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PEDIATRICS Vol. 114 No. 2 August 2004, pp. 515-516

Implementation of Newborn Screening for Cystic Fibrosis Varies Widely Between States

Nancy S. Green, MD
Siobhan M. Dolan, MD, MPH
Motoko Oinuma
March of Dimes
White Plains, NY 10605

To the Editor.—

Newborn screening (NBS) for cystic fibrosis (CF) in the United States has been implemented by some states for up to a decade. However, complex technical and ethical issues still surround NBS for CF, including considerations regarding clinical benefits of early diagnosis, availability of follow-up, therapies to treat CF, and optimum screening protocols.1–3 Amid ongoing discussion, we conducted a survey of state programs to understand how they perform CF screening.

The National Newborn Screening & Genetics Resource Center (NNSGRC) Web site4 was used to identify those states performing CF NBS (Table 1). These 10 programs were contacted by phone or e-mail during March 2003 to learn their CF-screening protocol, and results were sent back for their review in October 2003.


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  		TABLE 1. Summary of NBS for CF by State (as of October 2003)

 
There are 2 major types of CF programs: mandatory state-based programs and hospital-based, supplemental programs. Six states (Colorado, Mississippi, New Jersey, New York, Wisconsin, and Wyoming) have integrated CF into their mandated state NBS panel. Three states (Connecticut, Montana, and Pennsylvania) offer screening as a nonmandatory, supplemental program for which availability depends on the hospital. One state (Massachusetts) offers a universal pilot program with parental consent required for participation.

Procedures vary by state, but the primary screening test in each program is an immunoreactive trypsinogen (IRT). Programs establish their own cutoff level, either a specified amount or a certain top percentile of the test batch. Secondary screening is implemented by states according to 2 basic laboratory protocols: IRT confirmation alone or reflex DNA screening for specific CF gene mutations. Of the 10 state programs, 3 (Colorado, Montana, and Wyoming) repeat the IRT but do not do DNA-based screening. Seven programs perform DNA analysis, with panels ranging from 1 ({Delta}F508) to ≥25 (those recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists for prenatal screening5) mutations. A sweat test at CF centers is the standard diagnostic test.

NBS for CF is being implemented in varying ways and with potentially different sensitivities. For example, the Wisconsin program noted improved screening sensitivity after a change of CF protocol from 1 ({Delta}F508) to 25 (G. Hoffman PhD, written communication, 2004) mutations. How to achieve quality and equity in screening programs remains unclear. Technical issues such as if and how many mutations are to be analyzed may affect how well CF screening is implemented.

REFERENCES

  1. Farrell PM, Kosorok MR, Rock MJ, et al. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Pediatrics.2001; 107 :1 –13[Abstract/Free Full Text]
  2. Farrell PM, Li Z, Kosorok MR, et al. Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis. Am J Respir Crit Care Med.2003; 168 :1100 –1108[Abstract/Free Full Text]
  3. Gregg RG, Simantel A, Farrell PM, et al. Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods. Pediatrics.1997; 99 :819 –824[Abstract/Free Full Text]
  4. National Newborn Screening & Genetics Resource Center. Available at: http://genes-r-us.uthscsa.edu/index.htm. Accessed May 18, 2004
  5. American College of Obstetricians and Gynecologists, American College of Medical Genetics. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: American College of Obstetricians and Gynecologists; 2001
PEDIATRICS (ISSN 1098-4275). ©2004 by the American Academy of Pediatrics



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N. S. Green, S. M. Dolan, and T. H. Murray
Newborn Screening: Complexities in Universal Genetic Testing
Am J Public Health, November 1, 2006; 96(11): 1955 - 1959.
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