Assignment Prompt
Prompt 1: Choose a genetic disease or a birth defect that affects the development of the embryo or fetus. Include the following information: 1. Name of disease or birth defect 2. What is it and how does it affect development? 3. How is it tested for? 4. What is the prognosis for the embryo or fetus? 5. Is there treatment or a cure? Prompt 2: Choose one of the following scenarios and then answer the prompts. Make sure you are considering all of the information given and what that means in the woman's life for her health and the health of her fetus. Support your answers with information and concepts from the textbook and/or power points. You may use 1 outside source. Scenario 1: Kandi is 16 years old. She is about 40 lbs over weight and is 5'5" tall. She is 12 weeks pregnant. Kandi knows very little about prenatal development but would like to learn. She lives with her parents who expect her to continue high school and to work until the doctor recommends that she not do so. Kandi's family lives in a two bedroom rented home. Both of her parents work but the family is considered working poor. She doesn't eat healthy foods and drinks about 5 sodas a day. She leads a sedentary life for the most part. The father of the child is not involved and has said that he will not pay child support. Explain to Kandi what developmental period her pregnancy is in and provide her with a few (at least 2) ways that her fetus is developing at this point. What guidance would you give her based on what you know about her and what you have learned from the text and the power point lectures? Scenario 2: Terri is 21 weeks pregnant. Her pregnancy has been difficult. She suffered from an extreme case of morning sickness and lost at least 8 lbs over the first three months of her pregnancy. Recently, she was diagnosed with gestational diabetes. Terri is very active and works in a high pressure career that causes her stress. She also continues to struggle with nausea so she doesn't eat as much as she should. She eats mostly soups and diet shakes. The doctor has told her that her fetus is slightly smaller than expected for its gestational age and that her blood pressure is high. Explain to Terri what developmental period her pregnancy is in and provide her with information about the ways that her fetus is developing at this point. What guidance would you give her based on what you know about her and what you have learned from the text and the power point lectures?
Prompt 1: Meckel-Gruber Syndrome
The disease of my choice is Meckel-Gruber Syndrome. The selected disease is lethal and rare. The illness is an autosomal recessive condition indicating that the child can only be infected when both parents carry a defective gene. The illness affects the development of the embryo leading to abnormalities like oral clefting, genital anomalies, central nervous system malformations, and liver fibroids. According to Erol & Kırbaş (2021), Meckel-Gruber Syndrome is detected through prenatal ultrasound. The improvement in ultrasonography has made it easier for prenatal diagnosis to be performed at 10 weeks gestation. Genetic testing can also be done to identify mutations associated with Meckel-Gruber illness in cases where the family has a history of the subject illness.
Since Meckel-Gruber Syndrome is lethal, most infants are stillborn or die hours or days after birth due to severe organ malformation involving the kidney and brain. Some neonates have the probability of surviving a few months with poor quality of life. According to Jondhale et al. (2020), pulmonary hypoplasia is the leading parameter causing death among patients with Meckel-Gruber Syndrome. The diagnosis of Meckel-Gruber Syndrome is devastating among parents and caregivers and brings emotional and psychological effects to families. There is no cure for Meckel-Gruber Syndrome. Because of the severity of the developmental anomalies, medical support is provided to the patient for comfort purposes. Genetic counseling is highly encouraged for families who are affected by Meckel-Gruber Syndrome.
Prompt 2 - Scenario 1: Kandi
Currently, Kandi is in her first trimester where the embryonic period is coming to an end, and the fetal period is at the beginning. As of week 12, fetal organs and tissues are rapidly forming, increasing the risk for congenital abnormalities when things are not done well by the expectant mother (Applegate et al., 2021). Typically, organs like the heart, brain, and kidneys begin functioning at this stage. Besides, the facial features and limbs are in the developing stage as the fetus's face takes on a more recognized human form. Despite Kandi not feeling it, the arms, fingers, legs, and toes are fully formed at week 12.
First, Kandi does not have a good diet, something that can affect her health and the health of her unborn child. Kandi should invest in a diet that is rich in fruits, vegetables, and whole grains that are vital for the provision of vitamins like iron and folic acid which are vital in preventing neural tube defects while developing fetal brain and bones. Instead of five sodas a day, Kandi should consider milk which will give her and her baby enough calcium. It will be vital for Kandi to engage in regular prenatal check-ups which will inform her about her health and the health of her fetus.
References
- Applegate, K. E., Findlay, Ú., Fraser, L., Kinsella, Y., Ainsbury, L., & Bouffler, S. (2021). Radiation exposures in pregnancy, health effects and risks to the embryo/foetus-information to inform the medical management of the pregnant patient. Journal of Radiological Protection, 41(4), S522. https://iopscience.iop.org/article/10.1088/1361-6498/ac1c95/meta
- Erol, S. A., & Kırbaş, A. (2021). Prenatal sonographic diagnosis of Meckel-Gruber Syndrome: A case report. Batı Karadeniz Tıp Dergisi, 5(1), 110-113. https://dergipark.org.tr/en/download/article-file/1266983
- Jondhale, P., Marda, M., Bangal, V. B., & Bagdi, N. (2020). Meckel-Gruber syndrome: A rare and lethal fetal anomaly. International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 9(7), 3064. https://www.academia.edu/download/79599048/5705.pdf
Related sample: Lifespan Development Stages Overview