scholarly journals Polygenic Risk Scoring of Human Embryos: a Qualitative Study of Media Coverage

2021 ◽  
Author(s):  
Tiny Pagnaer ◽  
Maria Siermann ◽  
Pascal Borry ◽  
Olga Tšuiko
Keyword(s):  
Media Coverage ◽  
Well Being ◽  
Reproductive Technologies ◽  
Media Analysis ◽  
Human Embryos ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Polygenic Risk ◽  
Risk Scoring

Abstract Background Current preimplantation genetic testing (PGT) technologies enable embryo genotyping across the whole genome. Consequently, this has led to the development of polygenic risk scoring of human embryos (PGT-P). Recent implementation of PGT-P, including screening for intelligence, has been extensively covered by the media, raising major controversy. Considering the increasing demand for assisted reproduction, we evaluated how information about PGT-P is communicated in press media and explored the diversity of ethical themes present in the public debate.Methods LexisNexis Academic database and Google News were searched to identify articles about polygenic embryo screening. This led to 535 news articles. 59 original articles met the inclusion criteria. Inductive content analysis was used to analyse these articles.Results 8.8% of articles gave embryo polygenic scoring a positive portrayal, while 36.8% expressed a negative attitude. 54.4% were neutral, mostly highlighting limited practical value of the technology in in vitro fertilization (IVF) settings. We identified five main ethical themes that are also present in academic literature and the broader debate on reproductive technologies: a slippery slope towards designer babies, well-being of the child and parents, impact on society, deliberate choice and societal readiness.Conclusions Implementation of embryo polygenic profiling engenders a need for specific recommendations. Current media analysis discloses important ethical themes to consider when creating future guidelines for PGT-P.

scholarly journals Polygenic risk scoring of human embryos: a qualitative study of media coverage

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Tiny Pagnaer ◽  
Maria Siermann ◽  
Pascal Borry ◽  
Olga Tšuiko
Keyword(s):  
Media Coverage ◽  
Well Being ◽  
Reproductive Technologies ◽  
Media Analysis ◽  
Human Embryos ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Polygenic Risk ◽  
Risk Scoring

Abstract Background Current preimplantation genetic testing (PGT) technologies enable embryo genotyping across the whole genome. This has led to the development of polygenic risk scoring of human embryos (PGT-P). Recent implementation of PGT-P, including screening for intelligence, has been extensively covered by media reports, raising major controversy. Considering the increasing demand for assisted reproduction, we evaluated how information about PGT-P is communicated in press media and explored the diversity of ethical themes present in the public debate. Methods LexisNexis Academic database and Google News were searched to identify articles about polygenic embryo screening. This led to 535 news articles. 59 original articles met the inclusion criteria. Inductive content analysis was used to analyse these articles. Results 8.8% of articles gave embryo polygenic scoring a positive portrayal, while 36.8% expressed a negative attitude. 54.4% were neutral, mostly highlighting limited practical value of the technology in in vitro fertilization settings. We identified five main ethical themes that are also present in academic literature and the broader debate on reproductive technologies: a slippery slope towards designer babies, well-being of the child and parents, impact on society, deliberate choice and societal readiness. Conclusions Implementation of embryo polygenic profiling engenders a need for specific recommendations. Current media analysis discloses important ethical themes to consider when creating future guidelines for PGT-P.

NON-INVASIVE METHODS FOR STUDYING THE POTENTIAL OF HUMAN EMBRYO FOR IMPLANTATION

2021 ◽  
pp. 29-37
Author(s):  
Василий Николаевич Попов ◽  
Роман Борисович Стукалин ◽  
Валерия Александровна Грибанова
Keyword(s):  
Assisted Reproductive Technologies ◽  
Culture Media ◽  
Uterine Cavity ◽  
Married Couples ◽  
Reproductive Technologies ◽  
Preimplantation Embryos ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Non Invasive

