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Large scale whole genome and exome sequencing is uncovering a plethora of novel mutations
that cause highly penetrant, early-onset, severe, or later-onset life-threatening
dominant and recessive disorders. For couples who are known carriers of mutant alleles,
preimplantation genetic diagnosis enables the detection of genetic disorders in embryos
that have been fertilized in vitro, thereby avoiding their transmission to offspring. Traditional PGD methods require
a mutation and family specific work-up.
We and others have developed generic methods that can be readily applied for all transmitted
genetic disorders. They are termed karyomapping and haplarithmisis. The methods reconstructs
genome-wide haplotype architectures as well as the copy-number and segregational origin
of those haplotypes byemploying phased parental genotypes and deciphering WGA-distorted
SNP B-allele fractions. I will present the principles, the use and the results of
its implementation since clinical implementation. The introduction of genome wide
screening of embryo's raised novel ethical questions. The principles guiding embryo
selection and prioritization that are applied at our center according to the chromosomal
content and mutational load of the embryos, will be presented. I will present novel
technical developments broadening the scope of use. In addition, I will present new
insights in the origins and mechanisms leading to early meiotic and mitotic errors
as well as on the origin of mixoploid and chimaeric embryos.
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© 2019 Published by Elsevier Inc.
