Newborn screening for cystic fibrosis.

  title={Newborn screening for cystic fibrosis.},
  author={Jeffrey S Wagener and Edith T. Zemanick and Marci K. Sontag},
  journal={Current opinion in pediatrics},
  volume={24 3},
PURPOSE OF REVIEW Newborn screening for cystic fibrosis (CF) is now universal in the US and many other countries. The rapid expansion of screening has resulted in numerous publications identifying new challenges for healthcare providers. This review provides an overview of these publications and includes ideas on managing these challenges. RECENT FINDINGS Most CF newborn screening algorithms involve DNA mutation analysis. As screening has expanded, new challenges have been identified related… 
Diagnosis and Presentation of Cystic Fibrosis
  • C. Wallis
  • Medicine
    Kendig's Disorders of the Respiratory Tract in Children
  • 2019
Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening
CRMS is a common outcome of CF NBS, and some infants with CRMS may develop features concerning for CF disease, which may reflect misclassification or clinical features not collected in the CFFPR.
Cystic fibrosis newborn screening programs: implications of the CFTR variant spectrum in nonwhite patients
A perspective on the applicability of current panels to a diverse population is provided and enables CFNBS programs to consider more inclusive test approaches to facilitate diagnosis, timely clinical intervention, and enhanced prognosis for CF patients of nonwhite and mixed ethnicities.
Newborn screening and population carrier screening for cystic fibrosis: Two ends of the same rope.
  • J. Massie
  • Medicine
    Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
  • 2016
Challenges for Worldwide Harmonization of Newborn Screening Programs.
This review is intended to elucidate the current degree of harmonization of NBS programs worldwide as well as to describe the major controversial points and discuss the multiple challenges that must be confronted in expanded NBS strategies.
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California
Findings highlight the range of genotypes and phenotypes in the first few years of life following CF newborn screening when CFTR sequencing is performed and suggest a small proportion of infants with VCC and Unknown CFTR mutations do not meet diagnostic criteria for CF.
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records
Despite EHR-based phenotyping limitations in three cases, the presence or absence of pathogenic CFTR variants has strong predictive value for CF diagnosis when EHR data is used as the sole phenotypesing source.
Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing
Newborn screening programs should provide support to parents to aid communication of genetic information to relatives to allow relatives to learn of their risk and then seek testing, if they wish, at a time perceived to be most relevant to them.


Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs.
  • S. Grosse, C. Boyle, B. Wilfond
  • Medicine
    MMWR. Recommendations and reports : Morbidity and mortality weekly report. Recommendations and reports
  • 2004
Emerging issues in cystic fibrosis newborn screening
There is not one universal CF NBS protocol that will suit the heterogeneous needs of diverse regions, and many options for adjusting algorithms to local conditions are now available.
Cystic fibrosis newborn screening: using experience to optimize the screening algorithm
The New England Newborn Screening Program (NENSP) retrospectively analyzed Massachusetts’s CF newborn screening data that yielded decisions to eliminate a screen-positive category, maintain the IRT cutoff value that prompts the second tier DNA testing, and communicate CF relative risk to primary care providers (PCPs) based on categorization of positive CF NBS results.
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Of the 99,408 newborns screened in Alberta during the first two years of the program, 221 had a positive CF newborn screen and the program subsequently identified and initiated treatment in 31 newborns with CF.
Newborn screening for cystic fibrosis: a paradigm for public health genetics policy development. Proceedings of a 1997 workshop.
Cystic fibrosis (CF) is a genetic disease that can be detected in newborn infants (i.e., those aged < or = 1 month) by immunotrypsinogen testing. The sensitivity and specificity of such testing can
Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results.
Comparing age of cystic fibrosis diagnosis and treatment initiation after newborn screening with two common strategies.
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening.
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome
It is indicated that CRMS patients can develop signs of CF disease, but have a milder clinical course than CF infants, and close initial monitoring of these patients is warranted.