title: Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population.
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.
authors: Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, D.C., United States of America.|The Focus Foundation, Davidsonville, Maryland, United States of America.
authors: Carole
authors: http://orcid.org/0000-0001-9941-0568
authors: C
authors: Samango-Sprouse
authors: Natera Inc., San Carlos, California, United States of America.
authors: Eser
authors: E
authors: Kırkızlar
authors: Natera Inc., San Carlos, California, United States of America.
authors: Megan P
authors: MP
authors: Hall
authors: The Focus Foundation, Davidsonville, Maryland, United States of America.
authors: Patrick
authors: http://orcid.org/0000-0003-0256-2050
authors: P
authors: Lawson
authors: Natera Inc., San Carlos, California, United States of America.
authors: Zachary
authors: Z
authors: Demko
authors: Natera Inc., San Carlos, California, United States of America.
authors: Susan M
authors: SM
authors: Zneimer
authors: Natera Inc., San Carlos, California, United States of America.
authors: Kirsten J
authors: KJ
authors: Curnow
authors: Natera Inc., San Carlos, California, United States of America.
authors: Susan
authors: S
authors: Gross
authors: Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, D.C., United States of America.|Department of Neurology and Pediatrics, Children's National Medical Center, Washington, D.C., United States of America.
authors: Andrea
authors: A
authors: Gropman
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data*; D014481:United States / Q000453:epidemiology