Cystic Fibrosis

Understanding this Inherited Condition through Prenatal Genetic Testing

The first thing that a baby does once it comes out of the mother’s womb is ….breathe. The sudden transition from a protected environment filled with fluids to an environment where the baby’s body is subjected to new temperature, air, sound and light can be a bit of a shock to the body. The first cry of a baby when it breathes in the first gulp of air, is an indicator that the body has accepted being outside the womb. Cystic fibrosis, an inherited disease, is a major deterrent to this life-supporting process of breathing.

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Cystic fibrosis is a serious inherited disease. It is characterized with buildup of mucus that is thick, sticky and this mucus can cause severe harm to many of the body’s organs. The most commonly affected include:

Some of the most common symptoms include damage to the respiratory system and digestive system. Some of the babies affected with cystic fibrosis have a blockage of intestine.

SO WHAT CAUSES CYSTIC FIBROSIS?

Our body is made up of cells and each of these cells contain DNA that provides the body with coded instructions to make proteins, and this determines how our body develops, functions and even looks. Sometimes, when a DNA is copied from a parent to a child mistakes can happen and this mistake in copying is called a mutation. Mutations can also happen due to
environmental factors, such as UV rays or cigarette smoke etc.

Cystic fibrosis is caused by mutations in the gene that produces the CFTR (cystic fibrosis transmembrane conductance regulator) protein. This protein regulates the flow of fluids and salt to the cells.

All of us have two copies of the CFTR gene. Cystic fibrosis occurs when an individual inherits two copies of the CFTR gene with mutations – one copy from each parent.

People with cystic fibrosis (CF) inherit two copies of the CFTR gene with mutation – one copy from each parent. Which means that each parent must either have cystic fibrosis or be a carrier of the CFTR mutation.

When both parents who are carriers have a child, there’s a 25% chance of having a child with Cystic Fibrosis.

When one parent has cystic fibrosis and the other parent is a carriers, there is a 50% chance of having a child with Cystic Fibrosis

Problems for people with Cystic Fibrosis :

Earlier on cystic fibrosis used to be considered as a fatal disease. However now with better treatments and improved ways to manage the disease, many people with cystic fibrosis live into adulthood.

From pain in the abdomen, persistent cough, repeated lung infections and the inability to gain weight, to more severe physiological problems like delayed development, puberty and slow growth, cystic fibrosis can turn a child from being happy to being in constant pain, emotionally and physically. The mucus o[en damages the pancreas, and also cause a form of diabetes. What’s worse, is that the condition can never be cured, only kept in check through supportive or focused medical care.

SO WHAT CAN BE DONE?

We cannot prevent Cystic fibrosis. When planning for a baby, couples should undergo genetic testing. Genetic testing can help determine the baby’s risk for cystic fibrosis by testing the samples each of the couple. Genetic test can also be performed when the woman is pregnant to learn about her baby’s risk for cystic fibrosis.

Prenatal genetic testing forms a part of genetic health consultation offering from truGeny. Herein, you can find out if your genes potentially carry any such kind of defect that can be passed on to your child, and if yes, truGeny’s certified genetic experts will guide you on next steps. Having a baby is a choice and a huge responsibility in itself. We at truGeny understand that the concerns of parents can start even before they actually become parents. Our telegentic services are aimed towards providing you testing and consultation options from the comfort of your home. If you are interested in knowing more about how to ensure a healthy future for your baby, please contact us at .