De Jesus, Lovelle Grace E.

BSN 2 – Y2 – 2

Course Task 1: Genetics

Download a research article on the topic ‘Genetic Assessment and Counselling’ from ScienceDirect.
Make a Reflection Paper guided by the following questions:

Research Article: https://www.sciencedirect.com/science/article/pii/S0277953622001630

1. What is the importance of doing Genetic Assessment to high-risk pregnant clients?

Building a family is one of the most fulfilling in life for couples. It may be a rollercoaster ride for
some and fun for others. One of the most challenging parts for couples when conceiving a baby is the
health of the fetus. That’s why it is encouraged and important for the mother to have pre- and post-
natal check-ups to reassure that the baby is healthy. Nowadays, genetic assessment is also one of
the tests the couple does. Also, it is advised by their ob-gyne or doctors to provide accurate
information on the fetus’s health. Because it can help families and healthcare providers make
decisions about pregnancy or the fetus. Genetic tests or assessments, check for congenital
conditions like Down syndrome, trisomy 13, and other diseases they may inherit from their parents.
Therefore, genetic assessment plays a vital role in knowing the genetic abnormalities in fetuses. As
early, health care providers may provide appropriate care for the mother and child.

2. What are the categories to require Genetic testing on women?

According to the book, the following are the most suitable to benefit from genetic testing or
counseling:

• A woman or couple who has a child with a congenital disorder or an inborn error metabolism.
• A couple whose close relatives have a child with a genetic disorder such as chromosomal
disorder or an inborn error of metabolism.
• Any individual who is a known carrier of a chromosomal disorder.
• Any individual who has an inborn error of metabolism or chromosomal disorder.
• A consanguineous (closely related) couple.
• Any female older than 35 years and any male older than 55 years.
• A woman of ethnic backgrounds in which specific illnesses are known to occur.
3. How are you going to counsel a woman who have found to have genetic abnormalities?

As a student nurse and future RN, first and foremost, my responsibility is to respect the patient’s
right to privacy if the result shows a genetic abnormality within the couple. The information I’ve gained
from testing should remain confidential and not discriminate against the woman or the couple.
Second, I will make them understand and provide accurate information about the result by showing
statistics on their situation. Through that, they will know the percentage or chance of having a baby
with a genetic disorder. So, they will not lose hope. Lastly, I will value their views, opinions, and
decisions and set aside mine. I will help them to understand that no one is judging their decision
because they are the ones who must live with that decision in the years to come. With that, they can
make decision by themselves and not depend on the others.