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:
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.
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
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.
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.
