The diagnosis of cystic fibrosis
Lauren has been a pediatric nurse at a children’s hospital for the past 7 years. Recently she began a new job as a nurse in a genetics office. One of today’s cases involves Emily and Brad Davis. Emily is a young white female who looks to be in her mid-twenties. Her husband, Brad, is a young white male. Lauren notices the young woman is pregnant, most likely sometime in her mid-trimester. (Learning Objectives 4 and 6)
Lauren introduces herself and explains that she needs to obtain a complete medical history from the couple. When the history is complete, Lauren finds the following pertinent facts:
- 1. Emily, age 27, and Brad, age 29, have been married for 6 years.
- 2. They have a 4-year-old daughter who was recently diagnosed with cystic fibrosis.
- 3. Emily is currently 28 weeks pregnant.
- 4. The couple is very worried that their unborn child may have cystic fibrosis.
- 5. No person in either immediate family has cystic fibrosis.
- 6. A cousin on Emily’s mom’s side of the family has cystic fibrosis.
- 7. Brad has no known cases of cystic fibrosis in his family; however, he recalls a great uncle on his dad’s side who was ill most of his life and died at age 9.
a. What type of genetic disorder does cystic fibrosis fall under? Why doesn’t Emily, Brad, or any of their siblings have this disorder?
b. What would you tell the Davis couple about planning for future children?
c. What do you think about the history of the great uncle who died at age 9?
Maternity Case Study on Genetic Disorder
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Maternity Case Study on Genetic Disorder
The Diagnosis of Cystic Fibrosis
“With the advent of genetic engineering, the time required for the evolution of new species may literally collapse.” (Dee Hock). Maternal genetic disorders are a combination of conditions being transmitted from a mother to her child by genetic material. They affect the health and the development of the unborn child during pregnancy resulting in long-term health complications (Hussein et al., 2021). Testing for genetics is essential as it enables the identification of the risk of transmission of the disorders, enabling parents to develop informed decisions on family planning and potential treatment options. Timely diagnosis and management of maternity genetic disorders are vital as it ensures the best possible outcomes for the mothers and the children. This essay will explore a case study on Emily and Brad Davis and explain the type of genetic disorder cystic fibrosis falls under and the reason why Emily, Brad, or any of their siblings does not have the disorder, explore the Davis couple and advise them about planning for future children, and the history of the great uncle who died at age 9.
Type of Genetic Disorder that Cystic Fibrosis Falls Under and Reasons why Emily, Brad, and any of their Siblings do not have the Disorder
Cystic fibrosis is a genetic disorder classified under the class of autosomal recessive disorders, implying that for an individual to get the condition, they have to inherit two copies of the defective cystic fibrosis gene, where one is acquired from each parent (Bergeron & Cantin, 2021), and the case study of Emily and Davis, their 4-year-old daughter has cystic fibrosis, shows that their parents are carriers of the cystic fibrosis gene mutation. Neither Emily nor Davis has the disorder, but they carry a copy of the defective cystic fibrosis gene, passing it to their daughter. Potentially, Emily and Davis’s unborn baby may acquire the cystic fibrosis gene mutation from the two parents developing the disorder. The cousin to Emily on her mother’s side of the family having cystic fibrosis shows that the gene mutation is available in the family’s genetic history. The great uncle to Davis on his father’s side was sick for his life, dying at the age of 9 it could possibly he had cystic fibrosis. Davis and Emily and their siblings do not have the condition in autosomal recessive disorders such as cystic fibrosis, one must inherit two copies of the defective gene to acquire the disorder (Cornec-Le Gall et al., 2019), and they only have one copy of the gene, meaning that they are carriers but do not indicate any symptoms of the disorder, and their generation may carry the cystic fibrosis gene mutation, not having the disorder as they did not get the two copies of the defective gene.
The Davis Couple About Planning for Future Children
From the case study, it is clear that Davis and Emily are carriers of the cystic fibrosis gene mutation, where their daughter, at the age of 4, has the condition. The cousin to Emily on her mother’s side of the family has cystic fibrosis highlighting that cystic fibrosis gene mutation is available in their family’s genetic history. Great uncle to Davis on his father’s side and was sick for almost all his life, dying at the age of 9, possibly having cystic fibrosis, but it was difficult to confirm without genetic testing. From the case study, one would advocate the Davis couple to perform genetic testing to ascertain the likelihood of their unborn child inheriting the cystic fibrosis gene mutation (McGill et al., 2019). When the test outcomes indicate that the unborn child has acquired two copies of the defective cystic gene, the child may have cystic fibrosis. One may also propose that the couple consult a genetic counselor to provide them with more information about cystic fibrosis, among other congenital disorders (Bienvenu et al., 2020). The counselor may help the couple comprehend the risks associated with having another child, discussing the available options for family planning like in vitro fertilization, pre-implantation genetic testing, prenatal diagnosis through chronic villus sampling, or amniocentesis.
The History of the Great Dying at Age 9
The history of the uncle to Brad dying at the age of 9 is regarding the case study of the couple’s worries about their unborn child having cystic fibrosis. From the case study, there are no known cases of cystic fibrosis in Davis’s family, as the great uncle was sick for his life, dying at such a young age, showing that there was a case of cystic fibrosis that was undiagnosed or any other genetic disorder in the family. The history of the great uncle can also maximize the risk of the family having a child with cystic fibrosis or other genetic disorder, and testing for genetics and having genetic counseling is essential in assessing their risk and offering appropriate recommendations.
Conclusion
Emily and Davis are a young couple concerned about the probability of their unborn child inheriting cystic fibrosis, a genetic disorder affecting the lungs and digestive system, where cystic fibrosis is an autosomal latent disorder, explaining that the two parents must carry a copy of the transmuted gene for their child to acquire the disorder. It is potential that Davis and Emily are carriers of the gene without indicating symptoms. The family would be advised to look for genetic counseling to offer them with more information on their risk of getting a child having cystic fibrosis and their decisions for future family planning. The history of Davis’s great uncle dying at the age of 9 may be applicable to the couple’s current situation, highlighting the necessity of having a thorough family medical history.
References
Bergeron, C., & Cantin, A. M. (2021). New therapies to correct the cystic fibrosis basic defect. International Journal of Molecular Sciences, 22(12), 6193. https://doi.org/10.3390/ijms22126193
Bienvenu, T., Lopez, M., & Girodon, E. (2020). Molecular diagnosis and genetic counseling of cystic fibrosis and related disorders: new challenges. Genes, 11(6), 619. https://doi.org/10.3390/genes11060619
Cornec-Le Gall, E., Alam, A., & Perrone, R. D. (2019). Autosomal dominant polycystic kidney disease. The Lancet, 393(10174), 919-935. https://doi.org/10.1016/S0140-6736(18)32782-X
Hussein, N., Henneman, L., Kai, J., & Qureshi, N. (2021). Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay‐Sachs disease. Cochrane Database of Systematic Reviews, (10). https://doi.org/10.1002/14651858.CD010849.pub4
McGill, B. C., Wakefield, C. E., Vetsch, J., Barlow‐Stewart, K., Kasparian, N. A., Patenaude, A. F., … & Tucker, K. M. (2019). Children and young people’s understanding of inherited conditions and their attitudes towards genetic testing: A systematic review. Clinical genetics, 95(1), 10-22. https://doi.org/10.1111/cge.13253
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