CFTR-related disorders

CFTR-related disorders may include a range of mild symptoms related to cystic fibrosis (CF). CF is typically a childhood-onset condition in which abnormally thick mucus production can cause a variety of symptoms, including recurrent respiratory infections and progressive lung disease, reduced pancreatic function which affects nutrition and can lead to poor growth. Infertility in affected males is common.

Individuals with mild CFTR-related disorders do not typically have lung or pancreatic involvement. However males may experience infertility due to CAVD, which does not affect sperm production but prevents it from being part of the ejaculate.

Quick facts about CFTR-related disorders
Genes: CFTR(5T)
Inheritance: Autosomal Recessive
Alternative Names: CF-related conditions, CFTR related conditions, 5T variant
Relevant resources for CFTR-related disorders

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is CFTR-related disorders inherited?

CFTR-related disorders is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.

If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.

If both parents are carriers of CFTR-related disorders, there’s a one in four chance that their children could develop symptoms.
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What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes CFTR-related disorders, but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for CFTR-related disorders before or early in pregnancy?

The biggest benefit of screening for CFTR-related disorders is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

Since 90% of children that have a recessive genetic disease like CFTR-related disorders had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.

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