Gross, Brianna

AbstractThe dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA‐approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype–phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.

Abstract: Objective: Pediatric diagnoses of sex chromosome multisomies (SCMs) have increased as genetic testing has expanded. However, depending on SCM presentation, there may be significant delays between symptom recognition and diagnosis. We conducted a survey of parents of children diagnosed with SCMs to understand their experiences receiving an SCM diagnosis and their support needs. Methods: We conducted an inductive qualitative analysis of open-ended survey responses for iterative themes related to presenting symptoms, diagnostic odyssey, immediate and long-term support needs, and awareness of SCMs. Results: Of the 323 parents who completed the survey, 185 parents received a pediatric diagnosis (0–21 years) in a child. Many parents expressed feelings of relief when receiving the diagnosis, especially if it occurred after a lengthy diagnostic odyssey. Parents reported frustration that their child's nonmedical symptoms, including learning disabilities, speech delays, attention deficits, and behavioral issues, were not flagged as potential indications for SCMs and suggested that greater awareness of SCMs by pediatricians, educators, and other professionals involved in their child's care may lead to earlier diagnosis and intervention. Conclusion: This is the largest qualitative study to date examining parent and caregiver experiences with a pediatric diagnosis of SCMs. Increased knowledge and awareness of nonmedical SCM symptoms are needed among medical, education, occupational, and psychology professionals for early testing referral and improved support of children with SCMs.

AbstractSex 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.