Screening For Cystic Fibrosis

Cystic Fibrosis

Receiving a diagnosis of cystic fibrosis (CF) can be difficult, especially for parents. Not many people know exactly what CF is, and even fewer know how to care for it. However, let’s take a step back—what is cystic fibrosis, and how can you learn if your child is at risk?

What is Cystic Fibrosis?

Cystic fibrosis is what is known as an autosomal recessive disorder that primarily involves the lungs. Individuals with CF experience a significant buildup of mucus within their lungs, as well as in their intestines. As a result, individuals with CF will often struggle with digestion as well as breathing. Many individuals with CF also experience chronic lung infections as well as pancreatic and endocrine issues.

CF is a progressive illness, which means that it progresses over time, limiting a person’s ability to breathe over time. Although treatments exist to improve the symptoms of CF, there is no known cure for the condition. Nonetheless, it is entirely possible for children with CF to grow up and live full, happy lives with the correct care. 

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How Do You Learn Whether Your Child Is At Risk for Cystic Fibrosis?

Fortunately, it is possible to learn if your child is at risk for CF, even before you decide to get pregnant. This knowledge allows parents to better understand the risk associated with their pregnancy and lets them prepare for what is to come. CF can be detected through carrier screening, which is performed in the preconception stage. It is also possible for expecting mothers to receive additional genetic testing, after they become pregnant

Identifying Cystic Fibrosis

To identify CF after birth, it is important to know its various symptoms. Some of the primary symptoms of CF are:

  • Chronic respiratory symptoms, which could include wheezing, coughing, shortness of breath, and coughing up mucus from the lungs
  • Repeated lung infections, such as pneumonia or bronchitis
  • Difficulties growing or gaining weight
  • Constipation
  • Salty tasting skin
  • Greasy, bulky stools

If a child is exhibiting more than one of the above symptoms, it is important to take them to a pediatrician as soon as possible. If your pediatrician suspects CF, the process of receiving a diagnosis involves several steps. To begin, your child will need to undergo a newborn screening (if the screening occurs early enough in life), a sweat test, genetic testing, and a clinical evaluation. 

When Your Child Has Cystic Fibrosis

A child’s CF diagnosis can present an overwhelming experience for many parents. After a CF diagnosis, it’s important to look after both your child and your own emotional needs, including symptoms that could develop into depression or anxiety. If you’re concerned about the level of stress you’re experiencing, consider bringing this up with your primary care provider, or even your child’s care team.  

The Importance of Carrier and Genetic Testing

Both carrier and genetic testing services allow parents to better prepare for a child with cystic fibrosis. Whether you’re planning on becoming pregnant or are currently pregnant, both can provide valuable information about your genetic information and your future child’s potential health. For more information about comprehensive carrier screening or genetic testing, speak with your physician as well as a certified genetic counselor.


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