Case Report: Preimplantation Genetic Testing as a Basis for Parental Karyotype Correction
Elizaveta Musatova¹,²*, Konstantin Blagodatskikh¹, Nadezhda Shilova², Zhanna Markova², Marina Minzhenkova², Vladimir Kaimanov¹, Ekaterina Pomerantseva¹, Artur Isaev¹
¹Center of Genetics and Reproductive Medicine “GENETICO” PJS (Moscow, Russia)
²Research Center for Medical Genetics (Moscow, Russia)
Abstract
Objective: To describe some cases of preimplantation genetic testing (PGT) for chromosomal abnormalities; this can allow one to correct the parental karyotype.
Methods: PGT for chromosomal abnormalities in embryos obtained by in vitro fertilization (IVF) was performed by microarray comparative genomic hybridization (aCGH) and by next generation sequencing (NGS).
Results: In all four cases, a nonrandom character of embryo chromosomal imbalance was observed. The chromosomal abnormalities revealed in embryos allowed one to suspect the occurrence of different chromosomal rearrangements in parental karyotypes, namely, reciprocal translocations (cases i, ii and iv) and the complex chromosomal rearrangement (case iii). The subsequent patient karyotype analysis allowed us to identify the insertion in one case and reciprocal translocations in three other cases. At the moment of embryo testing, two couples had no information about their own karyotypes (cases i and ii), whereas in case iv, it was known that female patient had a normal female karyotype, but PGT results allowed to identify maternal reciprocal translocation. In case iii, it was known that the female patient had a reciprocal translocation, nevertheless, the PGT results served as a basis for an additional testing which revealed the complex chromosomal rearrangement.
Conclusion: The results of preimplantation genetic testing for aneuploidy can serve as a basis for parental karyotype analysis and its correction.
Keywords: case report, preimplantation genetic testing, karyotype, pregnancy, aneuploidy.