Pregnancy & The Bloom Syndrome Test


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The defective gene causing Bloom Syndrome is thought to be present in about 1% of the population, although because of the properties of this gene (discussed later in this article) the number of people actually suffering from the disease is much lower. However another consequence of this is that it is possible that you may carry the gene for the illness if you have a family history of Bloom Syndrome, which means that you may be able to pass it on to your child. Unsurprisingly the possibility of passing a genetic disease on to a newborn is a concern for many parents, which is where genetic testing can offer a chance to ensure the safety and wellbeing of a baby to be.

What is Bloom Syndrome?

Bloom Syndrome is an autosomal recessive disease, which is the scientific way of describing an illness that requires both parents to carry a defective gene for a child to be affected. Everyone has two copies of every gene, one from their mum and the other from their dad. Having one copy isn’t enough to cause a recessive disease, and as such screening is important as you and your partner might be blissfully unaware of the presence of the harmful gene.

Bloom Syndrome typically presents with limited growth, and hence a shorter stature than one would expect at a particular age. The disease also typically presents with a sensitivity to sunlight that results in a scaly rash. Other symptoms of the disease include an unusually high voice and distinct, long and narrow, facial features. Sufferers are also particularly susceptible to illness as they lack elements of the immune system responsible for keeping us healthy.

People suffering from Bloom Syndrome are very susceptible to cancers of many different types, and other complications of the disease including learning difficulties, respiratory problems, and diabetes. On average sufferers of Bloom Syndrome first present with cancer around the age of 25, which is unusually young and can take its toll on both the sufferer and their families.

How can I test for Bloom Syndrome?

As a genetic disease Bloom Syndrome can be detected using modern genetic screens. These testing technologies probe parental DNA for the presence of the harmful disease-causing gene, and this information is then passed on to parents to be who have requested the screen.

The test is part of the Alef8 battery of tests; the Alef8 test only needs one blood sample upon which it can test for the presence of 8 different genetic diseases, including Bloom Syndrome.

Where can I test for Bloom Syndrome?

You have the choice of testing for Bloom Syndrome either privately or through the NHS. Each route has its own benefits, the main appeal for private being the speed with which you can get tested and the main draw for the NHS being the cost effectiveness.

Deciding to take a test like this one is a major step, and it is important that both you and your partner are prepared for what can be a life changing result. There is plenty of support available to you through genetic counsellors, both on the NHS and privately. Remember also that with a disease like Bloom Syndrome the presence of one recessive gene in both parents still only results in a 1 in 4 (25%) chance of a child being affected by the disease. 


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