1. Cystic Fibrosis and Termination of Pregnancy Jalandria Gurley, MS, FNP-BC Texas Woman’s University

2. What is Cystic Fibrosis? A genetic disorder that affects ion transport in exocrine glands. Inadequate ion transport causes dehydration and the production of thick secretions (Scott, 2013)

3. Symptoms Early stages: coughing is the predominant symptom of cystic fibrosis Nearly 50% of patients have chronic coughing by the time they reach 10 months of age (Scott, 2013)

4. Symptoms (cont) Frequent and foul-smelling stools Persistent upper respiratory infections Electrolyte imbalance (Scott, 2013)

5. Symptoms (cont) Nasal polyps and sinus disease Rectal prolapse Reproductive complications. (Scott, 2013)

6. Treatment Airway Clearance Therapy (ACT) Exercise Continuous Antibiotics Oral and inhaled respiratory medications Pancreatic enzymes and vitamins (Silva Flores, Ângela Teixeira, Paula, Ziegler, & Dalcin, 2013)

7. Prevalence About 30 000 people in the United States and 70 000 people worldwide are affected by this multisystem metabolic disease. In the United States, nearly 5% of the population carries the defective CFTR gene. (Scott, 2013)

8. Diagnosis Cystic fibrosis is diagnosed through a sweat chloride test High sweat electroloytes (chloride and sodium) concentration measurement is the gold standard test (Farahmand et al., 2012)

9. Diagnosis (cont) Accepted reference intervals for Chloride concentrations regardless of age or sex are: o >60 mmol/L diagnostic o 40-60mmol/L borderline o <40 mmol/L normal (Farahmand et al., 2012)

10. How is it Inherited? An autosomal recessive genetic disorder Mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7 (Scott, 2013)

11. Multifactorial? Yes! Cystic Fibrosis is determined by multiple genes and the environment. Smoking status Environmental pollutants Access to medications and therapies

12. Molecular Basis CFTR protein normally has 3 base pairs that code for phenylalanine which is essential for nutrition Mutations in CFTR protein o ΔF508 mutation in 70% of CF cases (Scott, 2013)

13. Molecular Based Therapies There are no therapies based on the molecular knowledge at this time. There no new drugs or therapies at this time Improvement in therapies has been made by simply starting treatment early and being aggressive (Wiehe & Arndt, 2010)

14. Genetic Tests Genetic analysis of the Cystic Fibrosis Transmembrane Conductane Regulator (CFTR) in confirming carrier testing and prenatal diagnosis (Farahmand et al., 2012)

15. Case Study Tiffany 36 year old single White female G 4 P 3 3 children: 15 year old boy, 10 year old girl, and 4 year old boy with cystic fibrosis Minimum wage full-time job On government assistance Amniocentesis due to advanced maternal age and prior child with disease

16. Case Study (cont) Amniocentesis positive for cystic fibrosis Tiffany counseled about results Tiffany will terminate pregnancy Tiffany wants you to tell her children and mother she had a natural miscarriage

17. Ethical Dilemma Is it legal for Tiffany to terminate the pregnancy? Is it the practitioner’s place to give false council? With whom is the practitioner’s nurse-patient responsibility?

18. Stakeholders Tiffany Fetus Siblings Father of fetus Extended family Society

19. Ethical Principals Autonomy Beneficence Nonmaleficence

20. Law It is the patient’s right to decide as she wants and the practitioner’s thoughts aren’t taken into account.

21. References Farahmand, F., Sarjadei, N., Haghi-Ashtiani, M., Modaresi, V., Rezaei, N., & Pakseresht, B. (2012). Comparison of Classic Sweat Test and Crystallization Test in Diagnosis of Cystic Fibrosis. Iranian Journal Of Pediatrics, 22(1), 102- 106. Scott, A. (2013). Cystic fibrosis. Radiologic Technology, 84(5), 493-513. Silva Flores, Ângela Teixeira, Paula, Ziegler, B., & Dalcin, P. (2013). Adherence to Airway Clearance Therapies by Adult Cystic Fibrosis Patients. Respiratory Care, 58(2), 279-285. doi:10.4187/respcare.01389 Wiehe, M., & Arndt, K. (2010). Cystic Fibrosis: A Systems Review. AANA Journal, 78(3), 246-251.

22. Any Questions?