Pregnancy & The Niemann-Pick Test

Genes are often referred to as the blueprints of life, an apt title as they provide instructions that dictate how our bodies work. We inherit our genes from our parents, which is why when there is a genetic defect which can give rise to a particular disease, there is a chance that said illness is passed down from parent to child. Niemann-Pick is one such disease, and like many other genetic illnesses can now be tested for prior to pregnancy thanks to advances in modern technology.

What is Niemann-Pick disease?

Niemann-Pick is a particularly devastating genetic illness because it is a fatal disease. It is a consequence of a genetic fault which is autosomal recessive, meaning that you need to have inherited the disease-bearing gene from both your parents to suffer from the illness itself. There are actually a number of sub-types of Niemann-Pick disease, but what they all share in common is that they are severe. During Niemann-Pick disease dangerous levels of fats, which are normally used by the body for various important functions, build up in essential organs.

Symptoms of the illness are severe and vary depending on the organs affected. Fats (also called lipids) accumulate in organs like the brain, lungs, spleen, bone marrow, and liver. Cells affected by this accumulation of fats became enlarged, which causes a reduction in appetite and pain if it affects the liver and spleen.

If the brain is affected the symptoms include an uneven walk which is referred to clinically as ataxia, as well as difficulty swallowing and slurred speech (also called dysarthria).

Testing for Niemann-Pick disease

Because carriers of the Niemann-Pick genes can be unaffected by the disease, testing both parents is essential to determine what a child’s chances are of developing the illness. Niemann-Pick can be effectively tested for using modern genetic screen which are in fact available both on the NHS and privately. The disease can be tested for using a blood sample, and so doesn’t involve any invasive procedures.

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