Pregnancy & The Cystic Fibrosis Test

Cystic fibrosis is sometimes referred to as mucoviscidosis, and is known as a particular class of inherited illnesses called autosomal recessive. Recessive genetic disorders are ones that can only be passed down if each parent carries a copy of the abnormal, disease-causing version of the gene. Everyone has two copies of each gene, one from each parent, and people who possess only one copy of a diseased variant of a gene are called carriers as they are unaffected by the illness, but can potentially pass it on to their children.

What is Cystic Fibrosis?

Cystic fibrosis is a relatively well-known disease in the UK as it occurs more frequently than other genetic diseases. The classic symptom of Cystic Fibrosis is a significant difficulty in breathing, and this is a consequence of lung infections which occur regularly because the defective genes cause the abnormal secretion of mucus. Mucus is a thick liquid substance which usually lines our airways to keep them clean and damage free, however in the quantities produced by cystic fibrosis, this mucus is very harmful.

Other parts of the body are affected by cystic fibrosis, and these include the pancreas and liver. The disease actually gets its name from scarring of the pancreas (fibrosis) caused by abnormal growths (cysts).

Cystic fibrosis is more prevalent amongst European Caucasians, affecting about one in approximately 2,000-3,000 newborn children within Europe according to research done by the World Health Organisation (WHO). In the UK alone Cystic Fibrosis affects about 9,000 people, and in the UK as many as 5 infants a week are born with Cystic Fibrosis, while 2 a week will die because of the illness.

Cystic fibrosis is only treatable by lung transplant in the long run, and has a profound effect on families and patients alike.

How and when to test for Cystic Fibrosis.

Parents can test for Cystic Fibrosis prior to conception through a genetic screen. This type of test is becoming increasingly popular as it gives future parents a chance to find out what the chances of their child developing the illness are. This can have a major impact on any decision a couple may make about having a family.

If both parents are unaffected by Cystic Fibrosis and yet are carriers of the disease causing gene, the chances of a child from these parents having the disease is usually about 25% (1 in 4). The test will give more specific information based on the presence of the Cystic Fibrosis gene.

Genetic testing is a growing part of the UK’s National Health Service, but such screens are also available privately for anyone who doesn’t want to go through a GP referral system. Remember that CF and other genetic illnesses are really only a concern if you have a family history of that particular disease.

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