NUR 631 Topic 1 DQ 1

Sample Answer for NUR 631 Topic 1 DQ 1 Included After Question

Use information provided and the “Discussion Forum Sample” to answer the following questions.

Scenario

Mrs. D.S. is a 42-year-old Caucasian female who was admitted to the delivery unit with labor pains. She was accompanied by her 44-year-old husband. Mrs. S. had been in relatively good health before her pregnancy. However, while pregnant she was diagnosed with gestational diabetes. Furthermore, her dose of thyroid hormone had to be adjusted several times during the last two trimesters. At time of admission, Mrs. S.’s blood pressure was 129/68 and her pulse was 70. Fetal heart rate was 140 beats/minute. Four hours after admission, Mrs. S. delivered a 37-week, 8-pound, 1-ounce baby girl.

The delivery room physician and nurse immediately noticed that the baby had a rather small head with a flat occiput, a broad and flat nasal bridge, folds of skin in the corners of the eyes, an upward slant to the eyes, a protruding tongue, and short fingers. There also was an excess amount of skin on the back of her neck.

Questions

Answer the following questions:

  1. These physical characteristics are highly suggestive of some type of chromosome abnormality. What is the most likely cause of this infant’s physical characteristics? Explain your answer.
  2. The parents struggle to understand what happened to their baby. “We don’t smoke, drink, or take drugs, so why did this happen?” the mother asks. How do you explain this infant’s condition to the parents?

A Sample Answer For the Assignment: NUR 631 Topic 1 DQ 1

Title: NUR 631 Topic 1 DQ 1

  1. After reviewing the discussion scenario, the mother’s risk factors plus the baby’s physical features describe textbook symptoms of Down Syndrome. According to Brewer et al., (2016), the etiology of Down Syndrome is somewhat unknown, but it is a chromosomal abnormality that produces three copies of chromosome 21. Based on the mothers age of 42, the risk of having a baby with Down Syndrome greatly goes up after 35 years of age. The scenario goes on to describe the baby’s physical features, including: a flattened nasal bridge, epicanthal folds, a flattened oociput, upward slanting eyes, protruding tongue and short stubby fingers. After reviewing Bull et al., (2018), these assessment findings are all listed under Down Syndrome or Trisomy 21 results.
  2. What an unfortunate discovery for these parents to make on delivery day. I’m curious if any diagnostic studies were carried out before birth to evaluate the baby’s health since the mother was over the age of 35. After reviewing the questions and concerns made by the parents, a compassionate approach would be appropriate in a private setting. Again, mentioning to the mother the risk Down Syndrome conceiving after the age of 35 was likely a significant factor. According to Hollier, (2018), a 40 year-old woman who conceives a child has a 1 in 70 chance of having a baby with Down Syndrome. I would also question the parents if Down Syndrome runs in either family history or if the parents have already had a child diagnosed with Down Syndrome. Also relevant to the couple, Down Syndrome cases occur slightly higher in caucasian women compared to other ethnic groups (Hollier, 2018). As far as the parents mentioning drug and alcohol free lifestyle, I’d explain the genetic etiology of Down Syndrome and explain the duplicate copies of chromosome 21 that occurred in their baby. After educating the parents on the etiology of Down Syndrome, I’d instruct them on the non-pharmacologic management of their child with necessary medical exams and routine screenings.

References

Brewer, J., Demers, L., & Musci, T. (2017). Survey of obstetrician opinions regarding NIPT use in general practice. Obstetrics & Gynecology, 30(15), 1793-1796. doi: 10.1097/01.aog.0000483367.18745.de

Bull, M. J., and the AAP Committee on Genetics. (2011; reaffirmed 2018). Clinical Report—Health Supervision for Children with Down Syndrome. Pediatrics. 128 (2). DOI: https://doi.org/10.1542/peds.2018-0518

Hollier, A. (Ed.). (2018). Genetic disorders. In Clinical Guidelines in Primary care. (3rd ed.). Advanced Practice Education Associates.

