Genetic Testing

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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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