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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Preimplantation genetic testing using Karyomapping for a paternally inherited reciprocal translocation: a case study
C E Beyer1, A Lewis2, E Willats2
1Monash IVF, Suite 1, 252 Clayton Rd, Clayton, Victoria, 3168, Australia. clairebeyer@hotmail.com.
Journal of Assisted Reproduction and Genetics
|February 14, 2019
Summary
Karyomapping effectively validated for preimplantation genetic testing of reciprocal translocations. This method reliably distinguishes normal from unbalanced embryos, enabling successful pregnancy.
Area of Science:
- Reproductive genetics
- Genomic analysis
- Embryo screening
Background:
- Preimplantation genetic testing (PGT) screens embryos for genetic disorders.
- Karyomapping, a genome-wide SNP analysis, is primarily for single gene disorders.
- Its utility for chromosomal abnormalities, like reciprocal translocations, requires validation.
Observation:
- This study validated Karyomapping for PGT of a paternal 46,XY,t(10;19)(p15;p13.3) reciprocal translocation.
- DNA from the couple, paternal parents, and a previous pregnancy were used for feasibility testing.
- Illumina's HumanKaryomap-12 BeadChip and BlueFuse Multi software facilitated SNP analysis.
Findings:
- Karyomapping reliably distinguished normal/balanced from unbalanced chromosomal outcomes.
- PGT for the specific reciprocal translocation was deemed feasible.
- A normal/balanced embryo was transferred, resulting in a clinical pregnancy.
Implications:
- Karyomapping offers a viable PGT-SR approach for reciprocal translocations.
- This technique may detect chromosome rearrangements when other PGT platforms are insufficient.
- It expands PGT options for couples with complex chromosomal rearrangements.
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