What information would you give the patient and her husband about genetic testing for them to make an informed decision?

Genetic Testing

Situation

A 30-yr-old woman informs you that she is 3 months pregnant. She

has 2 children with her current husband. This pregnancy was

unplanned, and her youngest child has cystic fibrosis (CF). She

expresses concern about the chance of having another child with CF.

She mentions that she would like to have genetic testing on her fetus.

Her husband asks you what the chance is of having another child

with CF.

Ethical/Legal Points for Consideration

• With genetic testing, the patient and her family can find out

whether their child will have CF. The woman and her husband

can then make an informed decision.

• Genetic counseling is recommended before and after genetic

testing because of the complexity of the information and the

emotional issues involved with implications and options.

• Knowing that CF is an autosomal recessive condition, you can

use Punnett squares (Fig. 12.9) or a family pedigree (Figs. 12.4

and 12.5) to show the woman and her husband the probability of

having another child with CF.

• Be mindful of the privacy and confidentiality of genetic

information and the potential conflict between 1 person’s right to

privacy and another person’s right to information.

Discussion Questions

1. What information would you give the patient and her husband

about genetic testing for them to make an informed decision?

2. What options are available for this couple?

3. How would you help this couple as they are considering ending

the pregnancy if the results of the genetic testing reveal that the

fetus will have CF?

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