scholarly journals Хромосомні аномалії у чоловіків із різним ступенем порушення сперматогенезу

2013 ◽  
Vol 4 (1) ◽  
pp. 14-22 ◽  
Author(s):  
L. Y. Pylyp ◽  
L. A. Spinenko ◽  
V. D. Zukin ◽  
N. M. Bilko
Keyword(s):  
Assisted Reproductive Technologies ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Sperm Count ◽  
Reproductive Technologies ◽  
Chromosomal Mosaicism ◽  
Male Factor ◽  
Increased Risk ◽  
Cytogenetic Studies

Chromosomal abnormalities are among the most common genetic causes of spermatogenic disruptions. Carriers of chromosomal abnormalities are at increased risk of infertility, miscarriage or birth of a child with unbalanced karyotype due to the production of unbalanced gametes. The natural selection against chromosomally abnormal sperm usually prevents fertilization with sperm barring in cases of serious chromosomal abnormalities. However, assisted reproductive technologies in general and intracytoplasmic sperm injection in particular, enable the transmission of chromosomal abnormalities to the progeny. Therefore, cytogenetic studies are important in patients with male factor infertility before assisted reproduction treatment. The purpose of the current study was to investigate the types and frequencies of chromosomal abnormalities in 724 patients with infertility and to estimate the risk of chromosomal abnormalities detection in subgroups of patients depending on the severity of spermatogenic disruption, aiming at identifying groups of patients in need of cytogenetic studies. Karyotype analysis was performed in 724 blood samples of men attending infertility clinic. Chromosomal preparation was performed by standard techniques. At least 20 GTG-banded metaphase plates with the resolution from 450 to 750 bands per haploid set were analysed in each case. When chromosomal mosaicism was suspected, this number was increased to 50. Abnormal karyotypes were observed in 48 (6.6%) patients, including 67% of autosomal abnormalities and 33% of gonosomal abnormalities. Autosomal abnormalities were represented by structural rearrangements. Reciprocal translocations were the most common type of structural chromosomal abnormalities in the studied group, detected with the frequency of 2.6% (n = 19), followed by Robertsonian translocation, observed with the frequency of 1.2% (n = 9). The frequency of inversions was 0.6% (n = 4). Gonosomal abnormalities included 14 cases of sex chromosome aneuploidy and 2 cases of terminal deletion of Y chromosome. Klinefelter syndrome was detected in 67% of patients with azoospermia. A significant increase in the frequency of numerical chromosomal abnormalities was observed in a group of patients with azoospermia (P < 0.001). No differences were detected in the frequency of structural abnormalities in subgroups of patients. An increase in the frequency of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected with frequency 1.1% in a group of patients with normospermia, 1.9% in a group of patients with asthenozoospermia, 4.3% in patients with asthenoteratozoospermia, 6.5% in patients with oligoasthenozoospermia, 11.6% in patients with oligoasthenoteratozoospermia and 35% in a group of patients with azoospermia. Significant increase of the prevalence of chromosomal abnormalities was detected in subgroups of patients with azoospermia (P < 0.001) and oligozoospermia (P = 0.001) as compared to patients with normozoospermia. These results are considered to be criteria for selection of patients in need of cytogenetic studies before in vitro fertilization cycles because of the highest risk of chromosomal abnormalities detection. 

scholarly journals Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 602 ◽  
Author(s):  
Manuel Viotti
Keyword(s):  
Genetic Testing ◽  
Clinical Outcomes ◽  
Assisted Reproductive Technologies ◽  
Chromosomal Abnormalities ◽  
Reproductive Technologies ◽  
Chromosomal Mosaicism ◽  
Human Embryos ◽  
Chromosomal Anomalies ◽  
Structural Rearrangements ◽  
Preimplantation Genetic Testing

There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility—the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.

Optimization of the sperm processing protocol for subsequent molecular cytogenetic studies

2021 ◽  
Vol 66 (10) ◽  
pp. 603-609
Author(s):  
Anastasiya Aleksandrovna Tarlycheva ◽  
Zh. G. Markova ◽  
D. A. Yurchenko ◽  
N. V. Shilova
Keyword(s):  
Assisted Reproductive Technologies ◽  
Chromosomal Abnormalities ◽  
Pregnancy Termination ◽  
Reproductive Technologies ◽  
Fish Analysis ◽  
Art Programs ◽  
Molecular Cytogenetic ◽  
Male Gametes ◽  
Cytogenetic Studies ◽  
Normal Men

