BIO 596 Week 3 Discussion: Genetic and Congenital Disorders

BIO 596 Week 3 Discussion: Genetic and Congenital Disorders

BIO 596 Week 3 Discussion: Genetic and Congenital Disorders

Introduction

A 23-year-old woman presents to the OB-GYN office you work in. She was recently surprised to learn that she is pregnant. She estimates that she is about 8 weeks along. She tells you that she regularly drinks on the weekends with her friends. She asks you, “Is that a problem? As long as I don’t drink very much, I can still have a drink occasionally while I’m pregnant, right?”.

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Discussion Guidelines

Initial Post

In your initial post answer the following questions:

1. How would you answer her questions?
2. What types of abnormalities can be caused by alcohol, and how does genetics influence this?

Response Post(s)

Reply to at least two classmates’ initial posts by Sunday.

Submission

Post your initial and follow up responses and review full grading criteria on the Discussion 3.1: Genetic and Congenital Disorders page.

Week 3: Cell Function and Growth

Welcome to Week 3. Last week, we focused on cellular structure and dysfunction, as well as on cellular adaptation, injury, and death. This week, our focus is on cell function and growth. You should review the material in Chapter 4 of the textbook for a refresher on genetic control of cell function and inheritance. The content for this week—genetic and congenital disorders and neoplasms—is from Chapters 5 and 6, respectively.

First, pay attention to the terminology of genetic and congenital disorders (this is helped by reviewing Chapter 4). Second, you should be able to describe the three types of single gene disorders and their inheritance pattern. Disorders classified as multifactorial inheritance disorders, chromosomal disorders, mitochondrial DNA disorders, or disorders due to environmental factors are also covered. You should be able to describe what a teratogenic agent is and cite causative agents. Finally, material is provided on the effects of exposure of various chemicals, like alcohol and cocaine, or infectious agents during pregnancy.

Neoplasms are the result of altered cell differentiation and cell growth. In order to understand neoplasms, the cell cycle must be examined. You will see that neoplasms result from altered regulatory control of the cell cycle. Given that many cells arise from stem cells, you will examine the potency of stem cells. Ultimately, tumors—whether classified as benign or malignant—arise from overgrowth of cells. Thus, normal cells are transformed into cancer cells. The material presented covers the transformative steps in cancer, as well as the clinical manifestations of cancer. Finally, you will examine the diagnostic tools for cancer detection and differentiate the treatment options for cancer.

Review a list of all items due this week in your course’s syllabus.

Lesson 1: Genetic and Congenital Disorders

This lesson introduces genetic and chromosomal disorders and includes coverage of disorders caused by environmental factors, such as those caused by exposure to teratogenic agents.

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Learning Outcomes

At the end of this lesson, you will be able to:

• Genetic and Chromosomal DisordersDescribe three types of single-gene disorders and their patterns of inheritance
• Contrast disorders due to multifactorial inheritance with those caused by single-gene inheritance
• Describe three patterns of chromosomal breakage and rearrangement
• Disorders Due to Environmental InfluencesCite the most susceptible period of intrauterine life for development of defects due to environmental agents
• Describe the cautions that should be observed when considering use of drugs during pregnancy, including the possible effects of alcohol abuse, vitamin A derivatives, and folic acid deficiency on fetal development
• Diagnosis and CounselingDescribe methods used in arriving at a prenatal diagnosis, including ultrasonography, amniocentesis, chorionic villus sampling, percutaneous umbilical fetal blood sampling, and laboratory methods to determine the biochemical and genetic makeup of the fetus

Before attempting to complete your learning activities for this week, review the following learning materials:

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Learning Materials

Read the following in your Porth’s Pathophysiology: Concepts of Altered Health States textbook:

• Chapter 4, “Genetic Control of Cell Function and Inheritance”
• Chapter 5, “Genetic and Congenital Disorders”

Students requiring a refresher in genetic control of cell function and inheritance should review Chapter 4.

Review the following presentation. Note: the video has no audio.

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Genetic and Congenital Disorders Presentation

Download the PowerPoint version of Genetic and Congenital Disorders Presentation (PPT) if you require an accessible copy of the video.

BIO 596 Week 3 Discussion: Genetic and Congenital Disorders Sample

Genetic and Congenital Disorders

A 23-year-old woman presents to the OB-GYN office you work in. She was recently surprised to learn that she is pregnant. She estimates that she is about 8 weeks along. She tells you that she regularly drinks on the weekends with her friends. She asks you, Is that a problem? As long as I don’t drink very much, I can still have a drink occasionally while I’m pregnant, right?

1. How would you answer her questions?

There is no currently guaranteed safe threshold of alcohol consumption in pregnancy. Also, there is no safe moment or time that pregnant women can consume alcohol without repercussions. All through your pregnancy, including before you realize you’re pregnant, alcohol can harm your baby (Sundermann et al., 2019). Additionally, consuming alcohol during pregnancy raises your chances of miscarriage, preterm birth, and a low birth weight baby (Dejong et al., 2019). It can also influence your kid’s health once they are born.

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2. What types of abnormalities can be caused by alcohol, and how do genetics influence this?

If you consume alcohol while pregnant, you have the potential to develop fetal alcohol spectrum disorders (FASDs)  (Sundermann et al., 2019). It has the potential to create major impairments in your child. Individuals with fetal alcohol syndrome require long-term intense medical, educational, and social interventions throughout their lives. In utero, genetic alterations can have long-term consequences for a baby (Kaminen‐Ahola, 2020). A child with fetal alcohol syndrome may have abnormal facial features, a small head size, stunted growth, low birth weight, hyperactivity behavior, difficulty paying attention, learning disabilities, poor memory, language and communication delays, intellectual disability, poor problem-solving and judgment skills, and sleep disturbances (Dejong et al., 2019).  The child can also exhibit vision or hearing problems, and cardiovascular, kidney, or bone complications. The expense of drinking with your pals on the weekend isn’t worth putting your child in danger.

References

Dejong, K., Olyaei, A., & Lo, J. O. (2019). Alcohol Use in Pregnancy. Clinical Obstetrics and Gynecology, 62(1), 142–155. https://doi.org/10.1097/grf.0000000000000414

Kaminen‐Ahola, N. (2020). Fetal alcohol spectrum disorders: Genetic and epigenetic mechanisms. Prenatal Diagnosis, 40(9). https://doi.org/10.1002/pd.5731

Sundermann, A. C., Zhao, S., Young, C. L., Lam, L., Jones, S. H., Velez Edwards, D. R., & Hartmann, K. E. (2019). Alcohol Use in Pregnancy and Miscarriage: A Systematic Review and Meta‐Analysis. Alcoholism: Clinical and Experimental Research, 43(8), 1606–1616. https://doi.org/10.1111/acer.14124