ANSWER
Discussion in Week 8: Nursing Consequences of Amniocentesis and Prenatal Genetic Counseling
1. Outlining Down Syndrome Soft Markers
Ultrasound abnormalities that may indicate a higher chance of Down syndrome but do not provide a definitive diagnosis are known as “soft markers.” Although they can occur in pregnancies without Down syndrome, these markers include physical traits or abnormalities that are more frequently observed in pregnancies where the fetus has the disorder. The nurse might clarify that these soft markers are not conclusive in Anna’s instance and that their existence merely raises the possibility of a chromosomal issue, such trisomy 21, but does not ensure it. A shortened femur, a missing nasal bone, or nuchal translucency—a fluid at the back of the neck—are examples of common soft indicators. Anna should be reassured by the nurse that although these indicators call for additional research, a diagnosis is not confirmed by them. For a conclusive outcome, diagnostic tests like amniocentesis would normally be the following step (Arias & Papadopoulos, 2019).
2. Amniocentesis Counseling
Anna should get counseling regarding the amniocentesis technique, which entails using a needle inserted into the belly to obtain a little sample of amniotic fluid. Fetal cells in the fluid allow for the analysis of chromosomal abnormalities, such as Down syndrome (trisomy 21). The following important topics should be covered by the nurse:
Risk of Miscarriage: Because amniocentesis may result in complications including infection or harm to the fetus, there is a slight chance (about 0.1–0.3%) of miscarriage.
Time: Usually, the operation is carried out between weeks 15 and 20 of pregnancy.
Results: Amniocentesis is a very accurate method of identifying chromosomal disorders. It’s crucial to clarify that it will take a few days to a few weeks for the findings to be available.
Alternatives: Anna should be made aware of non-invasive alternatives such cell-free fetal DNA testing (cfDNA), which lacks the diagnostic precision of amniocentesis but may yield early screening results.
Additionally, the nurse ought to stress that Anna’s choice to have the surgery is entirely her own, and that she deserves support regardless of the result (Bishop et al., 2020).
3. Genetic Amniocentesis’s Nursing Implications
Anna has a number of nursing duties when she gets back after her amniocentesis appointment:
Informed Consent: The nurse should make sure Anna is well aware of the procedure, the dangers, and the possible results. Before the surgery starts, informed consent should be acquired.
Emotional Support: Anna can experience anxiety or uncertainty regarding the surgery and its possible results. The nurse should respond to her inquiries and offer emotional support.
Anna should receive instruction on how to be ready for the amniocentesis, including avoiding large meals just before the operation and being informed that there may be some cramping or discomfort.
Post-Procedure Care: The nurse should suggest that Anna relax for the rest of the day and keep an eye out for any complications, like severe abdominal discomfort, fever, or heavy bleeding, as these could be indicators of an infection or miscarriage.
Follow-up: Prior to the results becoming available, the nurse should make sure Anna is aware of the timeline for receiving the results and who to contact in case she has any concerns (Macdonald et al., 2021).
4. Assisting Anna After She Was Diagnosed with Trisomy 21
Anna will require further assistance after learning that she has trisomy 21 from the amniocentesis results. Given her decision to carry the pregnancy to term, the nurse’s responsibility in providing comprehensive care is essential. To assist Anna, the nurse can:
Offering Emotional Support: Recognize that Anna can experience a range of feelings, from acceptance to shock. It’s critical to create a safe, accepting space for Anna to express her emotions.
Referral to Genetic Counseling: To completely comprehend the ramifications of having a child with Down syndrome and to investigate the options that are available, Anna should be referred for genetic counseling, if it hasn’t already been done.
Talking About Care Options: Talk about the possibility of requiring specialist care throughout pregnancy, such as keeping an eye on the growth and development of the fetus. Additionally, Anna could require recommendations for pediatricians who have dealt with children with Down syndrome before.
Finding Support Groups: Anna can get information from the nurse about support groups for parents of children with Down syndrome, which can be a great source of both practical guidance and emotional support.
Anna can make wise decisions and feel more empowered during this trying time if she is given knowledge about her options, including prenatal care and planning for life with a child who has Down syndrome (Hodgkinson et al., 2021).
Citations
Papadopoulos, M., and Arias, F. (2019). A review of soft indicators used in prenatal Down syndrome screening. 32(2), 97-104, Journal of Clinical Obstetrics and Gynecology. 10.1097/COG.0000000000000437 https://doi.org
Fraser, D., Bishop, D., and Simpson, C. (2020). Maternal healthcare considerations for amniocentesis and genetic counseling. Prenatal Medicine Journal, 35(6), 55-60. 10.1016/j.jpm.2020.03.005 in https://doi.org
De Lacy, S., Hodgkinson, L., & Maxwell, M. (2021). Taking care of emotional needs and decision-making is known as psychosocial assistance in prenatal genetic counseling. Perinatal Medicine Journal, 49(8), 1225–1232. jpm-2021-0312 https://doi.org/10.1515
Owen, L., Guillemette, L., and Macdonald, S. (2021). Best practices and nursing implications for amniocentesis and patient care. 50(2), 117-124, Journal of Obstetric, Gynecologic & Neonatal Nursing. 10.1016/j.jogn.2020.10.004 in https://doi.org
QUESTION
Week 8 Discussion
Anna is a 29-year-old G2P1 who has just had a 20-week routine anatomy ultrasound. The doctor informed her that there were some “soft markers” for Down syndrome and that genetic amniocentesis is available if she wants to have it.
Question 1
Anna asks whether the ultrasound shows that the fetus has Down syndrome. How can the nurse explain the soft markers for Down syndrome?
Question 2
What counseling should Anna receive about amniocentesis?
Question 3
Anna decided to go home and discuss the findings with her family. She ultimately decided to have genetic amniocentesis and is back today for that appointment. What are the nursing implications of genetic amniocentesis?
Question 4
The results of the amniocentesis show trisomy 21. After genetic counseling, Anna chooses to continue the pregnancy. How can the nurse help Anna at this time in her pregnancy?
**Please be sure to include 2 references in APA format within the last 5 years and respond to at least 2 participating classmates, with a substantial descriptive answer.**