Newborn Screening

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.

By screening for CF in newborns, treatments can start before symptoms occur, which can enhance nutrition and minimize or delay complications, thereby giving newborns the best chance for a healthier future.

What states do newborn screening for CF?

See what states are conducting newborn screening for CF.

Why should states screen all newborns for CF?

Newborn screening for CF is justified based on more than 20 years of strong, scientific evidence and observational studies in the United States and abroad. This research has shown the importance of early diagnosis. Under current standards, most people with CF are not diagnosed until they show symptoms of the disease.

Early diagnosis allows for immediate intervention with specialized therapies, including pancreatic enzymes to aid digestion and a high-calorie, high-fat diet. These interventions have been shown to result in improved height, weight and cognitive function, and also may help maintain respiratory function, while increasing life expectancy and reducing hospitalizations.

If CF is genetic, is it usually present in the family history of those who have it?

Not usually. CF is caused by a recessive gene, which means that a child must inherit two copies of the defective CF gene -- one from each parent -- to have the disease. Even then, there is only a one in four chance that the child of two carriers will have CF. More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene and most are not aware of a person with CF in their family history.

What does the newborn screening test for CF reveal? Does a positive result mean that a baby has CF?

No, not necessarily. A newborn screening test is not a diagnostic test. In fact, only a fraction of babies with an initial positive CF newborn screening test ultimately are diagnosed with the disease. If an initial screen is positive, further tests are done to rule out or confirm a CF diagnosis.

Why is newborn screening for CF recommended?

For a disease to be included in newborn screening test panels, it should meet certain requirements and conditions. Some of the considerations are: benefits of early diagnosis; existence of accurate tests to confirm the diagnosis; and improved health because of early detection and timely treatments. CF meets all of these criteria.

The benefits of newborn screening for CF have been documented and studied extensively. New treatments and specialized care for CF have improved and extended the lives of people with the disease. In addition, research has shown that early diagnosis and proper care of babies with CF can have significant impact on their nutritional status throughout childhood and perhaps even into their late teens. This allows children with CF to grow and possibly develop to their genetic potential.

What can be done to encourage states to provide CF newborn screening?

The recommendations from the CF Foundation and the CDC urge all states to do newborn screening for CF and to establish a comprehensive program to ensure appropriate diagnostic and follow-up care for all those screened.

There are several ways to encourage state governments to implement CF newborn screening programs. First, contact the state health department to find out if CF is being considered for newborn screening. Then, call or write the state governor to encourage support for the addition of CF screening.

Contact information for all state governors can be found on the Web site of the National Governors Association at www.nga.org. Third, call or write the state legislators requesting their support. The Web site of the National Conference of State Legislators at www.ncsl.org contains links to the Web sites of all state legislators.

Why should newborns be screened for CF if the parents were carrier screened?

Screening for CF in all newborns is still important even if the carrier screening tests for parents were negative. CF carrier screening only identifies the most common of the more than 1,000 mutations of the defective CF gene. Although it is unlikely for a child to have CF in this situation, it is still a possibility. Therefore, it is still important that all newborns be given the newborn screening test for CF.

What does the future hold for people with CF?

Babies born with CF today will benefit from already approved therapies that have extended survival for people with CF to nearly 37 years. They also will benefit from other therapies to come, which -- we are confident -- will help them live quality lives into their 40s, 50s and beyond.

The CF Foundation has more than 25 potential therapies in various stages of pre-clinical development and clinical trials. Any of these potential treatments, if successful, could make a profound difference in the lives of people with CF.

The CF Foundation will continue to work on these potential therapies while also adding new therapies to the development pipeline. We are dedicated to adding tomorrows every day for all people with CF.