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What is Cystic Fibrosis?
Cystic fibrosis is one of the most common serious inherited diseases. People
with cystic fibrosis have excessively thick mucus produced by the body, causing
blockages in several of the body’s organs. Cystic fibrosis does not affect
the appearance or intelligence of a person, but requires lifelong medical care
and can drastically reduce a person’s lifespan.
What causes Cystic Fibrosis?
Cystic Fibrosis is caused by mutations in the cystic fibrosis gene. There
are normally two copies of every gene and cystic fibrosis occurs when both
copies of the CF gene are abnormal. A person with only one abnormal copy of
this gene is known as a carrier, and has no known health problems. However,
if both parents pass an abnormal copy of the gene to their child, the child
will be affected.
What are my chances of being a carrier?
The chances of being a carrier is dependent on your ethnic background. A person
who is Northern European or of Jewish Eastern European ancestry has approximately
a 1 in 25 chance of being a carrier. A person who has Hispanic ancestry has
approximately a 1 in 46 chance of being a carrier, and a person of African
American ancestry has approximately a 1 in 65 chance of being a carrier.
In addition, family history is important. If
a relative has CF or is a carrier for CF, the
chance of being a carrier is greatly increased. When
both parents are carriers, any child they have
has a 1-in-4 (24%) chance to inherit a changed
copy of the gene from each parent and will have
cystic fibrosis.
How do I find out if I am a carrier?
There is a DNA test available which can detect a majority of CF carriers. This
is a simple blood test which detects approximately 90% of mutations.
Who should consider being tested for Cystic
Fibrosis?
It is recommended that CF testing be made available to couples seeking preconception
or prenatal care in ethnic or racial groups considered at higher risk for carrying
the CF gene. This includes those of Northern European or Ashkenazi Jewish
descent.
Other reasons people may consider testing include
if CF seems like a serious disorder, if the chance
of being a CF carrier seems high, or if you and
your spouse would consider prenatal diagnosis
to help you decide about continuing the pregnancy,
or to help you prepare for the birth of a baby
with CF.
Why should I think about Cystic Fibrosis testing
during pregnancy?
There is a CF test which can be done on prenatal specimens, such as amniotic
fluid. Prenatal testing is recommended to consider when both parents are known
to be carriers, or if there is are possible abnormalities seen on an ultrasound,
such as blocked intestines.
How can I get a Cystic Fibrosis test?
You can have this test ordered through your doctor’s office, or you may request
this test yourself. Blood is needed to run this test, so you will need to
have a sample drawn at a clinic, a lab, or in your doctor’s office. You can
order a sample collection kit, and request the sample be returned to us for
processing.
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