В статье проводится анализ представленных на сегодня инвазивных и неинвазивных методов исследования преимплантационных эмбрионов. Показана эффективность преимплантационного генетического тестирования эмбрионов до переноса в полость матки. Также рассмотрены альтернативные менее инвазивные варианты изучения жизнеспособности эмбрионов, которые могли бы являться маркерами успешной имплантации. Проблема бесплодного брака с каждым годом становится все более и более значимой. Для части супружеских пар единственной возможностью рождения ребенка становится лечение методами вспомогательных репродуктивных технологий, эффективность которых остается на сегодняшний день не более 50 %. Особенно важным является поиск новых методик, позволяющих повысить результативность процедур экстракорпорального оплодотворения. В этом направлении крайне интересным является изучение неизвазивных методов оценки имплантационного потенциала эмбрионов. В анализе представлены работы по изучению протеома, метаболома и транскриптома эмбриона. Понимание молекулярного состава культуральных сред, в которых происходило развитие эмбриона до пятых суток культивирования, позволит глубже понять физиологию раннего развития, а также установить неивазивные критерии отбора эмбриона с лучшим имплантационным потенциалом и тем самым повысить эффективность проводимых программ вспомогательных репродуктивных технологий The article analyzes the currently presented invasive and non-invasive methods for studying preimplantation embryos. The efficiency of preimplantation genetic testing of embryos before transfer to the uterine cavity has been shown. Also considered are alternative less invasive options for studying the viability of embryos, which could be markers of successful implantation. The problem of sterile marriage is becoming more and more significant every year. For some married couples, the only possibility of having a child is treatment with methods of assisted reproductive technologies, the effectiveness of which remains at most 50% today. It is especially important to search for new techniques to improve the effectiveness of in vitro fertilization procedures. In this direction, it is extremely interesting to study non-invasive methods for assessing the implantation potential of embryos. The analysis presents works on the study of the proteome, metabolome and transcriptome of the embryo. Understanding the molecular composition of the culture media in which the development of the embryo took place until the fifth day of cultivation will allow a deeper understanding of the physiology of early development and also establish non-invasive criteria for the selection of embryos with the best implantation potential and thereby increase the efficiency of the programs of assisted reproductive technologies

scholarly journals Pre-Implantation Mouse Embryos Cultured In Vitro under Different Oxygen Concentrations Show Altered Ultrastructures

2020 ◽  
Vol 17 (10) ◽  
pp. 3384
Author(s):  
Manuel Belli ◽  
Paolo Rinaudo ◽  
Maria Grazia Palmerini ◽  
Elena Ruggeri ◽  
Sevastiani Antonouli ◽  
...  
Keyword(s):  
Assisted Reproductive Technologies ◽  
Inner Cell Mass ◽  
Culture Media ◽  
Cell Mass ◽  
Reproductive Technologies ◽  
Mouse Embryos ◽  
Human Embryos ◽  
Fertilization In Vitro ◽  
Vitro Fertilization

Assisted Reproductive Technologies routinely utilize different culture media and oxygen (O2) concentrations to culture human embryos. Overall, embryos cultured under physiological O2 tension (5%) have improved development compared to embryos cultured under atmospheric O2 conditions (20%). The mechanisms responsible for this remain unclear. This study aimed to evaluate the effect of physiologic (5%) or atmospheric O2 (20%) tension on the microscopic ultrastructure of pre-implantation mouse embryos using Transmission Electron Microscopy (TEM). Embryos flushed out of the uterus after natural mating were used as the control. For use as the control, 2-cells, 4-cells, morulae, and blastocysts were flushed out of the uterus after natural fertilization. In vitro fertilization (IVF) was performed using potassium simplex optimized medium (KSOM) under different O2 tensions (5% and 20%) until the blastocyst stage. After collection, embryos were subjected to the standard preparative for light microscopy (LM) and TEM. We found that culture in vitro under 5% and 20% O2 results in an increase of vacuolated shaped mitochondria, cytoplasmic vacuolization and presence of multi-vesicular bodies at every embryonic stage. In addition, blastocysts generated by IVF under 5% and 20% O2 showed a lower content of heterochromatin, an interruption of the trophectodermal and inner cell mass cell membranes, an increased density of residual bodies, and high levels of glycogen granules in the cytoplasm. In conclusion, this study suggests that in vitro culture, particularly under atmospheric O2 tension, causes stage-specific changes in preimplantation embryo ultrastructure. In addition, atmospheric (20%) O2 is associated with increased alterations in embryonic ultrastructure; these changes may explain the reduced embryonic development of embryos cultured with 20% O2.

