Case study: Cell Biology and Genetics
Cell Biology and Genetics
MN551-1: Integrate knowledge of advanced physiology and pathophysiology across the lifespan with the clinical implications for the advanced practice nurse.
Case Study: Cell Biology and Genetics
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Case Study 4
Felicity is a very busy 29-year-old woman in a professional career. She has diabetes mellitus, and is also pregnant for the first time. Due to her busy schedule, it took her three weeks to visit the family doctor to have the pregnancy confirmed. Felicity became very concerned when her physician asked whether she had been taking folic acid. It was all Felicity could do to remember to manage her insulin levels, and taking folic acid supplements was something she hadn’t even considered. Her doctor told her to take 600 μg of folic acid daily and advised Felicity to return later for maternal serum marker testing.
- Explain the potential teratogenic effect of folic acid deficiency on the developing fetus. What other risk factor is noteworthy in Felicity’s case?
- What is the benefit of maternal serum marker testing? What other test would be particularly useful to monitor the development of Felicity’s baby in this situation?
When is the fetus most vulnerable to the effects of teratogens and why?
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Case study: Cell Biology and Genetics
Cell Biology and Genetics
The potential teratogenic effect of folic acid deficiency on the developing fetus
Tetragons refers to substances associated with various births defects. Neural tubes defects (NTDs) occurs because of folic acid deficiency. Following the 15th postconceptual days, the neural plates fold to form the neural tube. In humans, the process of neural tube formations is completed from 21st to 26th postconceptual days (Czeizel, Dudás, Vereczkey, & Bánhidy, 2013, p. 3). This completion occurs at the cranial pole. Extra three days are needed for the process to complete at the caudal pole. Examples of neural tube defects include spina bifida associated with caudal pole neural tube defect. Anencephaly is also an example of neural tube defect related to cranial pole neural tube defect.
Human beings lack a biological mechanism like that found in bacteria that synthesize folic acid. They obtain folic acid from dietary sources such as green leafy either frozen or fresh, citrus juices and fresh fruits, legumes like beans and white bread. Folic acid is a water-soluble vitamin. It is estimated that 0.66mg of folic acid is needed daily by pregnant women to prevent the occurrence of neural tube defects (Czeizel, Dudás, Vereczkey, & Bánhidy, 2013, p. 4). The process of cell maintenance and cell division requires folate. In these processes, it plays a crucial role as a coenzyme in transfer as well as processing of one-carbon unit in addition to the production of nucleic acid required for the repair and construction of blueprint of life that is the DNA. NTDs are caused by various environmental and genetic factors. FA supplements are key in prevention of the NTDs at preconception stages. Pregnant women can obtain folic acid from the folic acid supplements, the diet or consume products fortified with folic acid. The combination of either two-method will facilitate the provision of needed folic acid in the body to NTDs. For unplanned pregnancy, folic acid supplements cannot be used because they are necessary before conception.
Other risk factors noteworthy in the case of Felicity
The fact that Felicity has diabetes mellitus is another risk factor. People with diabetes tends to have increased amount of glucose in the general circulation, a condition known us hyperglycemia. This occurs as a result of the inability of the cell of the pancreases to produce enough insulin. Insulin is a hormone that binds in insulin binding receptors present virtually in all the cells (Enid, 2010, p. 103). The binding of insulin to these receptors facilitates the opening of the ion-gated channel that allows hydrophilic substances such as glucose to enter the cells. The glucose entry into the cells results in activation of enzymes involved in glucose metabolism in three stages; glycolysis, citric acid cycle and oxidative phosphorylation giving rise to energy in the form of ATP needed for carrying out the processes of life.
Hyperglycemia in pregnant women with diabetes inhibits myoinositol uptake. Myoinositol plays a significance role in the development of an embryo during neurulation and gastrulation stages of embryogenesis (Enid, 2010, p. 103). Myoinositol deficiency causes perturbation of the phosphoinositide system that contributes to the arachidonic acid-prostaglandin pathway. Diabetic embryopathy results in various factors that can hinder proper development of the embryo. Formation of free radicals is also another occurrence that could contribute negatively to the growth of the embryo. Hemoglobin in red blood cells combines with elevated levels of glucose in general circulation to form hemoglobin A1c. A higher amount of hemoglobin A1c results in congenital anomalies common in infants born to mothers who have diabetes. The anomalies are caused by the elevated levels of HbA1c above 11.5 % (Enid, 2010, p. 104).
