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 to carrier detection and inconclusive diagnoses. Early descriptions of infants with CF-related metabolic syndrome (CRMS) indicate that the natural history of this condition cannot be predicted. Early identification has also provided an opportunity to better understand the pathophysiology of CF. However, few studies have been conducted in infants with CF to determine optimal therapy and recommendations are largely anecdotal. SUMMARY: Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF. Whereas a single, optimal approach to screening does not exist, all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
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 to carrier detection and inconclusive diagnoses. Early descriptions of infants with CF-related metabolic syndrome (CRMS) indicate that the natural history of this condition cannot be predicted. Early identification has also provided an opportunity to better understand the pathophysiology of CF. However, few studies have been conducted in infants with CF to determine optimal therapy and recommendations are largely anecdotal. SUMMARY: Newborn screening provides an opportunity to identify and begin treatment early in individuals with CF. Whereas a single, optimal approach to screening does not exist, all programs can benefit from new findings regarding sweat testing, carrier detection, early pathophysiology, and clinical outcomes.
Authors: Sonya L Heltshe; Jonathan Cogen; Kathleen J Ramos; Christopher H Goss Journal: Am J Respir Crit Care Med Date: 2017-04-15 Impact factor: 21.405
Authors: Daniel Gelfond; Sonya L Heltshe; Michelle Skalland; James E Heubi; Margaret Kloster; Daniel H Leung; Bonnie W Ramsey; Drucy Borowitz Journal: J Pediatr Gastroenterol Nutr Date: 2018-04 Impact factor: 2.839
Authors: Felix Ratjen; Scott C Bell; Steven M Rowe; Christopher H Goss; Alexandra L Quittner; Andrew Bush Journal: Nat Rev Dis Primers Date: 2015-05-14 Impact factor: 52.329
Authors: Martina I Lefterova; Peidong Shen; Justin I Odegaard; Eula Fung; Tsoyu Chiang; Gang Peng; Ronald W Davis; Wenyi Wang; Martin Kharrazi; Iris Schrijver; Curt Scharfe Journal: J Mol Diagn Date: 2016-02-01 Impact factor: 5.568
Authors: Ronny Tah Yen Ng; Fernando Augusto de Lima Marson; Jose Dirceu Ribeiro; Antonio Fernando Ribeiro; Carmen Silvia Bertuzzo; Maria Angela Gonçalves de Oliveira Ribeiro; Silvana Dalge Severino; Eulalia Sakano Journal: Dis Markers Date: 2015-01-15 Impact factor: 3.434