A Case Study on Infertility
Three genetic test profiles of the egg or sperm donor are provided. Each profile contains test results from two donors. Pick just 1 profile, then you will evaluate the two donors for possible genetic disorders that could be inherited by the fetus. After researching genetic disorder possibilities, you will pick the better donor based on genetic profile alone. Please make sure to include the following in your answer:
- A brief description of the parents and the donors (3 points).
- Do the parents or the donor’s biographical information impact the results in any way? How so? Is this biographical information consistent with the genetic information? To address this question, you should use your information and scientific literacy skills to determine accurate detection rates for the donors.
- Give 2 reasons why someone would utilize egg/sperm donation.
- Evaluate the risk of each donor passing on a genetic disorder to the fetus. Use data/numbers in your response (cite this!). (4 points).
- Remember that only one parent is being tested in this scenario. Include what would happen if the untested parent is included and is NOT a carrier. You should include a Punnett Square for every reasonable scenario. (Include a key that tells your reader the abbreviations you used for alleles in the Punnett Square)
- What are the possible genetic disorders that could be passed to the fetus? (10 points). Compare and contrast the two disorders, making sure to include:
- A brief description of the disorder
- Symptoms of disorders
- Life expectancy/quality of life if one has the disorder.
- Using the information collected above, pick a donor. Defend your response from the data you collected. Include why the other donor is less suitable for donation (5 points).
- 3 references and in-text citations (3 points).
This assignment should be 1-2 pages paper using 3 outside references. Papers should be double spaced, 1” margins and 12-point Times New Roman font.
This case study on infertility is about a gay couple that is willing to start a family and looking for an egg donor. Dan is the sperm donor of Ashkenazi Jewish descent and has the option of fertilizing the eggs donated by a healthy female with the same genetic makeup or of Northern European descent. Also, the biographical information of the parents and donor is an important marker for the outcome of the selection process because it would provide information on their genetics and potential disorders that the fetus can inherit from the parents or donors. Infertility is one of the reasons why someone would utilize sperm or egg donation as means for conception. For example, a genetic disease might have damaged the ovaries of the female recipient or make her partner infertile. A second reason, which is the one for this case study is the sexual orientation of the couple that makes it impossible for them to conceive the same way as heterosexual couples.
Meanwhile, the biographical information of the sperm donor and two female egg donors pose a risk of passing genetic disorder to the fetus. The offspring of the egg donor with Northern European descent have a 50percent chance of inheriting the defective gene for hemochromatosis since 1 in9 of adult carries at least a copy of the defective gene. In a case where this egg donor carries two defective genes for the condition, the chance of the fetus inheriting it increases to 100 percent (Metcalfe, 2012). In contrast, the Ashkenazi sperm and egg donors have a 1 in 5 chance of passing either the first or second breast cancer gene known as BRCA2 and BRCA2 respectively to the fetus and making his or her chances of developing pancreatic cancer at 50percent.
Cystic fibrosis and Tay-Sachs disease (TSD) are the genetic disorders that could be passed to the fetus by the parent’s due to biographic information as descendants of Northern European and Ashkenazi Jewish ancestors. TSD is a neurodegenerative disorder in children that have a high frequency of occurrence in the Jewish population and continuously damages nerve cells in their brain and spinal cord. Symptoms of this disorder that might appear during infancy or adolescence include ataxia, speech problems, neuromuscular disorders, muscle weakness, paralysis or movement problems, and mental illness. Also, loss of motor skills, seizures, vision and hearing loss and paralysis are some of the early signs that are discovered in infants aged 3-6months old (Scott et al. 2010). The life expectancy of children suffering from TSD is six years after birth due to the severe loss of neurological and motor functions despite the available of several treatment options to slow the rate of destruction of the nerve cells.
In contrast, cystic fibrosis is an autosomal recessive condition that causes digestive, respiratory, reproductive, and gastrointestinal disorders in children. The damage to the various organs of the body that are used for consumption of food, inhalation, and reproduction is due to the presence of sticky mucus in them. For example, 30 percent of babies born with this genetic disorder suffer from blockage of the intestine, which results in malnutrition and reduces their chances of survival (Strom et al. 2011). However, current advances in the medical treatment of cystic fibrosis have increased the chances of infants born with the condition to live up to adulthood although the males might experience infertility due to congenital bilateral absence of the vas deferens (CBAVD).
As a conclusion, I would like to recommend the healthy female of Northern European descent as the preferred egg donor because of the zero chances of passing the gene for pancreatic cancer and TSD like the Ashkenazi Jewish donor. While the fetus might suffer from cystic fibrosis and hemochromatosis due to the potential of the mother to pass the gene to him or her, it is a better option than increasing the chances of genetic disorders of the father if they have the same ancestral line. Finally, the life expectancy of patients with cystic fibrosis is higher than those with TSD or pancreatic cancer.
Metcalfe, S. A. (2012). Carrier screening in preconception consultation in primary care. Journal of Community Genetics, 3(3), 193-203.
Scott, S. A., Edelmann, L., Liu, L., Luo, M., Desnick, R. J., & Kornreich, R. (2010). Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Human Mutation, 31(11), 1240-1250.
Strom, C. M., Crossley, B., Buller-Buerkle, A., Jarvis, M., Quan, F., Peng, M., … & Sun, W. (2011). Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genetics in Medicine, 13(2), 166-172.