Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences

Kirsten A. Riggan, Brianna Gross, Sharron Close, Abigail Weinberg, Megan A. Allyse

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)1407-1417
Number of pages11
JournalJournal of Genetic Counseling
Issue number5
StatePublished - Oct 2021


  • X & Y chromosome variations
  • cfDNA prenatal screening
  • genetic counseling
  • genetic testing
  • patient experience
  • prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)


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