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- The patient is a 31-year-old white, G5, P0040 (5th pregnancy, 4 abortions—not
elective) woman who is pregnant for the fifth time. She has had four miscarriages
and she has no living children. She has a history of seizures and multiple preg-
nancy loss. You are seeing her in this pregnancy to discuss the possible terato-
genic effects of her seizure medications. (Her seizures have occurred only in the
past 1 1/2 years due to a serious car accident.) The patient is distraught that she
may lose another baby and is also dealing with an unhappy marriage and home
life. To make matters worse, she has terrible short-term memory due to the acci-
dent, and you have to repeat most of the information. - The patient is a 24-year-old white woman with a history of type 1 diabetes. She
is planning a pregnancy next year. - The couple have had 7 years of infertility and have learned they are pregnant
with twins. The mother is 39 years old. - The patient is a 6-year-old boy who is developmentally delayed. The family has
been to numerous doctors, and someone suggested that he be tested for Williams
syndrome. - The patient is a 37-year-old, G1, P1001 (second pregnancy, one full-term deliv-
ery, one living child), woman pregnant for the second time. She is approxi-
mately 12 weeks pregnant. She has had one normal delivery resulting in one
normal living child. NIPT testing reveals that the fetus is probably affected with
trisomy 18. - The patient is a 14-month-old boy with severe encephalopathy. The family his-
tory is significant for a similarly affected male sibling who died at 18 months of
age. All studies (done elsewhere) have been negative; no diagnosis has been pro-
vided to the family. - The patient is a 13-year-old girl who is suspected of having Turner syndrome.
The pediatrician who referred her spoke only to her parents about his suspicions.
Although the parents have researched Turner syndrome on the Internet, they have
told their daughter nothing about their concerns or about the condition itself. The
patient seems nervous and somewhat frightened. - A woman comes to clinic for genetic counseling following a recent diagno-
sis of DMD in her 6-year-old son. Her sister accompanies her to this
appointment.
Exercise 6: Obstacles to Patient Goals^1
For each of the patient scenarios in Exercise 5, identify possible roadblocks (lack of
knowledge, lack of skill, fear of risk-taking, and lack of social support) and generate
interventions to address one roadblock from each category (i.e., knowledge, skill,
risk-taking, and social support).
(^1) Adapted from Danish and D’Augelli (1983).
6 Structuring Genetic Counseling Sessions: Initiating, Contracting, Ending, and Referral