scholarly journals Next-Generation Sequencing Revealed that High Proportion of Human Embryos Resulted from Donor Eggs Are Segmental Chromosome Abnormal

2020 ◽  
Author(s):  
Xiangli Niu ◽  
Yanping Lao ◽  
Yan Sun ◽  
Weihua Wang
Keyword(s):  
Next Generation Sequencing ◽  
Embryo Implantation ◽  
Human Embryos ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Donor Egg ◽  
Donor Eggs ◽  
Generation Sequencing

High proportion of human embryos produced by in vitro fertilization (IVF) are aneuploidy or have segmental chromosomal errors. Not only a whole chromosome aneuploidy, but also small errors in a chromosome, such as microdeletion can be detected by current next-generation sequencing (NGS) for preimplantation genetic testing (PGT). The prevalence of aneuploidy in donor egg IVF was significantly different between fertility clinics. In the present study, we examined whether different embryo biopsy procedures affect embryonic aneuploidies in donor egg IVF. We did not find significant differences in the samples with abnormal chromosomes between two biopsy methods. When we further analyzed the samples with abnormal chromosomes, we found that 64.0–80.7% of the abnormalities were whole chromosome aneuploidies while 19.3–36.0% were segmental chromosome abnormalities. High embryo implantation rates were obtained after transferring screened euploid blastocysts. These results indicate that blastocyst biopsy procedures may not significantly affect embryo’s chromosomal status, but PGT by high-resolution NGS revealed that high proportions of human embryos derived from donor eggs are not only aneuploidy, but also segmental chromosome abnormal, and screening of small chromosomal errors by NGS is beneficial to patients who use donated eggs for infertility treatment.

Blastomere movement correlates with ploidy and mosaicism in early-stage human embryos after in vitro fertilization

Zygote ◽  
2021 ◽  
pp. 1-15
Author(s):  
Xiaodong Zhang ◽  
Jingwei Yang ◽  
Wei Han ◽  
Chong Li ◽  
Guoning Huang
Keyword(s):  
Laser Scanning ◽  
Early Stage ◽  
Screening Method ◽  
Laser Scanning Microscopy ◽  
Confocal Laser ◽  
Human Embryos ◽  
Cell Stage ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization

Summary Embryos undergo chaotic division and decrease in quality on day 3 with a reduction in the rates of subsequent blastocyst formation. Disordered cleavage causes a deterioration in embryonic quality, here we assessed the relationship between an cleavage model in first mitosis and the chromosomal status of human embryos, and discuss the potential biological and clinical implications for the cleavage model as a single parameter that can be used to assess embryonic quality. Thirty-two infertile couples, with normal karyotypes and who underwent their first IVF cycle were recruited to donate one normal two-cell-stage embryo each for this study between 2019 and 2020. Twenty-eight two-cell embryos underwent preimplantation genetic testing of each blastomere, and four chaotic-division embryos were stained with Hoechst and cultured in a confocal laser-scanning microscopy incubator system. This system showed high specificity and PPV but low sensitivity and NPV using the CM in the prediction of euploidy, indicating that CM could be considered a screening method for embryo selection; additional observational studies using the CM to select transferable embryos are needed before it can be used in clinical practice.

scholarly journals Does every family couple that being treated with assisted reproductive technologies need to use preimplantation genetic testing for aneuploidy (PGT-A)?

