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Atypical and Extra Sex Chromosomes: A case series of the increasingly abnormal sex chromosome aneuploidies referred to medical genetics.

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Cell Free DNA studies are a seen as a natural replacement to our prior use of quad screening. Especially for T13, T18, and T21 this testing is superior for sensitivity and specificity in the detection aneuploidies. However, the inclusion of sex chromosomes with cfDNA studies have resulted in an influx of cases with sex chromosome aneuploidies for patients who previously wouldn’t have had genetic testing or for cases with very atypical karyotypes.

 

Methods:
While some common conditions are frequent our clinic has seen even more and other cases with; for example, a baby with 45 X assigned male at birth by anatomy or dizygotic twins with discordant male and female anatomy and a single shared chimeric 46 XX / 46 XY mosaic karyotype.

Results:
The aim of this study is to develop an additional understanding that Sex Chromosome Aneuploidies (SCAs) are increasingly diverse well beyond 45 X, 47 XXY, 47 XYY and 47 XXX.

Conclusion:
In this cases series we review the psychosocial issues of counseling, discussions on parental ideas of gender, along with proposed anticipatory guidance for the other providers who care for these patients.

Agenda

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