Newborn Cystic Fibrosis Screening

Newborn screening is an important step in ensuring babies and their parents are alerted to medical conditions early on. With many diseases, a quick diagnosis can prepare the family and physicians while the child is still in the hospital and under the supervision of trained professionals.

Several studies have been performed to assess whether newborn screening for CF offers a benefit to the patient in terms of lung function, nutrition, and lifespan.

An article published in 2006 analyzed several clinical trials from around the world that sought to answer this question. Here are some results that were discussed:

  •  In the United Kingdom, newborns were randomly allocated to undergo or not undergo CF screening at birth
    • Screened babies with CF: No early deaths reported among 78 children
    • Unscreened babies with CF: 4 CF-related deaths recorded before 5 years of age among 71 children
    • Of those 4 deaths, two of the children were diagnosed by 7 weeks of age, showing the importance of screening within days of birth
  • Wisconsin CF Neonatal Screening Project
    • Randomly assigned infants to either a screened or control group
    • Improved nutritional outcomes for children who were screened at birth
    • Trial was not designed to evaluate differences in survival
    • Cautioned against assuming that screening will necessarily result in reduced CF-related mortality
  • New South Wales
    • Unscreened babies with CF = 9.1% mortality risk at 10 years of age
    • Screened babies with CF = 0% mortality risk at 10 years of age
  • United States
    • The relative risk of CF-related death among children by age 10 was 3.5 times higher in states without screening programs for CF

A recent article compared the United States and Australian Cystic Fibrosis Registries to find the effect of newborn screening on the outcomes in CF patients. Results found:

  • Mean FEV1 (a marker of lung function) was greater by 5.3 percent predicted in all patients diagnosed after newborn screening
  • Children diagnosed after newborn screening demonstrated mean BMI 0.26 times greater than children diagnosed clinically
  • Conclusion: Newborn screening is associated with better lung function and BMI in both US and Australian populations

By law, all states must screen for cystic fibrosis in newborns. Newborn CF screening is important because an infant who has CF will receive the appropriate medical treatment earlier, resulting in better health and improved quality of life. The most common screening method on newborns is taking a small sample of blood from the heel of the foot. The sample is then mailed to an off-site laboratory to analyze the results. A positive test results indicates the infant might have CF, but it is not definitive. Further testing is warranted before a definite diagnosis is made.

Find out what diseases your state screens for by clicking here.

References:

“Cystic Fibrosis Newborn Screening.” Cystic Fibrosis Foundation. N.p., 1 Feb. 2011. Web. 18 Jan. 2013.

Grosse, Scott D., Margaret Rosenfeld, Owen J. Devine, Huichuan J. Lai, and Philip M. Farrell. “Potential Impact of Newborn Screening for Cystic Fibrosis on Child Survival: A Systematic Review and Analysis.” The Journal of Pediatrics 149.3 (2006): 362-66. Medline. Web. 18 Jan. 2013.

Martin, Bradley, Michael S. Schecter, Adam Jaffe, Peter Cooper, Scott C. Bell, and Sarah Ranganathan. “Comparison of the US and Australian Cystic Fibrosis Registries: The Impact of Newborn Screening.” Official Journal of the American Academy of Pediatrics 129.2 (2012): 348-55. Medline. Web. 18 Jan. 2013.

“National Newborn Screening Status Report.” National Newborn Screening & Global Resource Center. N.p., 6 Jan. 2013. Web. 18 Jan. 2013.