Translocation recurrent miscarriage

BACKGROUND: Restorative reproductive medicine represents a comprehensive approach to subfertility (infertility and miscarriage) with investigations, diagnoses, and treatments combined with fertility charting to restore optimal reproductive function. Restorative reproductive medicine assumes that multiple factors need to be identified and treated (cycle optimization) for up to 12 cycles to achieve a successful pregnancy. Conception can occur during normal intercourse without intrauterine insemination or in vitro fertilization...

The frequency and distribution of chromosomal abnormalities and the impact of parental chromosomal aberration on the pregnancy outcomes of couples with recurrent pregnancy loss remains controversial. 3235 RPL couples who experienced two or more miscarriages before 20 weeks were diagnosed in our tertiary referral hospital during 2008-2018 and included in the single-center retrospective cohort study covering a 10-year period. Chromosome aberration was detected in 121 (3.74%) among 3235 RPL couples which included 75 female and 46 male cases at an individual level...

BACKGROUND & OBJECTIVE: One of the major genetic causes of recurrent spontaneous abortions is parental chromosomal abnormalities. The objectives of the study were to determine, compare and analyze the incidence and distribution of chromosomal abnormalities in couples with recurrent miscarriages from Northeastern Iran. METHODS: This study was conducted at Ghaem Hospital, Mashhad, Iran. We evaluated karyotype results of 608 couples with history of recurrent spontaneous abortion...

PURPOSE: Recurrent Miscarriages (RM) commonly complicates the reproductive outcome where prominently chromosomal aberrations and molecular factors lead to recurrent miscarriages. We investigated couples with RM for cytogenetic abnormalities and Y chromosome microdeletions in males along with detection of aneuploidies de novo in the product of conception from a highly ethnic consanguineous population (Kashmir, North India) . STUDY DESIGN: Chromosomal analysis was done by Karyotyping on peripheral blood lymphocyte cultures and analyzed by Cytovision software Version 3...

An appropriate development of the placenta consisting of trophoblast cell migration, invasion, proliferation, and apoptosis, is essential to establishing and maintaining a successful pregnancy. Ubiquitin-specific protease 2a (USP2a) regulates the processes of metastasis in multiple tumor cells. Yet, no known research has focused on exploring the effect of USP2a on trophoblasts and its possible mechanism in the pathogenies of recurrent miscarriage (RM). In this study, we first detected the decreased mRNA levels and the protein levels of USP2a in placental villous tissue samples from the RM patients...

Patients with Klinefelter syndrome (KS) show a typically 47,XXY karyotype; however, some variations have been observed, including 47,XX,der(Y), 46,XY/47,XXY, 48,XXXY, 48,XXYY, and mosaicism or structural sex chromosome abnormalities in some patients. In the literature, a rare KS variant, 47,X,del(Xq),Y karyotype, was reported in only a few cases prior to 1981. A 40-year-old man (IV-3) was referred to our department due to infertility. His phenotype did not differ from the classic KS phenotype. He had two siblings (1-male; 1-female)...

Chromosomal aberrations such as parental balanced translocation contribute to a significant proportion of recurrent pregnancy losses. These have extreme genetic implications on the foetus which can either cause physical and/or mental retardation or early death. In this study, we report a unique clinical case of a couple with three consecutive pregnancy losses and we aim to determine the genetic abnormalities causing the miscarriages. Conventional cytogenetic and molecular genetic analysis were performed on the products of conception as well as for the parents...

Recurrent pregnancy loss (RPL) is an obstetrical complication that affects about 3% of reproductive age couples. Genetic and non-genetic causes of RPL are multiple; however, aneuploidy is the most common obstetrical complication that can explain single and recurrent pregnancy loss (present in about 60% of recognized clinical pregnancies which result in a miscarriage). Parental karyotyping will only be of potential benefit for 2 to 5 percentage of RPL couples who are translocation carriers. Products of conception (POC) karyotype analysis has been used to direct management in RPL and has been shown to be cost-effective, but the technique has many limitations including high culture failure rate and maternal cell contamination...

STUDY QUESTION: Should women with X chromosome abnormalities (XCAs) be recommended to have embryos selected by both morphological and cytogenetic assessment through preimplantation genetic testing (PGT) rather than morphological assessment only in conventional IVF/ICSI treatment? SUMMARY ANSWER: PGT is not a preferred recommendation for women with XCAs in the absence of other PGT indications. WHAT IS KNOWN ALREADY: XCAs are the most frequent sort of chromosomal aberrations in infertile women...