A Sample Answer 2 For the Assignment: NUR 631 Topic 1 DQ 1

Title: NUR 631 Topic 1 DQ 1

Down Syndrome is caused by a phenomenon called autosomal aneuploidy. McCance et al defines aneuploidy as, “a somatic cell that does not contain a multiple of twenty-three chromosomes” (2019). During mitosis, the offspring’s chromosome 21 is tripled. The thrice chromosome abnormality is indicative of Down syndrome. When a cell contains three copies of one chromosome it is described as a trisomy (McCance et al, 2019). Therefore, autosomal aneuploidy is the umbrella term with trisomy being the specific type of abnormality. Down syndrome is most commonly linked with acute leukemia in children.

Another type of chromosome alteration would be chromosomal structure abnormalities. Cri du chat syndrome occurs when there is a deletion in the chromosomal structure. Structure deviations are either deletions, duplications, inversions, or translocations, confirms McCance (2019). Deletions form from chromosomal breakage or a loss in DNA (McCance, 2019). Cri du chat occurs when the 5p is deleted in the fetus. 

Turner syndrome is classified as a sex chromosome aneuploidy. Each parent provides either an X or a Y chromosome, mother and father respectively, for the offspring. If the offspring were to have 45 chromosomes instead of 46, Turner Syndrome would occur. McCance explains with Turner Syndrome, the female’s only have one X chromosome instead of XX or XY (2019).

Another sex chromosome aneuploidy is Klinefelter Syndrome. McCance defines this anomaly when an individual has at least one Y chromosome and two X chromosomes (2019). Certain individuals might have additional X chromosomes but the syndrome is classified with at least one Y and two X chromosomes.

McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). Elsevier. ISBN-13: 9780323402811

A Sample Answer 3 For the Assignment: NUR 631 Topic 1 DQ 1

Title: NUR 631 Topic 1 DQ 1

Most animals with nuclei (eukaryotes) are diploid, which means they have two sets of chromosomes, one from each parent. Polyploidy, on the other hand, is seen in several organisms, most notably plants. Polyploidy can also be seen in ordinarily diploid animal tissues, such as human muscle tissue. This is referred to as endopolyploidy. Prokaryotes, which lack nuclei in their cells, can be polyploid, as evidenced in the giant bacteria Epulopiscium fishelsoni (McCance et al., 2019). As a result, ploidy is defined in terms of a cell. Polyploidy is defined as a numerical alteration in a whole set of chromosomes. Aneuploid organisms are those in which a specific chromosome or chromosome fragment is under or over-represented. A numerical change in one section of the chromosomal set is referred to as aneuploidy, whereas a numerical change in the entire chromosome set is referred to as polyploidy.

Polyploidy can arise as a result of aberrant cell division during mitosis or, more typically, during meiosis’s metaphase I (McCance et al., 2019). Furthermore, it can be triggered in plants and cell cultures by some chemicals, the most well-known of which is colchicine, which can result in chromosome duplication, but its use may have other, less visible implications. Oryzalin will also duplicate the content of the existing chromosomes. Polyploidy can be found in highly differentiated human tissues such as the liver, heart muscle, and bone marrow. Because polyploids cannot interbreed with their diploid forebears, polyploidization is a sympatric speciation pathway. True polyploidy is uncommon in humans, however, polyploid cells can be seen in highly differentiated organs such as the liver parenchyma, heart muscle, and bone marrow. Aneuploidy is more prevalent (McCance et al., 2019).

Nondisjunction, which can occur during meiosis or in the early stages of postzygotic development, is the most prevalent cause of sex chromosomal aneuploidies. Loss or gain of genetic material might influence all daughter cells or only some of them, resulting in tissue mosaicism. All but one X chromosome is inactivated at random in both conventional and atypical sex chromosome karyotypes (Skuse et al., 2018). The methods by which sex chromosomal aneuploidies cause phenotypes are twofold: dosage imbalance caused by a small number of genes that escape inactivation and their endocrinologic repercussions.

McCance, K. L., Huether, S. E., Brashers, V. L., Rote, N. S., & McCance, K. L. (2019). Pathophysiology: The biologic basis for disease in adults and children. Elsevier.

Skuse, D., Printzlau, F., & Wolstencroft, J. (2018). Sex chromosome aneuploidies. Neurogenetics, Part I, 355–376. https://doi.org/10.1016/b978-0-444-63233-3.00024-5