Evidence on Improved Outcomes with Early Diagnosis of Cystic Fibrosis Through Neonatal Screening: Enough is Enough!

Farrell, Philip M.; Lai, HuiChuan J.; Li, Zhanhai; Kosorok, Michael R.; Laxova, Anita; Green, Christopher G.; Collins, Jannette; Hoffman, Gary; Laessig, Ronald H.; Rock, Michael J.; Splaingard, Mark

doi:10.1016/j.jpeds.2005.08.012

Cited by 155 publications

(140 citation statements)

References 18 publications

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“…For example, the mutation 3120þ1G!A (c.2988þ1G!A) found in Native Africans with a high prevalence in South Africa is the second most prevalent allele in African-American populations of CF patients (Macek et al 1997). Precise knowledge of the worldwide distribution of the CFTR mutations has facilitated the implementation of CF newborn screening in most of the countries of Europe and in most of the states in the U.S. and Australia (Farrell et al 2005).…”

Section: Distribution Worldwidementioning

confidence: 99%

“…Improvement in outcome for CF patients diagnosed by newborn screening (as opposed to diagnosis based on symptoms) is not as clearly beneficial as for other conditions, such as phenylketonuria. However, the general consensus in Europe and in the U.S. is that there is sufficient evidence to support NBS for CF (Farrell et al 2005). NBS for CF is based on elevated levels of immunoreactive trypsinogen in the blood of the newborn.…”

Section: Newborn Screening For Cfmentioning

confidence: 99%

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Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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Section: Distribution Worldwidementioning

confidence: 99%

Section: Newborn Screening For Cfmentioning

confidence: 99%

Assessing the Disease-Liability of Mutations in CFTR

Férec

Cutting

2012

Cold Spring Harbor Perspectives in Medicine

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“…Because early treatment improves outcome [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] and the Centers for Disease Control and Prevention has stated that the addition of CF to state newborn screening (NBS) programs is justified, 16 there has been increased interest in adding CF to state NBS programs. Individuals who are diagnosed with CF through NBS have improved nutritional status, 17 better growth, 14 and fewer hospitalizations, [17][18][19] whereas a delayed diagnosis can result in significant cognitive dysfunction 20 and nutritional failure.…”

mentioning

confidence: 99%

“…Individuals who are diagnosed with CF through NBS have improved nutritional status, 17 better growth, 14 and fewer hospitalizations, [17][18][19] whereas a delayed diagnosis can result in significant cognitive dysfunction 20 and nutritional failure. 4 NBS has been shown to decrease the risk of life-threatening complications 21 or death 21,22 from CF in infancy or early childhood. Families of those with CF also benefit substantially from CF NBS, because they avoid the average 15-month delay between onset of symptoms and diagnosis 17 along with the accompanying anxiety, frustration, and emotional distress.…”

mentioning

confidence: 99%

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

et al. 2007

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Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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“…2,3 Despite improved nutritional status and median survival age, many individuals with CF still fail to reach average height for their age 4 and/ or genetic potential for height. 5 Nevertheless, findings from the Wisconsin Randomized Clinical Trial of Neonatal Screening for CF (RCT) 6,7 begun in 1985 demonstrate that children with CF diagnosed early through newborn screening (NBS) were more likely to respond to treatment initiation, recover from growth faltering, 8,9 and maintain near average height status through the first decade of life, 10 when compared with those generally diagnosed by conventional methods through signs and symptoms. However, whether such growth benefits of NBS are sustained long-term through adolescence has remained uncertain.…”

mentioning

confidence: 99%