Delivering the diagnosis of sex chromosome aneuploidy: experiences and preferences of parents and individuals
Abstract
Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child's medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.
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Several factors influence prospective parents' decision to continue or terminate a pregnancy with a TS fetus, including fetal ultrasound abnormalities, incidental findings, presence or absence of mosaicism, gestational age at diagnosis, parental age, number of previous children, possibility of infertility, parents' fear/anxiety, parents' socioeconomic status and religious background, ethnicity,遗传学
“Several factors have been found to influence the prospective parents’ decision to continue or terminate a pregnancy with a TS fetus.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [83]
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Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Prenatal genetic diagnosis of a sex chromosome aneuploidy: parent experiences
Riggan, K. A., Gross, B., Close, S., Weinberg, A., & Allyse, M. A. (2021) · Journal of Genetic Counseling · doi:10.1002/jgc4.1407 · Cited by 33 · see citing works
Self-citationAndersen, A. R., Urhoj, S. K., Tan, J., Cavero‐Carbonell, C., Gatt, M., Gissler, M., Klungsoyr, K., Khoshnood, B., Morris, J., Neville, A. J., et al. (2023) · Birth Defects Research · doi:10.1002/bdr2.2222 · Cited by 4 · see citing works
- Authors
- Jaramillo, C., Nyquist, C., Riggan, K. A., Egginton, J., Phelan, S., & Allyse, M.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Allyse, Megan
- Venue
- Clinical Pediatrics
- Publisher
- SAGE Publications
- Published
- 2018-12-05
- Volume
- 58
- Issue
- 3
- Pages
- 336-342
- ISSN
- 0009-9228 (ISSN-L)
- 1938-2707
- OpenAlex
- W2903250190
- Cited by
- 39
- References
- 28
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 10 · 2023: 8 · 2022: 7 · 2021: 3 · 2020: 2 · 2019: 1
- FWCI
- 1.67
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Mayo Clinic Center for Individualized Medicine
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- sex chromosome aneuploidy, prenatal diagnosis, genetic diagnosis, parental experiences, patient experience, provider communication, prognosis disclosure, health information accuracy, follow-up care, support resources, care coordination, Turner syndrome
- MeSH terms
- Adolescent, Adult, Aneuploidy, Attitude to Health, Child, Child, Preschool, Female, Humans, Infant, Interviews as Topic, Male, Parents, Young Adult, Sex Chromosome Disorders of Sex Development
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