One of the causes of spontaneous pregnancy termination, infertility, and birth of children with development delay and malformations are chromosomal abnormalities (CA) as well as spontaneous aneuploidies in gametes of phenotypically normal parents. Often couples with reproductive problems, as well as spouses one of whom is a carrier of CA, turn to the programs of assisted reproductive technologies (ART) for preimplantation evaluation of the zygote chromosomal status. As part of ART programs, parental gametes are examined to assess the level of spontaneous aneuploidy. As a rule, the most accessible material for analysis is the ejaculate. Fluorescent in situ hybridization (FISH) is used to examine male gametes obtained from the ejaculate. However, this FISH-analysis has a number of limitations and difficulties because of the peculiarities of the sperm head structure, namely the supercondensed state of chromosome chromatin. In order to optimize the FISH protocol, five different protocols were used for pre-hybridization processing of ejaculate samples obtained from nine phenotypically normal men. A comparative analysis of hybridization efficiency showed that the protocol using tris(2-carboxyethyl)phosphine hydrochloride (TCEP) as a decondensation agent was the most effective for subsequent molecular cytogenetic studies. The developed hybrid protocol combining proteolytic pretreatment, TCEP and thermal decondensation can be used when other protocols for pre-hybridization treatment of ejaculate preparations are not effective.

scholarly journals Prevalence of pathogenic copy number variants among children conceived by donor oocyte

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sandra Monfort ◽  
Carmen Orellana ◽  
Silvestre Oltra ◽  
Mónica Rosello ◽  
Alfonso Caro-Llopis ◽  
...  
Keyword(s):  
In Vitro Fertilization ◽  
Copy Number ◽  
Assisted Reproductive Technologies ◽  
Copy Number Variants ◽  
Reproductive Technologies ◽  
Significant Excess ◽  
Vitro Fertilization ◽  
Donor Oocyte ◽  
Increased Risk

AbstractDevelopment of assisted reproductive technologies to address infertility has favored the birth of many children in the last years. The majority of children born with these treatments are healthy, but some concerns remain on the safety of these medical procedures. We have retrospectively analyzed both the fertilization method and the microarray results in all those children born between 2010 and 2019 with multiple congenital anomalies, developmental delay and/or autistic spectrum disorder (n = 486) referred for array study in our center. This analysis showed a significant excess of pathogenic copy number variants among those patients conceived after in vitro fertilization with donor oocyte with respect to those patients conceived by natural fertilization (p = 0.0001). On the other hand, no significant excess of pathogenic copy number variants was observed among patients born by autologous oocyte in vitro fertilization. Further studies are necessary to confirm these results and in order to identify the factors that may contribute to an increased risk of genomic rearrangements, as well as consider the screening for genomic alterations after oocyte donation in prenatal diagnosis.

scholarly journals Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia

2021 ◽  
Vol 141 (5) ◽  
pp. 39-45
Author(s):  
Nguyen Hoai Bac ◽  
Hoang Long
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Obstructive Azoospermia ◽  
Genetic Characteristics ◽  
Azfc Deletion ◽  
Genetic Abnormalities ◽  
History Of ◽  
Male Patients ◽  
Infertile Patients

We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

scholarly journals A-58 Rare Case of Klinefelter Syndrome with 13/14 Balanced Translocation and Absence Epilepsy: Impact of Combined Genotypes on Cognitive Neuropsychological Phenotype

2019 ◽  
Vol 34 (6) ◽  
pp. 918-918
Author(s):  
S Shagalow ◽  
R Facchini ◽  
D Masur ◽  
E Weiss ◽  
S Schneider ◽  
...  
Keyword(s):  
Motor Coordination ◽  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Chromosome Rearrangement ◽  
Receptive Language ◽  
Absence Epilepsy ◽  
Language Therapy ◽  
Balanced Translocation ◽  
Increased Risk

Abstract Objective Klinefelter syndrome (KS) and Robertsonian translocation of 13/14 [rob t(13;14)] are the most common sex-chromosome disorder and chromosome rearrangement, respectively (Engels et al., 2008; Skakkebæk, Wallentin, & Gravholt, 2015). Both are associated with increased risk of cognitive/intellectual disability (ID). A case of KS and de novo (i.e., unbalanced) rob t(13;14) was previously reported (Gül & Şayli, 1994). A case of KS with balanced rob t(13;14) and well-controlled generalized absence epilepsy will be presented with consideration for pediatric neuropsychological practice. Method Neuropsychological evaluation of a 12-year-old, right-handed boy diagnosed with comorbid KS, rob t(13;14), and generalized absence epilepsy. Particular attention was given to language given his KS diagnosis. The patient is in a 12:1:1 self-contained classroom with speech-language therapy and social skills groups in place. The patient’s mother is confirmed to have rob t(13;14), whereas paternal contribution is unknown. Results Adolescent with a history of language difficulties, especially comprehension. Recent school-based WISC-V FSIQ was in the extremely low range (SS = 53), with weaker verbal comprehension and working memory. Academic achievement was globally very low. Expressive and receptive language, visual perception and motor coordination were extremely low to low average. Verbal list learning and visual attention were near average to average. Conclusions This case contributes to the very limited body of pediatric neuropsychological data on the combined genotype of KS with rob t(13;14) and absence epilepsy. Both the KS and rob t(13;14) cognitive phenotypes have been characterized as highly variable, with the comorbidity a likely increased risk for ID.

