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2 Preimplantation Genetic Testing
Anver Kuliev and Svetlana Rechitsky
Herbert Wertheim College of Medicine, Florida International University, Miami, FL and Reproductive Genetic Innovations, Northbrook, IL, USA
Preimplantation genetic testing (PGT1) is a practical option for couples at risk of having offspring with serious/fatal chromosomal or monogenic diseases. It has been used for up to 600 monogenic disorders (PGT‐M1). Moreover, it has been used for human leukocyte antigen (HLA) typing (PGT‐HLA1), enabling the births of many children whose matched bone marrows have proved life‐saving for siblings with congenital and acquired disorders requiring stem cell transplantation treatment.
Analysis of single cells or a few cells with a limited amount of available DNA has always presented a technical challenge, especially when PGT is faced with the need for accurate and rapid results from whole‐genome