CONTEXT: Recurrent pregnancy loss (RPL) is a devastating reproductive problem that affects more than 2% of couples who are trying to conceive. Chromosomal rearrangements in either carrier are a major cause of clinically recognized abortion. AIMS: The purpose of this study is to report the prevalence of chromosome abnormalities in RPL and provide clinical characteristics of couples with two and more miscarriages. SETTINGS AND DESIGN: Genetic counseling in laboratory of histology housed in a Faculty of Medicine of Sfax...

BACKGROUND: Recurrent spontaneous abortion (RSA) is often idiopathic, but structural chromosomal abnormality is an important nosogenesis. Balanced translocations or inversions can lead to unbalanced gametes depending on the specific recombination and segregation patterns during meiosis. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or ongoing pregnancy of a fetus with an unbalanced karyotype...

PURPOSE: Patients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based on karyotypes found among the products of conception (POC), although factors influencing the success of assisted reproductive technologies (ART) in RBT couples are not established. METHODS: Cytogenetic results from 261 POC and offspring of the parents (113 women and 90 men) with RBT were evaluated...

We report a prenatally diagnosed case of partial trisomy 2p and partial monosomy 3p, resulting from unbalanced translocation (2;3)(p25.1;p25.3) of paternal origin. Parents were non consanguineous Caucasians, with familial history of recurrent miscarriages on the father's side. Detailed sonographic examination of the fetus showed a septated cystic hygroma measuring 6 mm at 13 weeks' gestation. Karyotyping and fluorescent in situ hybridization (FISH) analysis of cultured amniotic fluid cells revealed an unbalanced translocation der(3)t(2;3)(p25...

Disorders affecting the sperm, oocyte, or embryo may cause a significant fraction of spontaneous miscarriages and cases of recurrent pregnancy loss (RPL). Altered chromosomal integrity of sperm and oocytes, which is highly dependent of the age of the mother, represents a major cause of miscarriage and in turn RPL. Avoiding transfers of abnormal embryos is possible with preimplantation genetic testing for aneuploidies. Chromosomal anomalies may also be caused by structural rearrangements of one or several chromosomes in either parents, a finding encountered in 12% of couples with RPL, including in those who have had one or several healthy babies...

Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%-5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%-60% of first trimester abortion. Aim: To estimate the prevalence and nature of chromosomal anomalies in couples with recurrent miscarriage. Patients and Methods: This study included 224 couples with a history of 2 or more abortions...

Background and objectives: Reproductive disorders may occur not only due to environmental factors (air pollution, stressful lifestyle, previous abortions or the use of contraceptives) but also due to genetic factors. Materials and Methods: The aim of the study was to identify the range and frequency of chromosomal aberrations in couples ( n = 99) with infertility or recurrent miscarriages in Lithuania. The data were collected from the out-patient medical histories. The couples were divided into three groups based on pregnancy, childbirth and the number of miscarriages...

Background: Human reproduction is the most intricate event as ~ 20% of human pregnancies end in miscarriages for which chromosomal anomalies are a common factor. The chromosomal variations associated with reproductive failures include translocations, inversions, supernumerary marker chromosomes, heterochromatic polymorphisms, etc., Till date, the significance of heteromorphic variants in reproductive failures is unclear. Aim: The aim of this study is to investigate the role of chromosomal anomalies and polymorphic variations in reproductive failure...

INTRODUCTION: Knockout mouse model has shown a relationship between Slit2/Robo1 signalling and altered fertility. Altered expression by endometrial epithelium and trophoblast and is associated with the pathogenesis of pregnancy complications but few studies have investigated the expression of decidual Slit2 in miscarriage. METHODS: Expression profiles of Slit2 and Robo1 were measured in human endometrial tissues during the menstrual cycle phases (n = 30), in decidua tissues from recurrent miscarriage (n = 20) and healthy control (n = 20) at 6-8 weeks of gestation...

Background: Genetic factors could account for recurrent pregnancy loss (RPL). The RAN gene is a member of the "large RAS family" and a small GTPase that is essential for the translocation of Ribonucleic acid (RNA) and proteins through the nuclear pore. Mutation in the RAN constitutive gene could stop DNA synthesis and alter the expression of genes in the uterus, likely playing a role in recurrent miscarriage. Objective: The aim was to investigate the frequency of RAN (rs 14035) polymorphism in women with RPL compared with women without abortion history...

BACKGROUND: Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful in identifying these genetic causes. METHODS: We enrolled two girl siblings with ID. Trio whole-exome sequencing (WES) and Copy number variation sequencing (CNV-Seq) were performed for genetic molecular analysis in these probands and their parents...