Program providing:
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Genetic counseling
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Consultation
About Screening
Before your newborn baby came home from the hospital, a small
amount of blood was taken from his or her foot for New York State's
Newborn Screening Program. Your hospital may have given you a pamphlet,
"For Your Baby's Health" that describes the diseases
screened for by this program, which include cystic
fibrosis. You may also have a pink form with your baby's ID
number on it. Babies are screened to ensure that they receive
timely
referral and treatment. If you didn't receive the pamphlet, you
can order it from the
New York State Department of Health.
What Happens If My Baby Had A Positive Cystic Fibrosis Newborn
Screening Result?
Babies who have one mutation identified or whose immunoreactive
trypsin is in the 0.2% of results without identifiable mutations
are called screen positive. Since we serve as a designated
follow-up treatment center for the New York State Newborn Screening
Program,
these babies are referred to us
for sweat testing and genetic counseling and
consultation. The sweat test measures how much salt is in your
baby's sweat
and is
the best way of checking for CF. Keep in mind that most
babies who get a sweat test do not have CF, but it's important
to "rule
it out."
What Happens If Newborn Screening Identifies My Baby As A Cystic
Fibrosis Carrier?
A positive CF carrier test result means that your baby
has inherited an abnormal gene from either you or your partner
and is a CF carrier. A carrier has no signs of CF and will
never develop
the disease.
Whenever
a carrier has a baby, there's a chance the abnormal gene
will be passed on. This can occur for generations without any
baby
being born with CF. However, if two CF carriers (or a carrier
and a person with CF) have a baby, there is a
one in four
chance that the baby could be born with CF (he or she would
get an abnormal gene from both parents).
There are implications
for both you and your child:
- You and your partner may want to undergo CF carrier testing.
If you both turn out to be CF carriers, genetic counseling
could help you understand your risk of having a child
with
CF
in the
future.
- Your child may want to do the same when he or she grows up
and is ready to have a child of his or her own.
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