By marki wong and rebecca den hollander
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Genetic testing for inherited Diseases - Cystic Fibrosis. By: Marki Wong and Rebecca den Hollander. What is Cystic Fibrosis?.

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By: Marki Wong and Rebecca den Hollander

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By marki wong and rebecca den hollander



for inherited


- Cystic Fibrosis

By: Marki Wong


Rebecca den Hollander

What is cystic fibrosis

What is Cystic Fibrosis?

  • It affects the mucus glands, causing problems in the lungs and pancreas, leading to malabsorption and malnutrition; it can also cause male infertility. Usually diagnosed in the first years of life.

  • It is treated by focusing on clearing the airway, because 90% of affected individuals die from lung damage. The average life span is 30 years. Much milder forms of the disease are not detected until adult life.

By marki wong and rebecca den hollander

  • Cystic fibrosis (CF) is a common autosomal recessive disease which mostly affects Caucasians of Northern European descent.

  • The probability of having a child with Cystic Fibrosis is 1 in 2500 and there is a 1 in 25 chance that you are a carrier.

Carrier Carrier

Carrier Unaffected Affected Carrier



  • Thick, sticky mucus secretions in the lungs

  • Repeated infections: The accumulation of sticky, thick mucus in the lungs creates a favorable environment for infectious microorganisms to inhabit and grow.

  • Feces is pale or clay colored, foul smelling, or floating

  • Recurrent pneumonia

  • Chronic cough, possibly with blood streaking

  • Wheezing

  • Bronchitis

  • Chronic sinusitis

  • Asthma

  • Nasal polyps (fleshy growths inside the nose)

  • Weight loss, failure to thrive in infants, abdominal swelling

By marki wong and rebecca den hollander

  • Excessive salt in sweat, dehydration

  • Failure of newborn to expel feces

  • Abdominal pain, flatulence

  • Fatigue

  • Changes in color and amount of sputum (material coughed up from the lungs)

  • Enlarged fingertips (clubbing)

Carrier testing for cystic fibrosis

Carrier Testing for Cystic Fibrosis

The same test is then done on the father’s blood, as both parents must be carriers in order to have a child with Cystic Fibrosis. If the father and mother are carriers, there are two tests which can be performed on the fetus in order to find out if they have Cystic Fibrosis.

  • Firstly, the mother is tested to see if she is a carrier. This is done by karyotyping. 5 mL of room-temperature blood is taken and a solution is placed in the blood, called sodium heparin or ACD. If the gene, which is located on chromosome 7, is mutated, she is a carrier.

Pre natal testing for cystic fibrosis

Pre-Natal Testing for Cystic Fibrosis

  • Once both parents have tested positive as carriers of Cystic Fibrosis, the parents can decide to test the fetus, these tests can be performed:

  • CVS (chorionic villus sampling), a test where a catheter or needle is used to remove a piece of the placenta. This test can be done at 10-12 weeks.

  • Amniocentesis, where a needle takes fluid around the fetus to test it for the mutation.

This is done around the 16th week of pregnancy. Early amniocentesis is the same test as amniocentesis, except it can be done before the 15th week. Possibly between the 10th – 14th week.

Pro s for prenatal testing

Pro’s- for Prenatal Testing

  • There are several pro’s for this genetic research. In the pre-natal testing, the parents have the ability to choose to continue with the pregnancy or not.

  • Also, the preparation for having a child with Cystic Fibrosis is very difficult. Therefore, if the parents discover with this test that their child will have Cystic Fibrosis, it gives them time to come to grips with the consequences, emotionally, physically and economically.

  • If the cost of testing is covered by your insurance company it is more likely that you would get the prenatal testing to be assured.

Cons for prenatal testing

Cons for Prenatal Testing

  • The child’s safety could be jeopardized in amniocentesis or CVS

  • The test is not perfect and will not identify all carriers or fetus with Cystic Fibrosis

  • If the cost of testing is not covered by your insurance company, it can be expensive to be tested.

Would you want to know

Would you want to know?

  • There are many reasons why people choose to have genetic testing for cystic fibrosis and many reasons why people choose not to. We’ve compiled a list of the pros and cons for being tested for cystic fibrosis.

Why some people get tested

Why some people get tested

  • They have a relative with cystic fibrosis.

  • They are of an ethnic group that is at high-risk for carrying CF mutations.

  • They would consider having prenatal testing (amniocentesis or CVS) if both partners are found to be CF carriers.

  • They want information to prepare for having a child with special needs.

  • They would use the information to help decide whether or not to continue a pregnancy.

  • They think that their risk for being a carrier is high.

  • Results would help them make important decisions about health and family.

  • They can afford to pay for testing or know that testing is covered by insurance.

Why some don t get tested

Why some don’t get tested

  • They do not consider their risk for being a carrier high.

  • They are not from an ethnic group that is considered high-risk.

  • They would not use the information to make decisions, such as whether to have prenatal diagnosis (amniocentesis or CVS) or whether or not to continue a pregnancy.

  • They know that the test does not look for all possible mutations, and that test results cannot entirely guarantee that someone is not a CF carrier.

  • They cannot afford to pay for testing or do not have insurance coverage.

  • They do not want test results in their medical record.

So what s it like

So what’s it like?

  • We chose to do our presentation on cystic fibrosis because one of our families has been affected by this disorder, meaning that one of us is most likely a carrier. It is more common than people think and many will never realize that they are carriers.

  • However, this research has only informed us – we still have no idea what it’s actually like to have cystic fibrosis, so we’re conducting a little experiment 

  • Now imagine trying to concentrate in class when you’re breathing like that most of the time. Imagine doing any type of exercise, or even just making a speech or presentation.

  • Imagine living your life knowing that you will likely die by the age of 30.











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