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Obstetrics
Diagnosis
Syndromes and Multisystem Disorders
Cystic Fibrosis
Cystic Fibrosis
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              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

                                1. 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
                                2. 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
                                3. Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
                                4. 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
                                5. Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
                                6. 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
                                7. 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
                                8. 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
                                9. Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
                                10. Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
                                11. Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
                                12. Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
                                13. 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
                                14. 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
                                15. 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
                                16. Whitty JE: Cystic fibrosis in pregnancy. Clin Obstet Gynecol. 53(2):369-76, 2010
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            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

                                                              1. 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
                                                              2. 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
                                                              3. Zhang X et al: Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis. Ir Med J. 107(8):239-40, 2014
                                                              4. 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
                                                              5. Saha E et al: Perinatal outcomes of fetal echogenic bowel. Prenat Diagn. 32(8):758-64, 2012
                                                              6. 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
                                                              7. 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
                                                              8. 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
                                                              9. Dungan JS: Carrier screening for cystic fibrosis. Obstet Gynecol Clin North Am. 37(1):47-59, Table of Contents, 2010
                                                              10. Goetzinger KR et al: An update on cystic fibrosis screening. Clin Lab Med. 30(3):533-43, 2010
                                                              11. Lau EM et al: Pregnancy and cystic fibrosis. Paediatr Respir Rev. 11(2):90-4, 2010
                                                              12. Massie J et al: Declining prevalence of cystic fibrosis since the introduction of newborn screening. Arch Dis Child. 95(7):531-3, 2010
                                                              13. 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
                                                              14. 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
                                                              15. 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
                                                              16. Whitty JE: Cystic fibrosis in pregnancy. Clin Obstet Gynecol. 53(2):369-76, 2010