Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals

Carolina Jaramillo, Christina Nyquist, Kirsten A. Riggan, Jason Egginton, Sean Phelan, Megan Allyse

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


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in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support.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.

Original languageEnglish (US)
Pages (from-to)336-342
Number of pages7
JournalClinical Pediatrics
Issue number3
StatePublished - Mar 1 2019


  • Jacob’s syndrome
  • Klinefelter syndrome
  • pediatric diagnosis
  • prenatal diagnosis
  • trisomy X

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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