Pregnancy & The Fanconi Anaemia Test


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Fanconi Anaemia is one of a number of different illnesses that has the potential to be passed down from parent to child. These hereditary illnesses can be inherited because they are the result of defects in specific genes, which are biological sets of instructions that tell our body how to go about its business. Genes are passed down from parent to child, and as such, genetic testing for conditions like Fanconi Anaemia can be a good way to ensure the health and safety of a child if you have a family history of Fanconi’s Anaemia.

What is Fanconi’s Anaemia?

Fanconi’s Anaemia is a condition which affects about 1 person in every 350,000. The condition results in the development of a particular class of blood cancers, also known as leukaemia’s. Leukaemia’s are serious conditions, even with recent advances in cancer medicine, and as such Fanconi’s Anaemia can be a dangerous condition which can take its toll on the sufferer and his or her family.

Another blood based condition which occurs as a result of Fanconi’s Anaemia is bone marrow failure. Bone marrow is the substance within our bones which is responsible for the generation of the many different blood cells we need to stay healthy. Bone marrow failure is essentially the loss of bone marrow’s ability to successfully produce healthy blood cells.

How and where to test for Fanconi’s Anaemia?

Fanconi’s Anaemia is a condition that can be easily tested for through genetic screens like the Alef8. The Alef8 is a simple blood test which looks for the presence of defective genes in parents’ blood cells. The test is often opted for by parents who are planning a pregnancy, but are concerned about a family history of heritable disease like Fanconi’s Anaemia.

This condition is what is called a recessive genetic disorder, meaning that of the two copies of every gene that we inherit (one from each of our parents), both need to be defective for the disease to affect a child. Parents who carry one copy of the disease-causing gene are called carriers, and will exhibit no outward symptoms of the illness.

Both parents will have to be tested to determine the chances of a child acquiring the illness. Testing is available both privately and from the NHS in the UK, and should you wish to pursue NHS testing then you will need a referral from your GP who will most likely provide you one based on a family history of the illness. Deciding whether or not you want to the test is a major step, and one which you and your partner can make with support from dedicated genetic counsellors. =


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