Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

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dc.contributor.authorVolozonoka, Ludmila
dc.contributor.authorPerminov, Dmitry
dc.contributor.authorKorņejeva, Liene
dc.contributor.authorAlkšere, Baiba
dc.contributor.authorNovikova, Natālija
dc.contributor.authorPīmane, Evija Jokste
dc.contributor.authorBlumberga, Arita
dc.contributor.authorKempa, Inga
dc.contributor.authorMiskova, Anna
dc.contributor.authorGailīte, Linda
dc.contributor.authorFodina, Violeta
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.contributor.institutionDepartment of Obstetrics and Gynaecology
dc.date.accessioned2021-05-11T10:25:01Z
dc.date.available2021-05-11T10:25:01Z
dc.date.issued2018-08-01
dc.descriptionPublisher Copyright: © 2018, The Author(s).
dc.description.abstractPurpose: To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods: Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in their family with various inheritance traits—autosomal dominant (genes—ACTA2, HTT, KRT14), autosomal recessive (genes—ALOX12B, TPP1, GLB1) and X-linked (genes—MTM1, DMD). Whole genome amplification (WGA) for the day 5 embryo trophectoderm single biopsies was carried out by multiple displacement amplification (MDA) or polymerase chain reaction (PCR)-based technology OmniPlex and was used for direct (Sanger sequencing, fragment size analysis, SNaPshot) and indirect mutation assessment (STR marker haplotyping), and embryo aneuploidy testing by array comparative genome hybridization (aCGH). Results: Family haplotyping revealed informative/semi-informative microsatellite markers for all clinical cases for all types of inheritance. Indirect testing gave a persuasive conclusion for all embryos assessed, which was confirmed through direct testing. The overall allele dropout (ADO) rate was higher for PCR-based WGA, and MDA shows a better genomic recovery scale. Five euploid embryos were subjected to elective single embryo transfer (eSET), which resulted in four clinical pregnancies and birth of two healthy children, which proved free of disease causative variants running in the family postnataly. Conclusions: A developed multifactor PGT protocol can be adapted and applied to virtually any genetic condition and is capable of improving single gene disorder preimplantation genetic testing in a patient-tailored manner thus increasing pregnancy rates, saving costs and increasing patient reliability.en
dc.description.statusPeer reviewed
dc.format.extent16
dc.format.extent3409822
dc.identifier.citationVolozonoka, L, Perminov, D, Korņejeva, L, Alkšere, B, Novikova, N, Pīmane, E J, Blumberga, A, Kempa, I, Miskova, A, Gailīte, L & Fodina, V 2018, 'Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing', Journal of Assisted Reproduction and Genetics, vol. 35, no. 8, pp. 1457-1472. https://doi.org/10.1007/s10815-018-1187-4
dc.identifier.doi10.1007/s10815-018-1187-4
dc.identifier.issn1058-0468
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/4156
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85045829703&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofJournal of Assisted Reproduction and Genetics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectAneuploidy
dc.subjectEmbryo
dc.subjectPreimplantation genetic testing
dc.subjectSingle gene disorder
dc.subjectWhole genome amplification
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectReproductive Medicine
dc.subjectGenetics
dc.subjectObstetrics and Gynaecology
dc.subjectDevelopmental Biology
dc.subjectGenetics(clinical)
dc.titlePerformance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testingen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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