Question

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:

a. Emily, age 27, and Brad, age 29, have been married for 6 years.

b. They have a 4-year-old daughter who was recently diagnosed with cystic fibrosis.

c. Emily is currently 28 weeks pregnant.

d. The couple is very worried that their unborn child may have cystic fibrosis.

e. No person in either immediate family has cystic fibrosis.

f. A cousin on Emily’s mom’s side of the family has cystic fibrosis.

g. 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.

Discussion

A. What type of genetic disorder does cystic fibrosis fall under?

1. Why doesn’t Emily, Brad, or any of their siblings have this disorder?

2. What are the odds that the Davises' unborn child will have this disorder?

B. What would you tell the Davis couple about planning for future children?

C. What do you think about the history of the great uncle who died at age 9?

Answer 1

A> Cystic film ystic fibrosis is an autosomal recessive genetic disordes. D 1.2 Autoson Autosomal recessive disorders have two pattern while inheritina cassies (ii) diseased The im hesitance pattern can be depicted in diagsama Carrier Parent Cassies Passent PPPPPPPPPPPP (50.p.reased Key :- unaffected Affected -Diseased child cassier children Child Causing gene (25.1) Phenotypically not (25%) Not disease affected ie not causing gene. DO diseased (50-10) As per question, the 4 year old daughter a Hence, it shows that both Emily and Brad are may be this condition carriers for cystic fibrosis and so they are not direased As the risk of transmission to child diseased when both parent are carrier is only /th. Hence, it may be possible that none of the siblings of Emily and Brad are affecting from diseased condition 2. The probability of the Davises canborn child will have this disorder is / ie only 25.1 chance for diseased condition."

8. Davis couple should be told that they should choose the option of karyotyping tookone of all the future Childeren during the fetal stage so that if the diseased condition of fetus will be known at right time, then Medical termination of Pregnancy can be done. Also, they can go for Artificial reproductive Therefy like artificial insemination or ovum donor. c. The history of great uncle, died at age of I és Suggesting that he might have suffered from the diseased condition in cystic fibrosis As there would not be not so much medical intervention, much Also the life expect- life expect - at early age. Also the he might died is not much high. -ancy of Cystic fibrosis