ABSTRACT
Over a short period of time, single-cell technologies became a standard practice for diagnostic genetic laboratories, especially in the field of assisted reproduction and preimplantation genetic testing (PGT). Novel high-throughput methods, such as SNP microarrays and massive parallel sequencing, have shifted the PGT field from traditional fluorescence in situ hybridization and targeted PCR assays to the use of genome-wide haplotyping of single cells. The newly developed haplotyping-based PGT approaches have addressed major issues of conventional techniques and allow for simultaneous detection of single-gene disorders and aneuploidy in a single assay. Hence, comprehensive PGT is being rapidly implemented into clinical practice worldwide to assist in embryo selection for transfer. As a result of technological breakthroughs and advances in single-cell amplification and DNA analysis, PGT is now faster, more accurate, and precludes the development of custom designed assays. This chapter summarizes the recent progress made in the field of PGT and discusses the application of generic genome-wide haplotyping methods in clinical practice.