Benefit of maternal serum marker testing
Screening of several blood markers is necessary for pregnant women because it assists in the detection of fetal risk of congenital disabilities and genetic disorders. A maternal sample of serum is screened between the 15th and 21st week gestation period for various substances that include inhibin-A, human chronic gonadotropin (hCG), estriol and alpha-for protein (AFP) (Genetic Alliance, 2010. p. 1). Associated with abnormalities of the fetus, the first protein marker detected in the blood of the mother was AFP. In maternal serum, the levels of AFP is much lower. This is because fetus produces AFP at a high level during development. In maternal serum, the concentration of AFP at a high level is associated with open NTD. The spinal cord and the brain are formed by the folding of the neural plate during the early stages of development. Anencephaly and spina bifida are examples of birth NTDs associated with failure of the neural tube to close properly (Genetic Alliance, 2010. p. 1). Over 2500 births are affected by defects associated with open neural tubes (Genetic Alliance, 2010. p. 1). The anencephaly condition results in the improper development of the brain and the spinal cord. Spina bifida condition results in failure of the arches of the spinal cord to fuse properly resulting in backbone problems that could lead to paralysis. Low levels of AFP are linked with Down syndrome. Babies are usually born with an extra copy of chromosome 21 in Down syndrome condition. Low levels of estriol and high level of HCG is a sign of down syndrome. The three protein markers, when low, suggest a probability of the baby being born with Edward syndrome that is with an extra copy of chromosome 18. Inhibitin-A markers improve the accuracy of the likelihood of down syndrome (Genetic Alliance, 2010. p. 1).
Another test would be particularly useful to monitor the development of Felicity’s baby
Other tests that can be performed to the Felicity baby include genetic testing. It is used for screening genetic disorders such as Down syndrome and Edward syndrome among others. Few cells of the growing fetus are removed using microinjection. The cells are tested for genetic disorders(Shiefa, Amargandhi, Bhupendra, Moulali, & Kristine, 2012, p. 1). This is a more accurate method because it involves the analysis of the cell of the embryo. Unlike maternal serum testing, the method is not influenced by the gestation period, the age of the other, race, the weight of the mother, presence of diabetes that requires treatment among others. The process is best conducted during cleavage division because the removed cells are easily replaced. The method, however, cannot work for unplanned pregnancies.
The fetus most vulnerable to the effects of teratogens
Teratogen, as mentioned in the first part, refers to the agents with the capability of causing births defects. In most cases, they are usually agents from the mother that surrounds the growth and the development of the fetus. They include medication taken by the mother, alcohol, drugs among others. Births defects caused by tetragon are approximate 4-5% (Genetic Alliance, 2010, p. 1).
Fertilized eggs take approximately six to nine days for implantation to take place. A common supply of blood is created when the embryo is attached to the mother. The teratogen from the mother can close to the fetus. 10 to 14 days after fertilization are characterized by the ability of the teratogen to affect the fetus. Organs are formed different time during the development of the fetus (Genetic Alliance, 2010, p. 1). For example, as mentioned in the first part, the neural tube closure takes from the third to the fourth week during pregnancy. If the teratogen in the mother’s blood has the capability of interfering with neural plate development, they will be efficient in this period. Some teratogen, however, has the capability of affecting some organ system throughout the pregnancy period. Alcohol is an example of a teratogen liable to affect the central nervous system of the baby.
Alliance, G. (2010). Maternal Serum Marker Screening. Ncbi.nlm.nih.gov. Retrieved 4 March 2017, from https://www.ncbi.nlm.nih.gov/books/NBK132135/
Alliance, G. (2010). Teratogens/Prenatal Substance Abuse. Ncbi.nlm.nih.gov. Retrieved 4 March 2017, from https://www.ncbi.nlm.nih.gov/books/NBK132140/
Czeizel, A., Dudás, I., Vereczkey, A., & Bánhidy, F. (2013). Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects. Nutrients, 5(11), 4760-4775. doi:10.3390/nu5114760
Enid G. (2010). Review: Teratogenic Causes of Malformations. Annals of Clinical & Laboratory Science, vol. 40, no. 2, http://www.annclinlabsci.org/content/40/2/99.full.pdf+html
Shiefa, S., Amargandhi, M., Bhupendra, J., Moulali, S., & Kristine, T. (2012). First Trimester Maternal Serum Screening Using Biochemical Markers PAPP-A and Free β-hCG for Down Syndrome, Patau Syndrome, and Edward Syndrome. Indian Journal of Clinical Biochemistry, 28(1), 3-12. doi:10.1007/s12291-012-0269-9