Welcome to this site dedicated to both the science and clinical application of preimplantation genetics. Professor Alan Handyside
July 2020 marks the 30th anniversary of the first births following IVF, embryo biopsy and preimplantation genetic testing (PGT), originally called preimplantation genetic diagnosis (PGD), for inherited disease world-wide. Since those initial births, the range of applications for PGT has expanded to include monogenic diseases, late onset conditions, cancer predisposition, HLA matching, chromosome aneuploidy and structural rearrangements. The technologies used to detect these conditions have also advanced with methods like single nucleotide polymorphism genotyping and karyomapping now providing a universal comprehensive test for inherited conditions genome-wide combined with the detection of chromosome abnormalities.
Over the same period, our understanding of preimplantation genetics and early human development has been revolutionised. We now know that human eggs and embryos have an exceptionally high incidence of chromosome abnormalities, for example, and that these are a major cause of IVF failure, miscarriage and in rare cases affected live births. PGT for abnormal chromosome number or aneuploidy (PGT-A) is, therefore, used widely in IVF to select embryos with normal chromosome number (euploid) to improve clinical outcomes per embryo transfer.
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