Evaluation of embryo aneuploidy (PGT-A) and endometrial receptivity (ERA) testing in patients with recurrent implantation failure in ICSI cycles.

Objective: The objective of a study was to assess the ability of the pre-implantation genetic testing of embryos for aneuploidy (PGT-A) and Endometrial receptivity array (ERA)-alone or in combination to improve the clinical outcomes in intracytoplasmic sperm injection (ICSI) cycles in patients with repeated implantation failure (RIF).

Methods: This was a retrospective study of the 253 cycles with a history of the previous RIF. They were divided into four groups: Group I - frozen embryo transfers without any additional tests or procedures (pure FET),  = 72 cycles; Group II - FET with PGT-A,  = 87; Group III - FET with PGT-A and ERA,  = 72; Group IV - FET with ERA,  = 22.

A novel variant causing X-linked hypohidrotic ectodermal dysplasia: Case report.

Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, ). 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 outcomes after transfers of embryos with chromosomal mosaicism: a single reproductive medicine center experience at iVF Riga clinic.

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. 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. Implantation outcomes and continuing pregnancies showed slight differences, when compared to fully normal embryos.

Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss.

The analysis of products of conception (POC) is clinically important to establish the cause of early pregnancy loss. Data from such analyses can lead to specific interventions in subsequent natural or assisted conceptions. The techniques available to examine the chromosomal composition of POC have limitations and can give misleading results when maternal cell contamination (MCC) is overlooked.

The Correlation Between Abnormal Uterine Artery Flow in the First Trimester and Genetic Thrombophilic Alteration: A Prospective Case-Controlled Pilot Study.

Introduction: Evaluation of the first trimester uterine artery flow can predict the development of obstetrical complications. A genotype, making women prone to microthrombi. constitutes the main known susceptibility factor for anomalous development of placenta.

Case of Inherited Partial AZFa Deletion without Impact on Male Fertility.

Male 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.

Prevalence of testosterone deficiency among aging men with and without morbidities.

In this cross-sectional study 1852 men aged 40-70 years attending primary health care were invited to fill out the aging male symptoms (AMS) scale. Out of these, 1222 men were found positive for the AMS and agreed to provide blood samples for the general blood test, lipid profile, glucose levels, and assessment of both total and free testosterone (T) levels. Men were screened for the following morbidities and syndromes: dyslipidemia, arterial hypertension, obesity, type II diabetes, metabolic syndrome, and chronic obstructive pulmonary disease (COPD).

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

Purpose: 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.

First preimplantation genetic testing case for monogenic disease in Latvia.

Huntington'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).

A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.

Objectives: The PMCA gene family consists of 4 genes and at least 21 splice variants; among these, the Ca2+ ATPase 4 (PMCA4) gene encodes a plasma membrane protein abundantly expressed in several tissues, including the kidney, heart, and sperm. Knockout of PMCA4 causes infertility due to immotile sperm in mouse models. We therefore investigated variants in this gene for potential association with infertility in groups of Estonian (n = 191) and Latvian (n = 92) men with reduced sperm motility.