Newborn Screening

Overview

The Cystic Fibrosis Foundation recommends that all states routinely screen for cystic fibrosis (CF) in all newborns. The Centers for Disease Control and Prevention (CDC) published a similar recommendation in October 2004. The following questions and answers provide more details about newborn screening for CF and explains why it is important for all states to include it in their programs.

More than 10 million Americans are symptomless carriers of the defective gene that causes CF and most are not aware of a family history of the disease. Research studies conducted over the past two decades have shown that early intervention with nutritional therapies provides distinct benefits including improved height, weight and cognitive function for people with CF. These therapies also may impact respiratory function and life expectancy, and reduce hospitalizations.

Specialized care and new CF therapies have improved the length and quality of life for people with this disease today and provide great promise for the lives of people with CF to come. With these possibilities for early treatment and healthier lives, it is imperative that states add CF to their newborn screening programs to give these children the best chance for a healthy future.

• What is cystic fibrosis?
• What states do newborn screening for CF?
• Why should states screen all newborns for CF?
• If CF is genetic, is it usually present in the family history of those who have it?
• What does the newborn screening test for CF reveal? Does a positive result mean that a baby has CF?
• Why is newborn screening for CF recommended?
• What can be done to encourage states to provide CF newborn screening?
• Why should newborns be screened for CF if the parents were carrier screened?
• What does the future hold for people with CF?

What is cystic fibrosis?

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive system and other organs of the body. This mucus leads to chronic lung infections and difficulty digesting food and nutrients. The treatment of CF depends upon the severity of symptoms and the organs involved.

Most people with CF must take pancreatic enzyme supplements with every meal to absorb enough calories and nutrients to grow and stay healthy. They also must eat a high-calorie, high-fat diet. People with CF also perform daily airway clearance therapy to help clear mucus from the lungs. Other types of treatments include antibiotics to fight lung infections and drugs to thin the mucus and improve lung function.

In recent years, many advances in the care and treatment of CF have improved the length and quality of life for people with the disease. The median age of survival for a person with CF is now nearly 37 years. For babies born with CF today, the chances of improved health quality and longevity are even greater.