The emotional journey of adapting to prenatally identified trisomy X.

There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses associated with advances in noninvasive prenatal screening necessitate a better understanding of how trisomy X impacts family systems. This qualitative investigation aimed t...

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Publicado en:Journal of Genetic Counseling Vol. 33; no. 4; pp. 793 - 805
Autores principales: Thompson, Talia, Tisher, Jessica, Davis, Shanlee, Miller, Christina, Kirk, Jillian, Tartaglia, Nicole, Howell, Susan
Formato: research tables/charts Journal Article
Publicado: Wiley-Blackwell Aug2024
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Aug2024
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      pub: Wiley-Blackwell
      place: Malden, Massachusetts
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        atl: The emotional journey of adapting to prenatally identified trisomy X.
      aug:
        au:
          Thompson, Talia
          Tisher, Jessica
          Davis, Shanlee
          Miller, Christina
          Kirk, Jillian
          Tartaglia, Nicole
          Howell, Susan
        affil: Department of Pediatrics, University of Colorado School of Medicine, Aurora Colorado,, USA
      sug:
        subj:
          Sex Chromosome Disorders of Sex Development Familial and Genetic
          Sex Chromosome Aberrations
          Life Experiences
          Adaptation, Psychological
          Prenatal Diagnosis
          Genetic Counseling Psychosocial Factors
          Human
          Funding Source
          Male
          Female
          Infant
          Child, Preschool
          Parents Psychosocial Factors
          Aneuploidy
          Qualitative Studies
          Semi-Structured Interview
          Teleconferencing
          Descriptive Statistics
          Descriptive Research
          Phenomenological Research
          Coping
          Expectant Parents Psychosocial Factors
          Emotions
          Infant: 1-23 months
          Child, Preschool: 2-5 years
          Male
          Female
      ab: There is a paucity of research on the experiences of parents of children with trisomy X (47,XXX). Increased prenatal diagnoses associated with advances in noninvasive prenatal screening necessitate a better understanding of how trisomy X impacts family systems. This qualitative investigation aimed to describe the lived experience of parents of young daughters with prenatally identified trisomy X to guide genetic counseling. Semi‐structured qualitative interviews were conducted via teleconferencing with parents (n = 11) of girls with trisomy X, ages 6–44 months. A descriptive phenomenological approach was used to code transcripts for significant statements and reduce data into themes describing the experience of receiving a diagnosis of trisomy X and the experience of early parenting in this population. Participants described an emotional journey of adapting to prenatally identified trisomy X. Four descriptive themes included two related, yet distinct, life stages: Negative Diagnostic Experience and a Hopeful Early Childhood, as well as two ongoing experiences: Persistent Ambiguity and Coping with and Adapting to Uncertainty. Results suggest providers should carefully consider word choice and timing in delivery of diagnosis, and genetic counseling should provide expectant parents with current research specific to trisomy X, facilitate connections with other parents of young girls with trisomy X, introduce developmental monitoring approaches, and be prepared to support families with a range of emotional responses to the diagnosis and decisions regarding disclosure.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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