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Breaking difficult news in a newborn setting: Down syndrome as a paradigm

Authors

  • Karin M. Dent,

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    • Karin M. Dent, MS, LGC, is a certified genetic counselor specializing in pediatrics. She currently provides genetic counseling in the Medical Genetics and Neurofibromatosis clinics and in the Congenital Hearing Loss research clinic at the University of Utah Medical Center. Her research interests include genetic counseling for dystrophinopathies and the etiology of congenital hearing loss. She is a faculty member and co-course director in the new University of Utah Graduate Program in Genetic Counseling.

  • John C. Carey

    Corresponding author
    • University of Utah Department of Pediatrics, Division of Medical Genetics, Salt Lake City, UT 84132.
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    • John C. Carey, MD, MPH is a Professor and Vice-chair in the Department of Pediatrics at the University of Utah Medical Center. He has a career long interest in the theme of delivering difficult news to families. Currently he is principal investigator on the Utah Hearing Loss Etiology project and is Editor in Chief of the American Journal of Medical Genetics.


  • How to cite this article: Dent KM, Carey JC. 2006. Breaking difficult news in a newborn setting: Down syndrome as a paradigm. Am J Med Genet Part C Semin Med Genet 142C:173–179.

Abstract

Breaking the difficult news of an unexpected diagnosis to parents in the newborn setting is a common occurrence in genetic counseling. Many clinical geneticists and genetic counselors have had the challenge of delivering a postnatal diagnosis of Down syndrome to parents of newborns. Down syndrome is a common chromosome condition occurring in approximately 1 in 800 live births. Presenting the diagnosis to families must be accomplished in a supportive, positive, caring, and honest manner. However, there are few scientific data and little instruction in training programs on how best to convey this news in an appropriate manner. Several articles in the literature over the last three decades have proposed various guidelines for the so-called informing interview. Discussions of parents' preferences and experiences in receiving this news have also been documented. Few reports, however, have focused on breaking difficult news of the diagnosis of a genetic condition to parents in a newborn setting in the genetics literature. In this paper, we will review the medical literature on delivering difficult news, specifically focused on that regarding the diagnosis of Down syndrome in the newborn setting. We propose a theoretical framework from which the informing interview can be planned and future outcome data can be measured. In this way, researchers of this theme can investigate the process, including the healthcare professionals' delivery of difficult news and make recommendations for continued improvement of the process. Our model can be generalized to breaking difficult news for a variety of other congenital conditions. © 2006 Wiley-Liss, Inc.

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