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.
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in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support.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.
The use of cell-free DNA (cfDNA) screening has increased the prenatal detection of fetal chromosome anomalies, including sex chromosome aneuploidies (SCAs). Collectively, SCAs are the most common chromosomal condition among live births, with an estimated prevalence of 1 out of 300-400 births (Bojesen
Aim (s)
To investigate second victim experiences and supportive resources for nurses in obstetrics and gynaecology.
Background
Nurses are at risk of developing second victim experiences after exposure to work related events.
Methods
Nurses at a single institution were invited to participate in an anonymous survey that included the validated Second Victim Experience and Support Tool to assess symptoms related to second victim experiences and current and desired supportive resources.
Results
Of 310 nurses, 115 (37.1%) completed the survey; 74.8% had not heard of the term ‘second victim’. Overall, 47.8% reported feeling like a second victim during their career and 19.1% over the previous 12 months. As a result of a second victim experience, 18.4% experienced psychological distress, 14.3% turnover intentions, 13.0% decreased professional self‐efficacy, and 12.2% felt that institutional support was poor. Both clinical and non‐clinical events were reported as possible triggers for second victim experiences. Peer support was the most desired form of support as reported by 95.5%.
Conclusion(s)
Nurses in obstetrics and gynaecology face clinical and non‐clinical situations that lead to potential second victim experiences.
Implications for Nursing Management
The second victim experiences of nurses should be acknowledged, and resources should be implemented to navigate it. Educational opportunities and peer supportive interventions specific to second victim experiences should be encouraged.
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