2019 ◽  
Vol 23 (2) ◽  
pp. 316-320
Author(s):  
O. L. Lyovkina ◽  
S. S. Derii ◽  
Y. R. Kuzmenko
Keyword(s):  
In Vitro Fertilization ◽  
Reproductive Medicine ◽  
Literature Search ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Current Status ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Further Development

The increase in the frequency of using assisted reproductive technologies (ART) dictates the need for pre-implantation diagnosis of embryos to determine which of them are euploid and recommended for embryo transfer (ET), since the main cause of implantation failures when using in vitro fertilization (IVF) is ET aneuploid or mosaic ETs or mosaic imitations that use in vitro fertilization (IVF) is ET aneuploid or mosaic imitative failures when using in vitro fertilization (IVF) is ET aneuploid or mosaic imitations. . For this purpose, the PGT-A technology was created, since the appearance of which and its further development there have been discussions about the feasibility of using PGT-A for each pair, which turned to the use of ART. The purpose of this literature review is to describe the current status of PGT-A and determine the prospects for its widespread adoption in the practice of reproductive medicine. A literature search was carried out in the PubMed and Cochrane databases for the last 10 years. An analysis of the literature has shown that IVF with PGT-A technology has significant advantages over traditional IVF; The technology has a number of technical and financial limitations, which makes it difficult to massively introduce technology into the practice of reproductive medicine, therefore at this stage there should be clear indications for using IVF with PGT-A.

scholarly journals A Non-invasive Chromosome Screening Strategy for Prioritizing in vitro Fertilization Embryos for Implantation

2021 ◽  
Vol 9 ◽  
Author(s):  
Li Chen ◽  
Qin Sun ◽  
Juanjuan Xu ◽  
Haiyan Fu ◽  
Yuxiu Liu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Predictive Value ◽  
Large Scale ◽  
Human Embryos ◽  
Clinical Practices ◽  
Preimplantation Genetic Testing ◽  
Invasive Approach ◽  
Vitro Fertilization ◽  
Non Invasive

Preimplantation genetic testing for aneuploidy (PGT-A) is widely used to select embryos having normal ploidy for transfer, but they require an invasive embryo biopsy procedure that may cause harm to the embryos and offspring. Therefore, a non-invasive approach to select embryos with normal ploidy for implantation is highly demanded. Non-invasive chromosome screening (NICS) methods have been proposed and applied in clinical practices, but a large-scale validation versus invasive preimplantation genetic testing (PGT) and the whole embryo ploidy has not yet been reported. In this study, by using the whole embryo as a gold standard, we validated NICS assay in a total of 265 donated human embryos and compared its performance with conventional trophectoderm (TE) biopsy PGT. The NICS assay showed promising performance, which is comparable to PGT-TE [sensitivity: 87.36 versus 89.66%; specificity: 80.28 versus 82.39%; negative predictive value (NPV): 91.2 versus 92.86%; positive predictive value (PPV): 73.08 versus 75.73%]. Additionally, NICS provides a scoring system for prioritizing embryo: embryos can be categorized into three groups with euploid prediction probabilities of 90.0, 27.8, and 72.2% for group euploid (A), aneuploid (B), and multiple abnormal chromosomes (MAC) (C), respectively. When an addition of TE assay is provided as a secondary validation, the accuracy significantly increases from 72.2 to 84.3% for group B and from 27.8 to 83.3% for group C. Our results suggest that NICS is a good rule in assay for identifying chromosomal normal embryos for transfer and might serve as a non-invasive approach for prioritizing embryos instead of preventing transfer of aneuploid and MAC embryos. It will help to ensure the safety of offspring and efficient utilization of embryos.

The experience of holding the cycles of assisted reproductive technology with defrost, a biopsy, genetic study and refreezing of embryos in patients with multiple unsuccessful implantations

2016 ◽  
pp. 166-170
Author(s):  
Y.V. Masliy ◽  
◽  
I.O. Sudoma ◽  
P.S. Mazur ◽  
D.A. Mykytenko ◽  
...  
Keyword(s):  
Chromosomal Rearrangements ◽  
Genetic Diagnosis ◽  
Morphological Characteristics ◽  
Implantation Rate ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Comparative Genome Hybridization ◽  
Comparative Genome ◽  
Vitro Fertilization

