(Abstracted from Reprod Biomed Online 2017;35:264–271)
Karyomapping and single-nucleotide polymorphism (SNP) is a new technique for diagnosing single-gene disorders (SGDs) and chromosomal rearrangements, in which cells biopsied from embryos are lysed, undergo whole-genome amplification, and are analyzed using a microarray capable of interrogating a large number of SNPs. The data produced by karyomapping reveal whether the combination of alleles on the parental chromosome(s) carrying the mutation has been inherited, and karyomapping has the potential to diagnose more than 1 serious monogenic disorder or monogenic disorder combined with a chromosomal rearrangement at once.
Centre for Reproductive and Genetic Health, London (J.B.-N., K.D., K.L., H.E., E.D., P.S.); and Reprogenetics UK, Institute of Reproductive Sciences, Oxford (D.W., S.A., R.N.), United Kingdom