Elsevier

The Journal of Pediatrics

Volume 153, Issue 3, September 2008, Pages 308-313
The Journal of Pediatrics

Commentary
Newborn Screening for Cystic Fibrosis: A Lesson in Public Health Disparities

https://doi.org/10.1016/j.jpeds.2008.04.061Get rights and content

Section snippets

Methods for Newborn Screening for CF

In the United States, 3 different methods are used to screen for CF in newborns. In all programs, the first stage of screening entails measurement of immunoreactive trypsinogen (IRT) on dried blood spots.20 An elevated IRT level indicates an increased risk of CF. In some states, the second stage involves a repeat IRT. If the repeat is elevated, the child is referred for a sweat test. In other states, the second stage involves a DNA test for CF mutations on the original blood spot.21 More than

IRT/IRT

There are advantages and disadvantages for each method of screening. All methods that include 2 IRT tests require a second sample. Although this is easier in the 9 US states that routinely require a second sample,28, 29 it is more complicated in states that only require at-risk children to return for a second test. Data reveal that when the second sample is not mandatory, many families do not return30; and for those families who do return, there is moderate anxiety.30, 31, 32 In states that

Conclusion: Methodology Matters

Whether one believes that there are compelling data to justify NBS for CF, its inclusion in the uniform panel and its adoption by the Secretary's Advisory Committee have led to its adoption into the NBS panels in most states. Like most public health screening programs, the decision about which method to use for CF NBS involves trade-offs between sensitivity and specificity, between cost and uptake. Mandatory screening ensures that it is provided to virtually all infants. We now need to make

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  • Cited by (48)

    • Newborn Screening

      2023, Avery's Diseases of the Newborn
    • Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening

      2023, Journal of Cystic Fibrosis
      Citation Excerpt :

      Those categorized as Black/African American, American Indian/ Native Alaskan, Asian, and/or other race groups, and/or Hispanic ethnicity less often have F508del [19,21], have different distributions of CFTR variants [21–23] and have more rare variants [19–21]. Concern that inequitable detection of CFTR variants would create diagnostic disparity was raised during US NBS implementation [20], and decreased CFTR variant detection in Hispanic infants with CF was found in Illinois [24]. In 2019, a parent contacted the Cystic Fibrosis Foundation, asking if disparities in timeliness of diagnosis might affect Black/ African American babies.

    View all citing articles on Scopus

    This study was funded by NIH grant R01 HD043455-01. The author declares no conflict of interest.

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