Abnormality on her universal newborn screening lab test
A 2-week-old has an abnormality on her universal newborn screening lab test that indicates she may have cystic fibrosis. She is currently doing well. Her parents report that in the hospital she did not pass her first bowel movement until the 3rdday of life and that the staff was concerned about that. Her parents have noted that she “tastes salty” when they kiss her.
Appears healthy with good growth.
Sweat chloride and genetic testing for cystic fibrosis ordered.
Assessment: Cystic fibrosis
Answer the following questions based on the scenario and article above and save your responses in a Microsoft Word document. Provide a scholarly resource in APA format to support your answers.
- Define genotype.
- Define phenotype.
- What gene mutation is associated with cystic fibrosis? How does this affect mucus production?
- How is cystic fibrosis inherited?
- Describe 3 problems that a patient with cystic fibrosis may have-choose 1 problem from 3 different body systems.
Genotype: The genotype is the genetic makeup of an individual. In the case of cystic fibrosis, the genotype is a mutation in the CFTR gene.
Phenotype: The phenotype is the physical expression of the genotype. In the case of cystic fibrosis, the phenotype can vary from mild to severe. Some people with cystic fibrosis may have few symptoms, while others may have more severe symptoms, such as difficulty breathing, frequent lung infections, and problems with digestion.