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PGT-A: Houston, we have a problem.
J Assist Reprod Genet
October 2023
TRIO Fertility, The University of Toronto and the Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Preimplantation genetic testing for aneuploidy (PGT-A) is a common add-on to IVF cycles. As it is presently performed, PGT-A relies on whole genome amplification of small amounts of DNA from cells removed from the trophectoderm (TE) of a blastocyst for determination of gain or loss of chromosomal material by next-generation sequencing. Whole genome amplification may introduce artifacts such as allele dropout and loss of heterozygosity in up to 25% of cases.
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