Infecundity and Infertility

2019 ◽  
Author(s):  
Marie Thoma ◽  
Carie Cox ◽  
Jasmine Fledderjohann ◽  
Rudolph Kantum Adageba
Keyword(s):  
Public Health ◽  
Reproductive Health ◽  
Sexual And Reproductive Health ◽  
Assisted Reproductive Technologies ◽  
Significant Proportion ◽  
Well Being ◽  
Reproductive Technologies ◽  
Reproductive Age ◽  
Increased Risk ◽  
Global Epidemiology

This is an advance summary of a forthcoming article in the Oxford Research Encyclopedia of Global Public Health. Please check back later for the full article. Infertility remains a neglected area in sexual and reproductive health, yet its consequences are staggering. Infertility is estimated to impact about 15% (estimates range from 48 million to 180 million) of couples of reproductive age worldwide. It is associated with adverse physical and mental health outcomes, financial distress, severe social stigma, increased risk of domestic abuse, and marital instability. While men and women are equally likely to be infertile, women often bear the societal burden of infertility, particularly in societies where a woman’s identity and social value is closely tied to her ability to bear children. Despite these consequences, disparities in access to infertility treatment between low- and high-income populations persist, given the high cost and limited geographic availability of diagnostic services and assisted reproductive technologies. In addition, a significant proportion of infertility arises from preventable factors, such as smoking, sexually transmitted infections, pregnancy-related infection or unsafe abortion, and environmental contaminants. Accordingly, programs that address the equitable prevention and treatment of infertility are not only in keeping with a reproductive rights perspective, but can also improve public health. However, progress on infertility as a global concern in the field of sexual and reproductive health and rights is stymied by challenges in understanding the global epidemiology of infertility, including its causes and determinants, barriers to accessing quality infertility care, and a lack of political will and attention to this issue. Tracking and measurement of infertility is highly complex, resulting in considerable ambiguity about its prevalence and stratification of reproduction globally. A renewed global focus on infertility epidemiology, risk factors, and access to and receipt of quality of care will support individuals in trying to reach their desired number and spacing of children and improve overall health and well-being.

scholarly journals Epigenetics and Neurological Disorders in ART

2019 ◽  
Vol 20 (17) ◽  
pp. 4169
Author(s):  
Marina La Rovere ◽  
Marica Franzago ◽  
Liborio Stuppia
Keyword(s):  
Neurological Disorders ◽  
Assisted Reproductive Technologies ◽  
Current Knowledge ◽  
Developed Countries ◽  
Reproductive Technologies ◽  
Epigenetic Modifications ◽  
Epigenetic Alterations ◽  
Long Term Effects ◽  
Increased Risk

About 1–4% of children are currently generated by Assisted Reproductive Technologies (ART) in developed countries. These babies show only a slightly increased risk of neonatal malformations. However, follow-up studies have suggested a higher susceptibility to multifactorial, adult onset disorders like obesity, diabetes and cardiovascular diseases in ART offspring. It has been suggested that these conditions could be the consequence of epigenetic, alterations, due to artificial manipulations of gametes and embryos potentially able to alter epigenetic stability during zygote reprogramming. In the last years, epigenetic alterations have been invoked as a possible cause of increased risk of neurological disorders, but at present the link between epigenetic modifications and long-term effects in terms of neurological diseases in ART children remains unclear, due to the short follow up limiting retrospective studies. In this review, we summarize the current knowledge about neurological disorders promoted by epigenetics alterations in ART. Based on data currently available, it is possible to conclude that little, if any, evidence of an increased risk of neurological disorders in ART conceived children is provided. Most important, the large majority of reports appears to be limited to epidemiological studies, not providing any experimental evidence about epigenetic modifications responsible for an increased risk.

scholarly journals Chromosomal abnormalities and atrial fibrillation and ischemic stroke incidence: a nationwide population-based study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Jun Hwan Cho ◽  
Eue-Keun Choi ◽  
In-Ki Moon ◽  
Jin- Hyung Jung ◽  
Kyung-Do Han ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Down Syndrome ◽  
Ischemic Stroke ◽  
Turner Syndrome ◽  
Chromosomal Abnormalities ◽  
Klinefelter Syndrome ◽  
Control Group ◽  
Stroke Incidence ◽  
Cox Regression Analysis ◽  
Increased Risk

