Blood Testing for Inherited Genetic Disorders

A blood test is taken and then in the laboratory, scientists examine the DNA closely. DNA is formed into structures called chromosomes, and these can be stained and prepared in such a way that changes between what is considered to be a ‘normal’ chromosome and the sample can be identified. Mutations in your DNA, which are changes that may potentially cause disease, can be identified. By having such knowledge, you will be able to receive genetic counselling and make informed decisions about any future children you may wish to have.

In addition to inherited genetic disorders, it has been shown that many common health complaints such as heart disease and cancer has genetic components as well as lifestyle aspects. By learning about your family history and the genes you have inherited, you can take steps to reduce the risk if it is shown that you are at an increased risk of a certain illness.

It is also now possible to test expecting mothers for conditions present in their unborn babies. A simple blood test is all it takes to identify if a child is likely to have a genetic disorder such as trisomy 21, also known as Down’s syndrome, Trisomy 18 or Edwards Syndrome and Trisomy 13, more commonly referred to as Patau Syndrome. Down’s syndrome is a genetic disease caused by having three copies of chromosome 21. It is characterised by distinctive facial features, learning difficulties and quite often other medical problems such as congenital heart disease and digestive issues. Edward’s syndrome is cause by having three copies of chromosome 18 and the main symptoms include abnormal development characteristics like a smaller head, crossed legs, unusual shaped chest and a smaller jaw, in addition to mental retardation. Patau syndrome often leads to the abnormal development of many physical features, such as the lips that are often cleft, eyes closer together, extra fingers, lower ears, skin defects and smaller head, eyes and jaw. Furthermore, there may be neurological problems such as seizures and severe intellectual disability. This disorder is again another example of having an extra chromosome, with sufferers having 3 copies of chromosome 13.

Although these diseases are rare in their occurrence, certain groups may be at greater risk of having a child affected by one of these conditions. Such groups include:

• Women aged 35 or over
• Mothers who have one or more children that have been previously diagnosed with any of the genetic conditions

You may want to have a test if you are less than 35 years old if you want to be sure that your baby will be born healthy. However, the test cannot be used for multiple pregnancies, so if you are expecting twins or triplets you may need to seek other methods if you are in one of the groups with greater risk.

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