Study on psychological effects and moral implications of a continued pregnancy of a child identified as carrier of Huntington's disease

Huntington's disease (HD) is an autosomal dominant hereditary neurodegenerative
disorder with onset in adulthood. HD has a profound impact on the family en
relatives who know that thwey may develop the disease in the future.
Individuals at risk who do not wish to pass the causative mutation on to their
offspring have the option of prenatal diagnosis (PD). According to
international guidelines couples opting for PD are expected to terminate teh
pregnancy after positive results (the unborn has been identified as a mutation
carrier). Since the availability of PD 12 Dutch couples have decided not to
terminate the pregnancy after positive outcome of PD with the consequence that
12 children are born with the (potential) knowledge of being a carrier with the
certainty that they will develop HD in the future. The child is deprived from
the option to decide for itself to have presymptomatic testing at adult age.
The main question of this study concerns how the decision not to terminate has
affected the parents, psychologically as wel as morally.

1. Investigating the psychological motives, moral considerations and
experiences of couples who decided to not terminate an affected pregnancy
2. Insight into the current individual psychological condition and relationship
of couples with regard to the decision taken
3. Articulation of recommendations for improvement of counselling and decision
making regarding application of PD

Retrospective cohort study using semi-structured interviews and subsequent
ethical analysis (desk research)

Research questions:
1. Do couples have any individual and moral conflicts as a result of their
decision to not terminate the pregnancy?
2. do couples have any psychological and moral conflicts in the relationship as
a result of not terminating the pregnancy?
3. What is the couples* attitude towards their child and other children with
regard to informing about carriership of HD?


METHODS

The treating clinical geneticist will inform the couple about the study by
phone and subsequently by letter and ask them if the couple is willing to
participate and be approached by the researcher. After returning the informed
consent form participants will be approached by the researcher for planning the
interview and the preferred location. The interview will be held with both
partners. Divorced partners will interviewed separately. Interviews will be
audio-recorded and transcribed. The researcher has wide experience with couples
undergoing presymptomatic and/or prenatal testing.

The interview will address memories of de testing period, the decision making
after disclosure of the test results, emotional responses and moral
considerations, current emotional reactions and moral individual and relational
conflicts, relationship with the child and coping with the knowledge about
carriership of the child.

The interview may raise strong emotions in the participants. The researcher is
an experienced psychologist and psychotherapist and is able to recognize these
emotions and deal with them. On the participants* request the interview can be
interrupted at any moment.
After the interview the participants will be debriefed.

In this study participants will be interviewed. Potential adverse consequences
are not expected but can strong emotions can raise when discussing traumatic
experiences, thoughts or feelings. The researcher has broad experience with HD,
presymptomatic and prenatal testing and can handle difficult situations. If
needed or requested a safety net or additional counselling can be provided, or
referral to family physician, psychologist, psychiatrist or neurologist.