Prenatal genetic diagnosis of a sex chromosome aneuploidy: parent experiences
Abstract
Sex chromosome aneuploidies (SCAs) occur in 1 in every 400 births. SCAs are highly variable and have uncertain prognoses, complicating the delivery of prenatal cell-free DNA (cfDNA) results or diagnosis following amniocentesis or chorionic villus sampling. Using a mixed-methods approach, we explored the experiences of parents receiving a prenatal diagnosis of a fetus with SCA. Responses to open-ended questions were qualitatively analyzed. Of the 323 parents who completed the survey, 122 received a prenatal diagnosis and answered at least one open-ended question. Most parents did not recall being informed that cfDNA screening or amniocentesis could reveal the presence of a SCA prior to testing and described feeling unprepared for a positive result. Variation was found between parents who were delivered a diagnosis by a genetic professional versus other clinical specialties. Many parents expressed that the diagnosis was delivered in a way that emphasized the negative attributes of the SCA and that they were provided limited support materials. Parents who received a prenatal diagnosis of a SCA expressed a desire for more supportive delivery of prenatal diagnosis that focuses on parental education and nuanced discussion of potential phenotypes. Genetic counselors should be aware of the range of parental experiences when receiving a SCA diagnosis from non-genetic providers. Prenatal SCA diagnoses are predicted to increase as prenatal cfDNA screening becomes more widely used. Collaborations for greater provider education and comprehensive materials on SCAs are essential to facilitate the delivery of SCA diagnoses and improve parent understanding and support.
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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 [84]
Expectant parents are faced with many unknowns when they receive prenatal genetic counseling about TS.
“Expectant parents are faced with many unknowns when they receive prenatal genetic counseling about TS.84”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [84]
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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
- Authors
- Riggan, K. A., Gross, B., Close, S., Weinberg, A., & Allyse, M. A.
- Affiliations
- Mayo Clinic (US)
- Children's Hospital of Philadelphia (US)
- Emory University (US)
- Winthrop-University Hospital (US)
- Corresponding author
- Allyse, Megan A.
- Venue
- Journal of Genetic Counseling
- Publisher
- Wiley
- Published
- 2021-03-15
- Volume
- 30
- Issue
- 5
- Pages
- 1407-1417
- ISSN
- 1059-7700 (ISSN-L)
- 1573-3599
- OpenAlex
- W3139356533
- Cited by
- 33
- References
- 57
- Citations by year
- 2026: 4 · 2025: 7 · 2024: 8 · 2023: 7 · 2022: 6 · 2021: 1
- FWCI
- 5.69
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Genetic Counseling (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Advancing Translational Sciences (UL1 TR002377)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Keywords
- sex chromosome aneuploidy, prenatal diagnosis, parental experiences, non-invasive prenatal testing, amniocentesis, chorionic villus sampling, genetic counseling, provider education, phenotypes
- MeSH terms
- Aneuploidy, Female, Humans, Parents, Pregnancy, Prenatal Diagnosis, Sex Chromosome Aberrations, Sex Chromosomes
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