ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2020
Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Impact of Prenatal Cell-Free DNA Screening on Sex Chromosome Aneuploidy Diagnoses in Infants and Children.Prenatal diagnosis · 2026Article
- Finding acceptance: How adolescents and young adults with Klinefelter Syndrome navigate identity, disclosure, and support.Journal of genetic counseling · 2025Article
- Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.BMC pediatrics · 2024Review
- Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.Journal of community genetics · 2024Article
- Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.International journal of pediatrics · 2024Review
- Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.The American journal of bioethics : AJOB · 2023Article
- Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?Prenatal diagnosis · 2023Review
- Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.Journal of genetic counseling · 2023Article
- Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.Journal of community genetics · 2023Review
- Experiences of individuals receiving a sex chromosome multisomy diagnosis.Journal of community genetics · 2022Article
- Prenatal detection and evaluation of differences of sex development: A qualitative interview study of parental perspectives and unmet needs.Prenatal diagnosis · 2022Article
- Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.Children (Basel, Switzerland) · 2021Article
- Sex chromosome aneuploidies in 2020-The state of care and research in the world.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
The most common sex chromosome aneuploidies (SCA) (47, XXY; 47, XYY; 47, XXX) frequently result in a milder phenotype than autosomal aneuploidies. Nevertheless, these conditions are highly variable and more symptomatic phenotypes may require significant clinical involvement, including specialty care. While historically most individuals with mild phenotypes remained undiagnosed during their lifetime, the increasing use of genetic testing in clinical care has increased the prenatal and postnatal diagnosis of SCAs. These genetic tests are frequently ordered by nongenetic providers who are also responsible for delivering the diagnosis. We surveyed parents of children (n = 308) to evaluate their experience of receiving a diagnosis and their support needs. The majority (73.3%) received the diagnosis from a nongenetic medical provider. Following a prenatal diagnosis parents reported experiencing depression, anxiety, and less optimism than those receiving a postnatal diagnosis. Few parents reported receiving materials explaining their child's condition that they found to be up-to-date, accurate, and unbiased. The frequently negative reported experiences of parents at time of diagnosis suggests more educational opportunities should be provided for nongenetic providers in order to become more informed about these conditions and communicate the diagnosis in a way parents experience as supportive.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.