Abstract There is a paucity of information as to whether chromosomal abnormalities, including Down Syndrome, Turner Syndrome, and Klinefelter Syndrome, have an association with atrial fibrillation (AF) and ischemic stroke development. Data from 3660 patients with Down Syndrome, 2408 with Turner Syndrome, and 851 with Klinefelter Syndrome without a history of AF and ischemic stroke were collected from the Korean National Health Insurance Service (2007–2014). These patients were followed-up for new-onset AF and ischemic stroke. Age- and sex-matched control subjects (at a ratio of 1:10) were selected and compared with the patients with chromosomal abnormalities. Down Syndrome patients showed a higher incidence of AF and ischemic stroke than controls. Turner Syndrome and Klinefelter Syndrome patients showed a higher incidence of AF than did the control group, but not of stroke. Multivariate Cox regression analysis revealed that three chromosomal abnormalities were independent risk factors for AF, and Down Syndrome was independently associated with the risk of stroke. In conclusion, Down Syndrome, Turner Syndrome, and Klinefelter Syndrome showed an increased risk of AF. Down Syndrome patients only showed an increased risk of stroke. Therefore, AF surveillance and active stroke prevention would be beneficial in patients with these chromosomal abnormalities.

Embryo Culture Conditions and the Epigenome

2018 ◽  
Vol 36 (03/04) ◽  
pp. 211-220 ◽  
Author(s):  
Sneha Mani ◽  
Monica Mainigi
Keyword(s):  
Embryo Culture ◽  
Assisted Reproductive Technologies ◽  
Culture Media ◽  
Reproductive Technologies ◽  
Common Mechanism ◽  
Success Rates ◽  
Blastocyst Development ◽  
Increased Risk ◽  
Modifiable Factors

AbstractAssisted reproductive technologies (ARTs) lead to an increased risk for pregnancy complications, congenital abnormalities, and specific imprinting disorders. Epigenetic dysfunction is thought to be one common mechanism which may be affecting these outcomes. The timing of multiple ART interventions overlaps with developmental time periods that are particularly vulnerable to epigenetic change. In vitro embryo culture is known to impact blastocyst development, in vitro fertilization (IVF) success rates, as well as neonatal outcomes. Embryo culture, in contrast to other procedures involved in ART, is obligatory, and has the highest potential for causing alterations in epigenetic reprograming. In this review, we summarize progress that has been made in exploring the effects of embryo culture, culture media, and oxygen tension on epigenetic regulation in the developing embryo. In humans, it is difficult to isolate the role of embryo culture on epigenetic perturbations. Therefore, additional well-controlled animal studies isolating individual exposures are necessary to minimize the epigenetic effects of modifiable factors utilized during ART. Findings from these studies will likely not only improve IVF success rates but also reduce the risk of adverse perinatal outcomes.

scholarly journals Corpus luteal contribution to maternal pregnancy physiology and outcomes in assisted reproductive technologies

2013 ◽  
Vol 304 (2) ◽  
pp. R69-R72 ◽  
Author(s):  
Kirk P. Conrad ◽  
Valerie L. Baker
Keyword(s):  
Embryo Transfer ◽  
Assisted Reproductive Technologies ◽  
Plasma Osmolality ◽  
Reproductive Technologies ◽  
Fresh Embryo Transfer ◽  
Pregnant Rats ◽  
Infertile Women ◽  
Increased Risk ◽  
Adverse Pregnancy ◽  
Donor Eggs

Investigations in the rat model of pregnancy indicate an important role for the corpus luteal (CL) hormone relaxin in the maternal circulatory and osmoregulatory changes in pregnancy, which are epitomized by profound vasodilation and modest hypoosmolality, respectively. In a pilot study of infertile women who became pregnant through donor eggs, in vitro fertilization, and embryo transfer, the gestational rise in glomerular filtration and fall in plasma osmolality were markedly subdued. Because these women were infertile, they lacked a CL and circulating relaxin (and possibly other vasoactive CL hormones). Based on these findings in pregnant rats and women, we hypothesize that infertile women conceiving through donor eggs will have overall subdued circulatory changes (e.g., attenuated reduction in systemic vascular resistance and subdued increase in cardiac output) particularly during early pregnancy when CL hormones predominate before the full development and maturation of the placenta. In contrast, infertile women conceiving by autologous eggs retrieved after ovarian stimulation and fresh embryo transfer may have a relatively hyperdynamic circulation due to the presence of many CL (up to 20 or more) and higher circulating levels of vasodilatory ovarian hormones such as relaxin. Emerging evidence suggests that women undergoing Assisted Reproductive Technologies (ART) have increased risk for adverse pregnancy outcomes such as preeclampsia and small for gestational-age babies. This increased risk may be partly caused by the maternal milieu, which is not physiological in ART pregnancies due to the abnormal status of the CL.

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