Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

PLoS One. 2016 Aug 11;11(8):e0161045. doi: 10.1371/journal.pone.0161045. eCollection 2016.

Abstract

Background: X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.

Methods: This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).

Results: From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions.

Conclusions: Single chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.

MeSH terms

  • Adult
  • Aneuploidy*
  • Child
  • Chromosomes, Human, X / genetics*
  • Chromosomes, Human, Y / genetics*
  • Female
  • Genotype
  • Humans
  • Incidence
  • Male
  • Maternal Age
  • Mosaicism
  • Pregnancy
  • Prenatal Diagnosis
  • Prospective Studies
  • Retrospective Studies
  • Sex Chromosome Aberrations / statistics & numerical data*
  • United States / epidemiology

Grants and funding

Natera, Inc. provided support in the form of salaries for authors EK, MPH, ZD, SMZ, KJC, and SG, but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the “author contributions” section.