The objective: to study the possibility of using frozen blastocysts for biopsy and genetic testing and performance measurement transfer euploeded 5–7-day-old embryos after thawing, biopsies, refreezing and thawing in patients with unsuccessful implantation. Patients and methods. The object of the study was the group of patients with repeated failure of implantation (4) in programs of auxiliary reproductive technologies (ART), subject to transfer to the uterus in total (i.e. in all the programs) for at least 6 good quality embryos based on morphological characteristics). All women had sufficient ovarian reserve. The patient was treated for infertility within the ART programs of the clinic of reproductive medicine "Nadiya" in the period from 2006 to 2016. The sample included couples who were not carriers of chromosomal rearrangements, without anomalies of the uterus (congenital and acquired: a doubling of the uterus, one-horned uterus, intrauterine membrane, synechia, submucous myoma of the uterus). All women had a positive ovarian response to controlled stimulation with gonadotropins (at least 7 oocytes) and a sufficient number of cryopreserved embryos. The first group (G1) included 64 women who trophectodermal a biopsy was performed on fresh blastocysts (in a loop controlled ovarian hyperstimulation). The second group (G2) were included 31 women who underwent thawing previously cryopreserved blastocysts trophectodermal re-biopsy and vitrification of blastocysts. Results. It was found that the performance of transfers euploid embryos that were vitrified, bioptrone and revitriphted, a little lower than those that were bioptrone fresh and vitrified only once. At the same time computationa genetic diagnosis previously vitrified blastocysts using comparative genome hybridization in patients with recurrent failed implantation allows to obtain a reasonable pregnancy rate (58%), implantation rate (33.3 %) and the birth of living children (45.1 %). Conclusion. Reprising biopropane embryos does not cause significant destructive impact and allows you to achieve pregnancy and birth of the alive child. Key words: in vitro fertilization, reusable unsuccessful implantation, a method of comparative genome hybridization, refreezing.

Thickness of endometrium: predictor of the effectiveness of IVF/ICSI programs (literature review)

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (1) ◽  
pp. 113-116
Author(s):  
L A Bagdasaryan ◽  
I E Korneyeva
Keyword(s):  
Assisted Reproductive Technologies ◽  
Endometrial Thickness ◽  
Molecular Genetic ◽  
Uterine Cavity ◽  
Reproductive Technologies ◽  
Genetic Characteristics ◽  
Vitro Fertilization ◽  
Need To Evaluate ◽  
The Relationship

The aim of the study is to systematically analyze the data available in the modern literature on the relationship between endometrial thickness and the frequency of pregnancy in the program of assisted reproductive technologies (ART). Materials and methods. The review includes data from foreign and domestic articles found in PubMed on this topic. Results. The article presents data on the relationship between the thickness of the endometrium and the frequency of pregnancy in ART programs. The greatest number of studies is devoted to the evaluation of the relationship between the thickness of the endometrium and the frequency of pregnancy on the day of the ovulation trigger. Data are presented on the existence of a correlation between the thickness of the endometrium measured on the day of the ovulation trigger and the frequency of clinical pregnancy, as well as data on the need to evaluate the structure of the endometrium and the state of subendometric blood flow. The importance of multilayered (three-layered) endometrium as a prognostic marker of success in in vitro fertilization/intracytoplasmic sperm injection programs in the ovum is emphasized. The conclusion. The thickness of the endometrium can not be used as an argument for canceling the cycle or abolishing embryo transfer to the uterine cavity. Further studies in this direction are needed with a study of the morphological and molecular genetic characteristics of the endometrium, which in the future will allow us to evaluate the relationship between the thickness of the endometrium and the probability of pregnancy.

Legal restrictions on pre-implantation genetic diagnostics in the framework of in vitro fertilization procedure: foreign experience and Russian perspective

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all
Keyword(s):  
In Vitro Fertilization ◽  
Assisted Reproductive Technologies ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Genetic Diagnostics ◽  
Vitro Fertilization ◽  
Medical Indications

The article discusses the factors that determine the content of the legal limitations of pre-implantation genetic diagnosis in the framework of the in vitro fertilization procedure, taking into account international experience and modern domestic regulatory legal regulation of the field of assisted reproductive technologies. The authors substantiates the conclusion that it is necessary to legislate a list of medical indications for preimplantation genetic diagnosis, as well as the categories of hereditary or other genetic diseases diagnosed in the framework of this procedure.

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