The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Carole Samango-Sprouse; Colleen Keen; Teresa Sadeghin; Andrea Gropman

doi:10.1002/pd.5044

The benefits and limitations of cell-free DNA screening for 47, XXY (Klinefelter syndrome)

Prenat Diagn. 2017 May;37(5):497-501. doi: 10.1002/pd.5044. Epub 2017 Apr 17.

Authors

Carole Samango-Sprouse^{1

2}, Colleen Keen³, Teresa Sadeghin³, Andrea Gropman⁴

Affiliations

¹ Department of Pediatrics, George Washington University, Washington, DC, USA.
² Department of Molecular Genetics, Florida International University, Miami, FL, USA.
³ The Focus Foundation, Davidsonville, MD, USA.
⁴ Department of Neurodevelopmental Disorders and Neurogenetics, Children's National Medical Center, Washington, DC, USA.

PMID: 28346690
DOI: 10.1002/pd.5044

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.

Method: 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.

Conclusion: 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.

Publication types

Review

MeSH terms

Cell-Free Nucleic Acids / analysis*
Cell-Free Nucleic Acids / blood
Female
Genetic Testing / methods
Humans
Klinefelter Syndrome / diagnosis*
Klinefelter Syndrome / genetics
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis / methods*
Risk Assessment

Substances

Cell-Free Nucleic Acids