Session 5 - Parent's Early Experiences

Down syndrome in maternity care: Mothers’ experiences of prenatal screening

Tamar Rutter¹, Richard Hastings², Nicola Enoch³, Samantha Flynn⁴, Matthew Randell¹, Chris Stinton¹

1. Warwick Medical School, University of Warwick, Coventry, UK
2. Intellectual Disabilities Research Institute, University of Birmingham, UK
3. Down Syndrome UK, Leamington Spa, UK
4. Centre for Research in Intellectual and Developmental Disabilities, University of Warwick, Coventry, UK

Corresponding author: Tamar Rutter – tammy.rutter@warwick.ac.uk

Prenatal screening for Down syndrome is offered to expectant parents receiving antenatal care in many countries internationally, with an emphasis on providing parents with informed choices about their pregnancy. Supporting reproductive autonomy in prenatal screening requires it to be delivered with clarity, sensitivity, and balance. However, concerns remain that the information and support provided to expectant parents is not always sufficient or impartial. The purpose of this research was to investigate the experiences that mothers of a child with Down syndrome have had of healthcare, communication and support in relation to prenatal screening in Great Britain. Mothers (N = 317) of a child with Down syndrome born between 2019 and 2022 responded to an online survey consisting of closed and open-ended questions about their experiences of being offered initial screening and non-invasive prenatal testing, and of receiving screening results. The findings from quantitative and qualitative analyses indicated that while most mothers understood that screening was optional, many accepted initial screening with little consideration, and most perceived it as routine. Many mothers reported receiving insufficient information about Down syndrome, and limited support to help them make sense of screening results. While a number of mothers described positive care which supported their decisions, several felt that communication reflected negative attitudes or assumptions about Down syndrome, which were highly memorable and had an enduring impact. The findings point to the importance of personalised discussion to support expectant parents’ understanding of screening, and to legitimise the option of declining screening tests. They highlight the importance of a neutral approach to the delivery of both higher and lower chance screening results, and of welcoming a diversity of choices.

Lived experiences of parents who have received a prenatal diagnosis of Down syndrome

Brian Skotko, MD, MPP & Marsha Michie, PhD. BSKOTKO@mgh.harvard.edu

This presentation explores the concept of prenatal preparation for parents receiving a prenatal genetic diagnosis, focusing on how genetic information benefits families who continue their pregnancy.

Background

Prenatal genetic testing is increasingly common, but its benefits for families continuing their pregnancy are unclear. A 2003 study found that parents of children with Down syndrome reported negative experiences receiving a prenatal diagnosis, including physician pity and discouragement from continuing the pregnancy. A recent study suggests that these negative perceptions persist. The concept of prenatal “preparation” remains undefined and under-investigated.

Research Questions

This presentation incorporates two recent studies whose aims include defining prenatal preparation, exploring how parents use genetic information, and understanding how healthcare providers can best support expectant couples receiving a prenatal diagnosis of Down syndrome.

Method

These studies involved mailed questionnaires and longitudinal interviews with parents who received pre- or postnatal genetic information.  Additional interviewers were conducted with healthcare providers who deliver prenatal diagnoses or provide follow-up care.

Results

In qualitative interviews, parents reported that prenatal genetic information does help them adapt to their child’s condition, process the diagnosis emotionally, and seek medical and social support.  However, compared to research 20 years ago, parents continued to report dissatisfaction with their prenatal providers.  Most parents reported dissatisfaction when providers conveyed pity or attempted to influence their decision-making about the pregnancy. Healthcare providers highlighted the value of genetic information for birth planning, early interventions, and connecting families with support services.

Conclusion

Interventions, to date, have failed to improve parents' perceptions of their prenatal medical support.  Effective prenatal preparation requires culturally competent, condition-specific clinical, informational, and social support. Access to these resources is crucial, especially as prenatal genetic testing expands and families receive more uncertain or rare results.

Journey of Compassion: Experiences Among Caregivers of Children With Down Syndrome in Iloilo

Shann Kyle G. Gacho, Kerstine Anne P. Andrade, Christine Anne C. Arcenal, Chona S. Castor, Joy C. Ladoing, Starwin B. Panes, Keith Coleen L. Taño, and Gelbert Jan S. Porque

Iloilo Doctors’ College - College of Nursing, Iloilo City, Philippines

Email: gachoshannkyle@idc.edu.ph

Background. The challenges encountered by caregivers of child with Down syndrome encompass a diverse array of physical, cognitive, social, emotional, and spiritual aspects of caregiving.

Aims. This study aimed to explore the experiences among caregivers of child with Down syndrome in Iloilo.

Method. Using a qualitative descriptive research design, the researchers collected data from caregivers through a semi-structured interview. This methodology allows for an in-depth exploration of caregiving techniques, challenges, coping strategies, and support systems utilized by caregivers in the context of Down syndrome. Ethical approval was obtained, and thematic analysis was conducted following the six steps outlined by Braun and Clarke (2006).

Results. Seven (7) participants gathered. The following themes emerged from the participants’ experiences: embracing normalcy, communication challenges, unconditional love and affection, and mother’s intervention. The mother’s intervention theme includes four subthemes: adjusting teaching strategies, fostering independence, promoting spirituality, and promoting socialization. The primary caregivers faced difficulties in communicating with their child who has Down syndrome. However, they recognized their child’s uniqueness and refused to let these difficulties affect their love for them. They embraced their child’s special needs and treated them no differently from any other child, emphasizing inclusivity. Additionally, parents adjusted their teaching methods and approaches to care for their child effectively. Primary caregivers can utilize this knowledge to address specific needs, shape inclusive policies, and improve caregiving practices to enhance the quality of life for children with Down syndrome in Iloilo.

Conclusion. The primary caregivers demonstrated a remarkable commitment to embracing normalcy by treating their child with Down syndrome equally and striving to create an inclusive, supportive environment where their child could thrive despite societal stigmas. By fostering understanding, inclusion, and making positive adjustments, caregivers found fulfillment in their role. Ultimately, their recognition of their child’s value brought enrichment and transformations to their family life.