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KEY FACTS
Terminology
Imaging
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TERMINOLOGY
Abbreviations
Cystic fibrosis (CF)
Definitions
Autosomal recessive multisystem disorder caused by dysfunctional chloride ion transport across epithelial surfaces
IMAGING
General Features
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Hill M et al: Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. ePub, 2015
Langfelder-Schwind E et al: Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 23(1):5-15, 2014
Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
Buiter HD et al: Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy. Arch Dis Child Fetal Neonatal Ed. 98(3):F256-9, 2013
Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 117(4):1028-31, 2011
Chandrasekharan S et al: Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med. 12(4 Suppl):S194-211, 2010
de Becdelièvre A et al: Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet. 18(10):1166-9, 2010
Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
Modra LJ et al: Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust. 193(3):157-60, 2010
Rosenfeld M et al: Baseline characteristics and factors associated with nutritional and pulmonary status at enrollment in the cystic fibrosis EPIC observational cohort. Pediatr Pulmonol. 45(9):934-44, 2010
Scotet V et al: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol. 203(6):592, 2010
Autosomal recessive multisystem disorder caused by dysfunctional chloride ion transport across epithelial surfaces
IMAGING
General Features
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Hill M et al: Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. ePub, 2015
Langfelder-Schwind E et al: Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 23(1):5-15, 2014
Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
Buiter HD et al: Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy. Arch Dis Child Fetal Neonatal Ed. 98(3):F256-9, 2013
Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
American College of Obstetricians and Gynecologists Committee on Genetics: ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 117(4):1028-31, 2011
Chandrasekharan S et al: Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med. 12(4 Suppl):S194-211, 2010
de Becdelièvre A et al: Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. Eur J Hum Genet. 18(10):1166-9, 2010
Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
Modra LJ et al: Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust. 193(3):157-60, 2010
Rosenfeld M et al: Baseline characteristics and factors associated with nutritional and pulmonary status at enrollment in the cystic fibrosis EPIC observational cohort. Pediatr Pulmonol. 45(9):934-44, 2010
Scotet V et al: Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France. Am J Obstet Gynecol. 203(6):592, 2010