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

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.