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 Monozygotic twinning associated with assisted reproductive technologies: a review

Reproduction ◽  
2008 ◽  
Vol 136 (4) ◽  
pp. 377-386 ◽  
Author(s):  
K I Aston ◽  
C M Peterson ◽  
D T Carrell
Keyword(s):  
Assisted Reproductive Technologies ◽  
Monozygotic Twin ◽  
Developed Countries ◽  
Reproductive Technologies ◽  
Monochorionic Twins ◽  
Fertility Treatments ◽  
Increased Risk ◽  
Mz Twins ◽  
Twin Pregnancies ◽  
Natural Incidence

Twin birth rates have increased markedly in developed countries since the 1970s for two primary reasons: increasing maternal age and the advent and increasing use of fertility treatments. In addition, monozygotic (MZ) twin pregnancies have been reported to occur at a significantly higher rate following assisted reproductive technologies (ART) procedures compared with the natural incidence. Twin pregnancies are of concern due to a dramatically increased risk of associated complications. Monozygotic twin pregnancies carry a 10–20% risk of twin–twin transfusion syndrome, and monoamniotic monochorionic twins are additionally at risk for cord entanglement. While the mechanisms and contributory factors for dizygotic twinning are well established, very little is known about the mechanisms involved in MZ twinning or the factors that contribute to its occurrence. In this review, we will discuss a number of potential mechanisms involved in MZ twinning and explore factors that may be contributing to the increased incidence of ART-associated MZ twins. An improved understanding of the factors that contribute to increased MZ twinning associated with ART will help to elucidate the poorly understood mechanisms involved in the process and will further aid in reducing the overall incidence of multiple pregnancies with their associated risks following ART procedures.

scholarly journals Assessing the epigenetic risks of assisted reproductive technologies: a way forward

2019 ◽  
Vol 63 (3-4-5) ◽  
pp. 217-222 ◽  
Author(s):  
Federica Zacchini ◽  
Silvestre Sampino ◽  
Adrian M. Stankiewicz ◽  
Thomas Haaf ◽  
Grazyna E. Ptak
Keyword(s):  
Assisted Reproductive Technologies ◽  
Safety Evaluation ◽  
Reproductive Technologies ◽  
Long Term Effects ◽  
Vitro Fertilization ◽  
Increased Risk ◽  
Health And Disease ◽  
Civilization Disease

Since the birth of the first baby conceived by in vitro fertilization (IVF), assisted reproductive technologies (ART) have been constantly evolving to accomodate needs of a growing number of infertile couples. Rapidly developing ART procedures are directly applied for human infertility treatment without prior long-term safety evaluation. Although the majority of ART babies are healthy at birth, a comprehensive assessment of the long-term risks associated with ART is still lacking. An increased risk of epigenetic errors has been associated with the use of ART, which may contribute to the onset of civilization disease later in adolescence/adulthood and/or in subsequent generations. Therefore, our investigations should not focus on (or be limited to) the occurrence of a few very rare imprinting disorders in ART children, which might be associated with parental age and/or the use of ART, but on the possibly increased disease susceptibilities later in life and their potential transmission to the subsequent generations. Retrospective studies do not offer exhaustive information on long-term consequences of ART. Animal models are useful tools to study long-term effects including transgenerational ones and the epigenetic risk of a given ART procedure, which could then be translated to the human context. The final goal is the establishment of common guidelines for assessing the epigenetic risk of ART in humans, which will contribute to two key objectives of the Horizon2020 programme, i.e. to improve our understanding of the causes and mechanisms underlying health and disease, and to improve our ability to monitor health and prevent/manage disease.

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.

Novel aspects of endometrial function: a biological sensor of embryo quality and driver of pregnancy success

2012 ◽  
Vol 24 (1) ◽  
pp. 68 ◽  
Author(s):  
Olivier Sandra ◽  
Nadéra Mansouri-Attia ◽  
Richard G. Lea
Keyword(s):  
Developmental Stages ◽  
Assisted Reproductive Technologies ◽  
Uterine Cavity ◽  
Reproductive Technologies ◽  
Biological Properties ◽  
Reproductive Capacity ◽  
Epigenetic Alterations ◽  
Uterine Receptivity ◽  
Blastocyst Development ◽  
Developmental Potential

Successful pregnancy depends on complex biological processes that are regulated temporally and spatially throughout gestation. The molecular basis of these processes have been examined in relation to gamete quality, early blastocyst development and placental function, and data have been generated showing perturbations of these developmental stages by environmental insults or embryo biotechnologies. The developmental period falling between the entry of the blastocyst into the uterine cavity to implantation has also been examined in terms of the biological function of the endometrium. Indeed several mechanisms underlying uterine receptivity, controlled by maternal factors, and the maternal recognition of pregnancy, requiring conceptus-produced signals, have been clarified. Nevertheless, recent data based on experimental perturbations have unveiled unexpected biological properties of the endometrium (sensor/driver) that make this tissue a dynamic and reactive entity. Persistent or transient modifications in organisation and functionality of the endometrium can dramatically affect pre-implantation embryo trajectory through epigenetic alterations with lasting consequences on later stages of pregnancy, including placentation, fetal development, pregnancy outcome and post-natal health. Developing diagnostic and prognostic tools based on endometrial factors may enable the assessment of maternal reproductive capacity and/or the developmental potential of the embryo, particularly when assisted reproductive technologies are applied.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic

2021 ◽  
pp. 105566562110698
Author(s):  
Kristaninta Bangun ◽  
Jessica Halim ◽  
Vika Tania
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Surgical Techniques ◽  
Chromosome 17 ◽  
Long Term Effects ◽  
Surgical Strategies ◽  
Increased Risk ◽  
The Cost

Chromosome 17 duplication is correlated with an increased risk of developmental delay, birth defects, and intellectual disability. Here, we reported a female patient with trisomy 17 on the whole short arm with bilateral complete cleft lip and palate (BCLP). This study will review the surgical strategies to reconstruct the protruding premaxillary segment, cleft lip, and palate in trisomy 17p patient. The patient had heterozygous pathogenic duplication of chromosomal region chr17:526-18777088 on almost the entire short arm of chromosome 17. Beside the commonly found features of trisomy 17p, the patient also presented with BCLP with a prominent premaxillary portion. Premaxillary setback surgery was first performed concomitantly with cheiloplasty. The ostectomy was performed posterior to the vomero-premaxillary suture (VPS). The premaxilla was firmly adhered to the lateral segment and the viability of philtral flap was not compromised. Two-flap palatoplasty with modified intravelar veloplasty (IVV) was performed 4 months after. Successful positioning of the premaxilla segment, satisfactory lip aesthetics, and vital palatal flap was obtained from premaxillary setback, primary cheiloplasty, and subsequent palatoplasty in our trisomy 17p patient presenting with BLCP. Postoperative premaxillary stability and patency of the philtral and palatal flap were achieved. Longer follow-up is needed to evaluate the long-term effects of our surgical techniques on inhibition of midfacial growth. However, the benefits that the patient received from the surgery in improving feeding capacity and facial appearance early in life outweigh the cost of possible maxillary retrusion.

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.

Asymptomatic postoperative deep vein thrombosis and the development of postthrombotic syndrome

2005 ◽  
Vol 93 (02) ◽  
pp. 236-241. ◽  
Author(s):  
Lars Jorgensen ◽  
Michael Crawford ◽  
Peer Wille-Jørgensen
Keyword(s):  
Screening Method ◽  
Postthrombotic Syndrome ◽  
Long Term Effects ◽  
Vein Thrombosis ◽  
Treatment Regimens ◽  
Increased Risk ◽  
Reference Databases ◽  
Deep Vein

SummaryPerioperative antithrombotic clinical regimens have reduced the incidence of postoperative deep venous thrombosis (DVT). Long-term effects of asymptomatic postoperative DVT have been studied in a number of clinical trials and the present review describes the clinical significance of asymptomatic postoperative DVT regarding the possible development of postthrombotic syndrome (PTS).We performed a systematic review of reference databases focusing upon studies including patients suspected of having postoperative DVT and reporting subsequent cases of PTS at the end of a well-defined follow-up period. The included studies were stratified according to type of screening method and applied statistics. Over-all evaluation included metaanalyses based upon the Cochrane software package. The overall relative risk of developing PTS was 1.58 (95% confidence intervals: 1.24 – 2.02) in patients suffering from asymptomatic DVT as compared to patients without DVT ( p < 0.0005).In conclusion, asymptomatic postoperative DVT is associated with an increased risk of late development of PTS. The finding emphasizes that postoperative DVT, diagnosed by means of well-defined objective measures, remains the correct scientific endpoint in trials evaluating the efficacy of preoperative antithrombotic treatment regimens.

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.

The influence of disordered fat metabolism on male fertility at the reproductive age and the effectiveness of the ECF programs

2014 ◽  
Vol 60 (5) ◽  
pp. 34-42 ◽  
Author(s):  
Irina I Vityazeva ◽  
Mariya V Altashina ◽  
Ekaterina A Troshina
Keyword(s):  
Male Fertility ◽  
Assisted Reproductive Technologies ◽  
Fat Metabolism ◽  
Developed Countries ◽  
Reproductive Technologies ◽  
Negative Influence ◽  
Reproductive Age ◽  
Excessive Body Weight ◽  
Prevalence Of Obesity ◽  
The Developed Countries

The excessive body weight and obesity in the men of the reproductive age exert the negative influence on their reproductive system and can promote the development of infertility. The high prevalence of obesity and the reduction of the birth rate in the developed countries stimulate the extensive investigations into the mechanisms by which the excess adipose tissue affects male fertility. The authors overview the literature publications concerning the hormonal profile and the adipokine level, as well as disturbance of spermatogenesis in the men with disordered fat metabolism with special reference to the peculiarities of the management of infertility with the application of the assisted reproductive technologies.

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