2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-More Compassion Please: Assessing Parental Perceptions After Receiving a Diagnosis of Down Syndrome

Pdf Summary

A scoping review was conducted to examine prior research on the delivery of a diagnosis of Down Syndrome (DS) to parents and provide recommendations on how to improve the delivery of these results. Most DS diagnoses are given postnatally, and many families are not aware of what a DS diagnosis means for their child and their family. The way in which the diagnosis is delivered is crucial, as parents heavily rely on the information received from medical professionals and are influenced by the manner in which it is presented. It is important to provide accurate and thorough information in a positive and supportive manner.<br /><br />The study found that the delivery of the diagnosis can have significant and enduring positive or negative impacts on parents, which can also affect the interactions and relationships between parents and children with DS. The study recommended administering surveys to assess parent perceptions of the delivery of a DS diagnosis, developing educational programs for delivering the diagnosis in a compassionate and supportive manner, conducting longitudinal cohort studies to test the outcomes of educational interventions, and providing uniform and standardized education for parents receiving a new diagnosis.<br /><br />The results of the study showed that the overall experience of parents receiving a diagnosis of DS was moderately positive. However, there were differences in feelings and responses depending on whether the diagnosis was prenatal or postnatal, and the type of medical professional delivering the diagnosis. The study also highlighted the importance of integrating positive messaging and providing resources that focus on the potential and unique development of children with DS.<br /><br />The study had certain limitations, such as varied survey questions and scales, outdated surveys, and potential recall bias. The qualitative data collected from interviews were not included in this summary.<br /><br />Overall, there is a need to improve the delivery of a diagnosis of DS to parents by providing accurate and supportive information. This can have a significant impact on the experiences and relationships of parents and children with DS. Future research should focus on further understanding and optimizing the delivery of these results.

Asset Subtitle

Presenting Author - Olivia E. Gittens, none;

Meta Tag

Chromosomal Abnormalities

Counseling

Education

Prenatal Diagnosis

Presenting Author Olivia E. Gittens, none

Keywords

Scoping review

Delivery of diagnosis

Down Syndrome

Parents

Improving delivery

Postnatal diagnosis

Information support

Positive messaging

Educational programs

Parent perceptions