Down syndrome: Parental experiences of a postnatal diagnosis

Abstract

Background Globally it is estimated that Down syndrome occurs in 1 in 800 live births ( Bull 2020 ). It has also been estimated that the incidence of Down syndrome occurs in 1/444 live births in the Republic of Ireland. Given the prevalence of Down syndrome births in Ireland and the fact that care is provided by the majority of parents at home, this qualitative study aimed to explore the experiences of Irish parents receiving a postnatal diagnosis of Down syndrome. Method A qualitative research approach was used through semi structured interviews. Eight parents of a baby diagnosed postnatally with Down syndrome participated in this study sharing their stories of their postnatal diagnosis experiences. Results Five overarching themes emerged using a descriptive thematic analysis; 1. prenatal screening, pregnancy and delivery; 2 . how the diagnosis was delivered; 3. setting and emotional experiences; 4. moving on with the postnatal diagnosis and 5. Future recommendations from parents’ perspectives. Conclusion This study highlighted the importance of the need for clinicians to ensure that partners are present at the time of the disclosure, that ample time is allocated and that verbal and written communications are provided to parents using less medical jargon when delivering the postnatal diagnosis of Down syndrome. These reasonable adjustments could alleviate parental anxiety at this critical juncture in their lives. Online resources and support forums were also identified as an integral support for families on discharge from the maternity centres and in the early months and years.

Receiving a Prenatal or Postnatal Diagnosis of (Dis)Ability

“…Parents express the need for health care providers to display compassion and empathy following the birth of an infant with a (dis)ability, and parents report that this quality is often lacking in health care providers (Grane et al, 2022; Waxler et al, 2013). Empathy can be demonstrated by entering the parents' experience with them to share their burden in solidarity; leading the way for parents to retain their independence, dignity, and hope for the future of their infant (Atienza-Carrasco et al, 2018; Crawford et al, 2013; Warnock, 2014).…”

“…Empathy can be demonstrated by entering the parents' experience with them to share their burden in solidarity; leading the way for parents to retain their independence, dignity, and hope for the future of their infant (Atienza-Carrasco et al, 2018; Crawford et al, 2013; Warnock, 2014). Nurses can practice compassionately and empathetically by being physically present with parents, which provides consolation and support (Grane et al, 2022; Warnock, 2014).…”

“…Generally, parents are dissatisfied with the experience of learning about their infant's (dis)ability, whether it is given prenatally or postnatally (Davey et al, 2023;Kammes et al, 2022;Kritikos & Holmbeck, 2020;Nes et al, 2014;Waxler et al, 2013). Dissatisfaction is related to health care providers approaching the infant's diagnosis in a negative way, providing a lack of opportunities for parents to bond with their infant, use of insensitive language, lack of clear information provided, and limited assistance with acquiring the appropriate resources to assist with caring for the infant (Douglas et al, 2017;Grane et al, 2022;Kammes et al, 2022;Mugweni et al, 2021). Waxler et al (2013) found nearly 60% of parents who had an infant diagnosed with Williams syndrome reported that they were told something inappropriate, unhelpful, or insensitive during the time of diagnosis, P regnancy and childbirth are complex phenomena that are generally filled with hope, excitement, and anticipation, as couples prepare for the arrival of their newborn and for parenthood (Riley & Rubarth, 2015).…”

“…Soon-to-be-parents often have preconceived ideas of the qualities their newborn will have, the bond they will share, and the journey they will have as a new family. The experience of carrying an infant with a known (dis)ability, or receiving this diagnosis postnatally, may shatter these preconceived ideas, as an unfamiliar wave of emotions surfaces during the perinatal process, superimposed on an already emotionally driven time (Grane et al, 2022; Waxler et al, 2013).…”