Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly: Study

Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly: Study

Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly, Study Finds

NOVEMBER 18, 2016

BY JOANA FERNANDES, PHD

 

IN NEWS.

Public Health Genomics Knowledge Base (v1.2)

Last Posted: Dec-16-2016 7AM

 Cystic Fibrosis expanded expanded

Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis.
Backström-Eriksson Lena et al. BMJ open respiratory research 2016 3(1) e000141

Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
Coffey Michael J et al. The Journal of pediatrics 2016 Nov

Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly, Study Finds
J Fernandez, CF Foundation, November 18, 2016

More information on this topic

Last Updated: Dec 14, 2016

• Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis.
  Backström-Eriksson Lena et al. BMJ open respiratory research 2016 3(1) e000141
• Babies with CF Not Diagnosed in Newborn Screenings Do More Poorly, Study Finds
  J Fernandez, CF Foundation, November 18, 2016
• Differences in Outcomes between Early and Late Diagnosis of Cystic Fibrosis in the Newborn Screening Era.
  Coffey Michael J et al. The Journal of pediatrics 2016 Nov
• Cystic fibrosis: to screen or not to screen? Involving a Citizens' jury in decisions on screening carrier.
  Mosconi Paola et al. Health expectations : an international journal of public participation in health care and health policy 2015 Dec 18(6) 1956-67
• Identification of Burkholderia and Uncommon Glucose Non-fermenting Gram-Negative Bacilli Isolated from Patients with Cystic Fibrosis using Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry (MALDI-TOF MS).
  Plongla Rongpong, Panagea Theofano, Pincus David H, Jones Melissa C, Gilligan Peter H.Journal of clinical microbiology 2016 Oct
• CFTR pharmacology.
  Zegarra-Moran Olga et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis: current perspectives.
  Schmidt Béla Z et al. Clinical pharmacology : advances and applications 2016 127-140
• Cystic fibrosis: a clinical view.
  Castellani Carlo et al. Cellular and molecular life sciences : CMLS 2016 Oct
• Genetic medicines for CF: Hype versus reality.
  Alton Eric W F W et al. Pediatric pulmonology 2016 Oct (S44) S5-S17
• New App for Cystic Fibrosis Patients Helps to Manage Symptoms
  Global Genes, 2016
• Parent Experience With False-Positive Newborn Screening Results for Cystic Fibrosis.
  Hayeems Robin Z et al. Pediatrics 2016 Aug
• Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
  Hill Melissa et al. Prenatal diagnosis 2015 Oct 35(10) 950-8
• Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
  Disease: NA; Type: Data; State: Multiple States
• Toward quality improvement in cystic fibrosis newborn screening: Progress and continuing challenges.
  Farrell Philip M et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 May
• The Cystic Fibrosis Foundation Patient Registry: Design and Methods of a National Observational Disease Registry.
  Knapp Emily A et al. Annals of the American Thoracic Society 2016 Apr

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Relevant Resources

• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB