Abstract
PGT-SR is a genetic test performed on trophectoderm (TE) biopsy from IVF embryos to detect chromosomal structural rearrangements normally caused by balanced translocations and inversions. The feasibility and accuracy of PGT-SR is affected by the breakpoint defined by conventional cytogenetic methods. OGM enables direct high-resolution breakpoint mapping on balanced carriers of translocations. In this study, we applied OGM on the couple who underwent IVF with multiple embryos showing the loss or gain on the same segments, which didn’t match with partner’s previous karyotyping results.
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