Fetal Development and Genetics

Chapter 10, Fetal Development and Genetics

1. Lauren has been a pediatric nurse at a children’s hospital for the past 7 years. Recently she began a new job as a nurse in a genetics office. One of today’s cases involves Emily and Brad Davis. Emily is a young white female who looks to be in her mid-twenties. Her husband, Brad, is a young white male. Lauren notices the young woman is pregnant, most likely sometime in her mid-trimester. (Learning Objectives 4 and 6)

Lauren introduces herself and explains that she needs to obtain a complete medical history from the couple. When the history is complete, Lauren finds the following pertinent facts:

• Emily, age 27, and Brad, age 29, have been married for 6 years.
• They have a 4-year-old daughter who was recently diagnosed with cystic fibrosis.
• Emily is currently 28 weeks pregnant.
• The couple is very worried that their unborn child may have cystic fibrosis.
• No person in either immediate family has cystic fibrosis.
• A cousin on Emily’s mom’s side of the family has cystic fibrosis.
• Brad has no known cases of cystic fibrosis in his family; however, he recalls a great uncle on his dad’s side who was ill most of his life and died at age 9.

• What type of genetic disorder does cystic fibrosis fall under? Why doesn’t Emily, Brad, or any of their siblings have this disorder? What are the odds that the Davises’ unborn child will have this disorder?
• What would you tell the Davis couple about planning for future children?
• What do you think about the history of the great uncle who died at age 9?

2. Abbie and her husband, Greg, come to your genetics center for additional testing after having had a “positive” maternal serum alfa protein test (MSAFP) at 16 weeks gestation and a “positive” triple screen test at 18 weeks gestation. Abbie is now 20 weeks pregnant. (Learning Objectives 4, 5, and 6)

• Based on the “positive” MSAFP, what genetic abnormality could the fetus have? What more would we want to know about her “positive” test result? What does the “positive” triple screen test indicate?
• What additional genetic testing is indicated for Abbie and Greg? Which tests could be definitive? What is your role as the nurse in regards to genetic counseling?
• Abbie and Greg are given the diagnosis of trisomy 21. They want to know what caused this and what it means to their baby. What ethical and legal issues does this diagnosis raise?

 

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