An Exploration And Analysis Of The Reproductive-Decision Making Process In Parents Of Children Affected With Wolf-Hirschhorn Syndrome And Related 4p Deletion Conditions
Capstone Project Committee: Sat Gupta, PhD (Statistical Consultant), Amanda Lortz, Mallory Sdano, MS, LCGC, Randi Stewart, MS, CGC
Background: Wolf-Hirschhorn syndrome/4p deletion syndrome (WHS/4p-) is characterized by developmental and growth delays, intellectual disabilities, distinctive facial characteristics, and seizure disorders. While previous studies have focused on the genetic cause and variation in symptoms, there is a lack of information regarding psychosocial topics. The goal of this exploratory study was to describe the reproductive decision-making process in parents of children affected with WHS/4p-. Methods: Members of the 4p- Support Group were recruited for personal interviews and an anonymous online survey. Participants had a biological child affected with WHS/4p- and were at least 18 years old. Eight parents or parent couples participated in personal interviews and 95 participants completed the survey. Descriptive techniques and thematic analysis were used for data analyses. Interview data informed survey development. Results: 61.7% of survey participants felt that they had not received balanced information during the initial diagnosis and 47.3% did not feel emotionally supported by the medical community. Six of 9 survey participants that were carriers of a balanced translocation agreed that carrier status influenced their reproductive decisions. The most frequently utilized reproductive option among survey respondents was prenatal diagnosis via amniocentesis or chorionic villus sampling (21%). Emotional burden of care was reported to be more significant than financial burden of care in the reproductive decision-making process. Parental perception of severity of child’s phenotype and religious beliefs did not appear to influence decision making. The majority agreed that having a sibling, either typically developing or with WHS/4p-, would benefit other sibling(s). Discussion: Reproductive decision-making is a complex process in the WHS/4p- community. Many families reported a desire for more emotional support from their healthcare providers as well as balanced information at the time of diagnosis. Future studies can expand upon reproductive decision-making of couples carrying a balanced translocation in the WHS/4p- community.
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