Browsing by Author "Fodina, Violeta"
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Item Anxiety and Depression Symptoms among Infertile Couples Undergoing ART in Latvia : A Cross-Sectional Non-Randomized Single-Centre Study(2024-02-09) Popkova, Darja; Bukova-Žideļūna, Aija; Ērenpreiss, Juris; Fodina, Violeta; Institute of Public Health; Rīga Stradiņš UniversityAim: The aim of the study was to evaluate the presence of anxiety and depression among infertile couples undergoing infertility treatment in Latvia. Materials and methods: In this cross-sectional study we compared anxiety and depression symptoms in couples diagnosed with primary infertility (111 women and 55 male), evaluating male and female symptoms separately and together. The level of anxiety and depression were measured using Generalized Anxiety Disorder Scale (GAD-7) and Patient Health Questionnaire-9 (PHQ-9). Results: Upon assessing anxiety and depression level scores mild anxiety is predominantly observed in couples undergoing ART cycles for the first time, accounting for 44.6%, compared to those undergoing it for the 2nd and 3rd time, where the prevalence is equal and stands at 40.7%. Conversely, a noteworthy trend is discerned in patients undergoing ART multiple times, revealing a higher prevalence of moderate and severe anxiety, at 18.6% and 9.3%, respectively. The highest prevalence of depression symptoms is observed in individuals undergoing their second ART cycle and beyond. Particularly noteworthy is the substantial proportion of these patients, with 36.0% experiencing mild and 17.7% experiencing moderate depression symptoms. Conclusions: The experience of undergoing artificial reproductive technology treatment multiple times is associated with heightened prevalence of depression and anxiety among infertile couples. These conclusions highlight the importance of addressing mental health aspects in the context of infertility and ART cycles.Item Case of Inherited Partial AZFa Deletion without Impact on Male Fertility(2019-10-31) Alksere, Baiba; Berzina, Dace; Dudorova, Alesja; Conka, Una; Andersone, Santa; Pimane, Evija; Krasucka, Sandra; Blumberga, Arita; Dzalbs, Aigars; Grinfelde, Ieva; Vedmedovska, Natalija; Fodina, Violeta; Erenpreiss, Juris; Rīga Stradiņš UniversityMale factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.Item Exploring the Potential of Exome Sequencing in Idiopathic Azoospermia : A Genetic Burden and Network Analysis Study(2023-08-17) Alkšere, Baiba; Puzuka, Agrita; Lazovska, Marija; Vainselbaum, Ninel Miriam; Vasilonoks, Janis Kristaps; Penka, Elvita; Fodina, Violeta; Ērenpreiss, Juris; Department of Biology and Microbiology; Scientific Laboratory of Molecular GeneticsThe purpose of this study was to investigate the linkage of the association of azoospermia phenotype with genetic alterations, involved in genome instability. Male infertility is a multifactorial pathology, and genetic alterations might be the underlying factors in majority of cases of severe male infertility. The recent emergence of next-generation sequencing offers an opportunity to analyze many genes and their interactions at once, and whole-exome sequencing (WES) together with whole-genome sequencing (WGS) was recently suggested for implementation of diagnosis workup in severe infertility cases. However, the reports on WES in conjunction with burden tests and gene network analysis are scarce or lacking in cases of severe male infertility. WES was performed on 21 nonobstructive azoospermia patients. DNA samples were sequenced using the Twist Comprehensive Exome Panel. Genetic burden test was performed with Testing Rare vAriants using Public Data. Protein interactions were investigated with ConsensusPathDB and Cytoscape. For single nucleotide variants and copy number variations (CNV) analysis, samples were analyzed with the Illumina's BaseSpace Variant Interpreter. Genetic variant burden was found elevated in 1,473 genes out of 30,000 known testis expressed genes. Three hundred and two genes with increased loss-of-function (LoF) variant set were present in more than one sample. Overrepresentation analysis with pathway-based set of genes with high variant burden demonstrated 26 pathways. Overrepresentation analysis with protein complex-based gene sets obtained 14 sets, showing the involvement in cell proliferation and DNA repair. Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) network analysis with Cytoscape identified two clusters: (1) genes, involved in DNA binding/condensation and repair processes and (2) genes with the role in ribosome biosynthesis and gene expression processes. Increased loss of function germline variant burden and sumoylation may have critical significance in spermatogenesis. These parameters may be used for focused diagnosis in nonobstructive azoospermia patients. This may have both general significance for the decreased organism functionality but in particular is critical in spermatogenesis.Item First preimplantation genetic testing case for monogenic disease in Latvia(2017-12-22) Perminov, Dmitry; Voložonoka, Ludmila; Korņejeva, Liene; Jokste-Pīmane, Evija; Blumberga, Arita; Krasucka, Sandra; Seimuškina, Nellija; Kovaļova, Irina; Fodina, Violeta; Rīga Stradiņš UniversityHuntington’s disease (HD) is fatal neurodegenerative disease caused by a (CAG) triplet repeat expansion in the Huntingtin (HTT) gene. Inheritance pattern of the disease is autosomal dominant and onset depending on triplet repeat count. Transgenerational HD transmission can be avoided by preimplantation genetic diagnosis (PGD). Here, we report the first preimplantation genetic testing case for monogenic disease, in Latvia. The result of our work led to the birth of healthy child with normal HTT alleles in his genome. We describe a PGD strategy and testing algorithm that can be applied to any couple at risk of transmitting monogenic disease.Item A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia : Case report(2021-12) Alksere, Baiba; Kornejeva, Liene; Grinfelde, Ieva; Dzalbs, Aigars; Enkure, Dace; Conka, Una; Andersone, Santa; Blumberga, Arita; Nikitina-Zake, Liene; Kangare, Liga; Radovica-Spalvina, Ilze; Vasiljeva, Inta; Gailite, Linda; Erenpreiss, Juris; Fodina, Violeta; Rīga Stradiņš UniversityHereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2]. The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]. We report here the case of a patient with a novel inherited allelic variant in the EDA gene – NM_001399.5:c.337C>T (p.Gln113*) – in the heterozygous state. Targeted family member screening was conducted and other carriers of this EDA gene pathogenic variant were identified and phenotypically characterised. The patient subsequently underwent in vitro fertilisation with preimplantation genetic testing for monogenic diseases (PGT-M).Item The outcomes after transfers of embryos with chromosomal mosaicism : a single reproductive medicine center experience at iVF Riga clinic(2020) Alksere, Baiba; Grinfelde, Ieva; Kornejeva, Liene; Dzalbs, Aigars; Vedmedovska, Natalija; Kovalova, Irina; Conka, Una; Andersone, Santa; Krasucka, Sandra; Blumberga, Arita; Berzina, Dace; Fodina, Violeta; Rīga Stradiņš UniversityAim: The aim of this study is to summarize the outcomes of transfers of mosaic embryos, which were classified according to guidelines and in strong collaboration of reproductologists, clinical geneticists and patients approved as suitable for transfer. Material and Methods: Retrospective data were collected from 70 patients from a private IVF center to whom embryos with mosaic changes in chromosomal material were transferred from 2015 to 2019. Results and Conclusion: Implantation outcomes and continuing pregnancies showed slight differences, when compared to fully normal embryos. Artifacts have to be differentiated from undeniable aberrations, and correct interpretation of results must be done with following patient counselling and prenatal testing if necessary.Item Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing(2018-08-01) Volozonoka, Ludmila; Perminov, Dmitry; Korņejeva, Liene; Alkšere, Baiba; Novikova, Natālija; Pīmane, Evija Jokste; Blumberga, Arita; Kempa, Inga; Miskova, Anna; Gailīte, Linda; Fodina, Violeta; Scientific Laboratory of Molecular Genetics; Department of Obstetrics and GynaecologyPurpose: 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.