Family-provider interactions surrounding the diagnosis of Down syndrome

During the past 40 years, much has been written about parental satisfaction with family-provider interactions surrounding the diagnosis of Down syndrome (DS). 1–14 In addition, there have been numerous articles about how to break bad or difficult news to patients and families, with the unexpected diagnosis of DS frequently being used as an exemplar.15–25 Also, a number of educational programs have been developed to help healthcare providers feel better prepared to deliver the diagnosis of DS.26 –28 Additionally, parents of children with DS throughout the world have devoted a great deal of time, effort, and money to the development of educational resources (e.g., books, pamphlets, and videos) that can be used by healthcare providers to inform expectant or new parents about life with DS in the 21st century (http://www.ds-health.com/ds_sites.htm for links to resources). Furthermore, the Prenatally and Postnatally Diagnosed Conditions Awareness Act (S 1810) was signed into law on October 8, 2008, and became Public Law No: 110-374.29 One of the main goals of this legislation was to improve the quality of information and support services that pregnant women and new parents receive about DS and other prenatally and postnatally diagnosed conditions. Unfortunately, despite all of this attention being paid to family-provider interactions surrounding the diagnosis of DS, reports of parental dissatisfaction with the informing process continue to appear in the popular literature, as do reports of healthcare providers giving parents inaccurate, out-dated information about life with DS. Moreover, anecdotal reports of parents feeling pushed or coerced to make unwanted choices, such as undergoing invasive testing or terminating a pregnancy after the diagnosis of DS, are becoming more common.30–33 During a session on prenatal screening at the 10th World Down syndrome Congress in Ireland in 2009, many parents expressed concern that although advances in genomics may contribute to improved health and increased life span for individuals with DS, advances in genomics may also result in decreased support for individuals with DS and their families. A number of parents noted that once prenatal testing became a routine part of prenatal care in their country, there seemed to be a growing sentiment among healthcare providers that families who chose to continue a pregnancy after a prenatal diagnosis of DS are making the wrong choice. More importantly, because it is “their choice” to have a child with DS, questions are being raised about their government’s obligation to provide resources and support. At the heart of most arguments concerning termination as the “right choice” after a prenatal diagnosis of DS is the underlying assumption that individuals with DS have a negative impact on their family, their community, and society as a whole. Unfortunately, this is a widely held assumption, despite growing evidence that many families adapt successfully to the challenges associated with raising a child with DS and some even thrive.34–44 The continued existence of this assumption became very apparent during recent media coverage of a large-scale study by Chiu et al.45 demonstrating the clinical efficacy and practical feasibility of using multiplexed maternal plasma DNA sequencing analysis to screen for DS among high-risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. In most of the media coverage, the new test was presented as a way to prevent the unwanted birth of a child with DS without endangering the life of a “normal child. ”46 Very little, if any, attention was paid to educating people about what life is like for individuals with DS and their families. The main purpose of this commentary is to advocate for the inclusion of accurate, up-to-date information about the family experience of living with DS in early discussions with expectant or new families after the diagnosis of DS. Preliminary findings from an ongoing study concerning adaptation and resilience in families of children with DS being conducted by the authors of this commentary suggest that although parental satisfaction with the informing process continues to be less than ideal, many parents of children with DS are satisfied with how they were informed, especially those who were given information about what life is like for children with DS and their families.47 Of the 224 mothers who completed the online survey, 52% were satisfied with how they were informed of their child’s diagnosis and 48% were dissatisfied. Twenty-three percent of the mothers who were satisfied were very satisfied, 22% were moderately satisfied, and 7% were slightly satisfied. Of those who were dissatisfied with how they were informed, 25% were very dissatisfied, 12% were moderately dissatisfied, and 11% were slightly dissatisfied. The 60 fathers who completed the survey responded in a similar manner, 50% were satisfied with how they were informed (25% very satisfied, 18% moderately satisfied, and 7% slightly satisfied) and 50% were dissatisfied (23 very dissatisfied, 17% moderately dissatisfied, and 10% slightly dissatisfied). Given the amount of attention that has been devoted to improving parental satisfaction with the informing process, one would hope to see improvement in parental satisfaction over time. However, for the current sample of parents, this was not the case. The relationship between age of child with DS and level of satisfaction was not significant. Parents of younger children with DS did not report higher levels of satisfaction than parents of older children with DS. Instead, levels of satisfaction remained fairly constant over the past 20 years, with approximately one half of the parents being satisfied and the other half being dissatisfied. Also, in terms of when parents first became aware of their child’s diagnosis (prenatally or postnatally), the relationship between timing of the diagnosis and satisfaction with how they were informed was not significant. From the School of Nursing, Family Health Division, Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.