Back to Search
Start Over
The emotional journey of adapting to prenatally identified trisomy X.
- Source :
-
Journal of genetic counseling [J Genet Couns] 2024 Aug; Vol. 33 (4), pp. 793-804. Date of Electronic Publication: 2023 Sep 10. - Publication Year :
- 2024
-
Abstract
- 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.<br /> (© 2023 National Society of Genetic Counselors.)
- Subjects :
- Humans
Female
Sex Chromosome Disorders genetics
Sex Chromosome Disorders psychology
Adaptation, Psychological
Sex Chromosome Aberrations
Adult
Emotions
Chromosomes, Human, X genetics
Child, Preschool
Parents psychology
Pregnancy
Genetic Counseling psychology
Infant
Sex Chromosome Disorders of Sex Development genetics
Sex Chromosome Disorders of Sex Development psychology
Male
Trisomy genetics
Prenatal Diagnosis psychology
Prenatal Diagnosis methods
Subjects
Details
- Language :
- English
- ISSN :
- 1573-3599
- Volume :
- 33
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of genetic counseling
- Publication Type :
- Academic Journal
- Accession number :
- 37691399
- Full Text :
- https://doi.org/10.1002/jgc4.1778