title: The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome).
abstract: OBJECTIVE
  The purpose of this paper is to provide an overview of the 47, XXY syndrome, which is the most commonly occurring X and Y chromosomal variation. This paper seeks to review what is currently known of noninvasive prenatal testing (NIPT) and 47, XXY and investigate potential risks and benefits of prenatal identification.
  
  
  METHODS
  A literature review of NIPT and 47, XXY was performed to identify limitations of current NIPT techniques.
  
  
  RESULTS
  As NIPT becomes an increasingly more routine procedure, prenatal findings of 47, XXY may increase. Awareness of this disorder and appropriate genetic counseling is necessary.
  
  
  CONCLUSIONS
  X and Y chromosomal variations will be identified through this screening, and the benefits and limitations to this finding need to be thoughtfully considered. © 2017 John Wiley & Sons, Ltd.
authors.affiliation: Department of Pediatrics, George Washington University, Washington, DC, USA.|Department of Molecular Genetics, Florida International University, Miami, FL, USA.
authors.forename: Carole
authors.identifier: http://orcid.org/0000-0001-9941-0568
authors.initials: C
authors.lastname: Samango-Sprouse
authors.affiliation: The Focus Foundation, Davidsonville, MD, USA.
authors.forename: Colleen
authors.initials: C
authors.lastname: Keen
authors.affiliation: The Focus Foundation, Davidsonville, MD, USA.
authors.forename: Teresa
authors.initials: T
authors.lastname: Sadeghin
authors.affiliation: Department of Neurodevelopmental Disorders and Neurogenetics, Children's National Medical Center, Washington, DC, USA.
authors.forename: Andrea
authors.identifier: http://orcid.org/0000-0002-2106-6776
authors.initials: A
authors.lastname: Gropman
mesh_terms: D000073888:Cell-Free Nucleic Acids / Q000032:analysis* / Q000097:blood; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007713:Klinefelter Syndrome / Q000175:diagnosis* / Q000235:genetics; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D018570:Risk Assessment
chemical_list: D000073888:Cell-Free Nucleic Acids