The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases

2018 ◽  
Vol 110 (8) ◽  
pp. 644-647
Author(s):  
Shelby A. Neal ◽  
Marie D. Werner
SURG Journal ◽  
2019 ◽  
Vol 11 ◽  
Author(s):  
April Lynn Vanderwal

Advances made in the field of genetics have positively contributed to the ability to screen for genetic diseases. Preimplantation genetic screening  (PGS) is a type of Reproductive Genetic Screening that involves day 5 embryo biopsies and DNA testing prior to embryo implantation in the uterus. Historically, this DNA testing was performed using fluorescent in situ hybridization. However, this was deemed ineffective, so new procedures involving methods such as array comparative genomic hybridization and real time polymerase chain reaction have been implemented. As PGS technology develops, ethical issues arise, as well as a need for further research.


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