Pregnancy & Hereditary Diseases & Genetic Tests

If you, your partner, or even a family member, suffer from a hereditary illness then it is natural to be concerned about the possibility of your child inheriting a genetic illness. Fortunately there are a number of screens and tests which can help you find out whether or not a pregnancy will pass on an illness to your child. Genetic screens, sometimes referred to as chromosomal screens, are performed prior to a pregnancy, and are available for you if you need them.

Do I need to have a genetic test?

If you have a family history of a particular illness then chances are that disease has a hereditary element to it. Whether or not you are concerned enough about the possibility of passing that illness down to your child to pursue a genetic test is completely up to you and your partner. Genetic illnesses vary in terms of their severity and in their likelihood of being inherited.

These genetic illnesses can be broadly split into two groups, the autosomal dominant diseases and autosomal recessive diseases. The dominant illnesses only require one parent to carry the illness to have the disease for it to be passed down to a child, while the recessive illnesses require both parents to bear the disease for it to be passed down. What this means in practical terms is that if a disease is autosomal dominant, there is a 50% chance that it will be passed down, while if it is autosomal recessive it will have a 25% chance of being passed down.

Common autosomal dominant genetic diseases include polydactylism (the presence of extra digits) and a form of dwarfism called Achondroplasia. While autosomal recessive illnesses include cystic fibrosis and sickle cell disease.  

How do I get a genetic test done?

If you would like to have a genetic test then the first port of call would be your GP, or if you are within the private healthcare system, your private doctor. Genetic testing is available on the NHS, and is available privately. The advantage of having such a test done on the NHS is cost, while the benefit of a private screening is usually that it is much quicker.

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