scholarly journals A comparison of NGS and FISH technologies: comprehensive 24-chromosome screening of embryo

1970 ◽  
Vol 21 ◽  
pp. 311-315
Author(s):  
Yu. V. Gontar ◽  
O. Yu. Verlynskyi ◽  
A. Kyrpyi ◽  
I. E. Ylyn ◽  
A. M. Fedota
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Assisted Reproductive Technologies ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
The Other ◽  
Preimplantation Embryos ◽  
Art Programs ◽  
Chromosomal Aneuploidy ◽  
Investigation Methods

Aim. Optimization of the algorithm of complex 24 chromosomes screening in programs of assisted reproductive technologies. Methods. Research of non-disjunction chromosomes in preimplantation embryos based on the results of trophectoderm nucleus diagnostics using FISH and NGS-based CCS. During the preimplantation genetic diagnosis (PGD) on the nucleus by FISH were used probes for chromosomes 13, 16, 18, 21, 22, X, Y. Results. Among the demonstrated cases of embryo diagnosis there was only one embryo that showed a coincidence in the results obtained by different investigation methods. In the other sample, where was diagnosed non-mosaic 18 and 22 monosomy by FISH, the NGS-based CCS showed only monosomy 18. The other embryo had ploidy mosaicism indicated by FISH, but according to NGS results it was evaluated as euploid. Conclusions. Embryos obtained in ART programs must be screened for chromosomal aneuploidy in the preimplantation period to increase the effectiveness in the programs of assisted reproductive technologies, using combination of FISH and NGS methods. Keywords: preimplantation genetic diagnosis, assisted reproductive technologies, aneuploid embryos, NGS, FISH.

Formation of the concept of legal regulation of preimplantation genetic diagnosis in the Russian Federation in the context of ensuring and protecting reproductive freedom of the individual

2020 ◽  
Author(s):  
V.V. Komarova , N.A. Altinnik , G.N. Suvorov
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Russian Federation ◽  
Assisted Reproductive Technologies ◽  
Medical Science ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
Reproductive Freedom ◽  
The Russian Federation ◽  
The Individual

Objectives. The aim of this study is the formation of a concept of preimplantation genetic diagnosis (PGD) in the Russian Federation in the context of ensuring and protecting reproductive freedom of the individual. Material. The regulatory legal acts, the doctrinal sources of the Russian Federation are examined to identify key problems that impede the formation of the desired concept. Methods used: general philosophical, general scientific, private scientific, special (structural-legal, formal-legal). Results. The basic postulates of the concept of legal regulation of PGD in the Russian Federation are substantiated. As part of the analysis of domestic legislation, key problems are identified that impede the formation of the desired concept that meets the level of development of medical science and the needs of consumers of medical services. The conclusion is justified that it is necessary to fix at the legislative level the place of pre-plantation genetic tests in the assisted reproductive technologies system, thus giving PGD independent significance outside the context of the problems of infertility treatment. It has been argued that, in addition to the norms of the basic law on protecting the health of citizens, a separate sub-legislative normative legal act of the Ministry of Health of the Russian Federation should be developed in the system of legal regulation of PGD in Russia, forming a set of mandatory requirements for the PGD procedure, depending on diagnostic goals, as well as determining which methods are preferable depending on the goal and what results the consumer can count on. Conclusions. It is noted that in the system of norms on genetic research, special attention should be paid to genetic counseling, establishing mandatory requirements for the content of the consultation - in relation to PGD, this should include explanations regarding the algorithm and method of the study, the possibilities and limitations of this type of diagnosis for each a particular case, the features of its application to solve a single genetic problem.

scholarly journals Prevalência do Uso de Diagnóstico Genético Pré-Implantação na Unidade Clínica de Paramiloidose do Centro Hospitalar do Porto

2014 ◽  
Vol 27 (6) ◽  
pp. 710 ◽  
Author(s):  
Kátia Valdrez ◽  
Elisabete Alves ◽  
Teresa Coelho ◽  
Susana Silva
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Household Income ◽  
Assisted Reproductive Technologies ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Familial Amyloid Polyneuropathy ◽  
Chi Square ◽  
National Board ◽  
Amyloid Polyneuropathy ◽  
Serious Disease

<strong>Introduction:</strong> The Familial Amyloid Polyneuropathy, with the world’s largest focus in Portugal, is recognized by the National Board of Assisted Reproductive Technologies as a serious disease eligible for Preimplantation Genetic Diagnosis. This study aims to determine the prevalence of the use of Preimplantation Genetic Diagnosis in FAP carriers followed in Unidade Clínica de Paramiloidose, Centro Hospitalar do Porto, and to identify the associated factors.<br /><strong>Material and Methods:</strong> Between January and May 2013, a representative sample of Portuguese Familial Amyloid Polyneuropathy carriers, aged between 18 and 55 years, was systematically recruited. The analysis is based on 111 carriers with previous familial diagnosis, who reported having ever tried to get pregnant after 2001. Data on sociodemographic characteristics and use of Preimplantation Genetic Diagnosis were collected through a self-administered questionnaire. Proportions were compared using the chi-square test. Crude and adjusted odds ratios (OR) and the respective confidence intervals of 95% (95% CI) were estimated using multivariate<br />logistic regression.<br /><strong>Results:</strong> The prevalence of use of Preimplantation Genetic Diagnosis was 20.7% (95% CI: 13.6-29.5). After adjustment, a household income above 1000 €/month (OR = 11.87; 95% CI 2.87-49.15) was directly associated with the use of Preimplantation Genetic Diagnosis, while carriers with an individual diagnosis (OR = 0.15; 95% CI 0.04-0.57) and children born after 2001 (OR = 0.07; 95% CI 0.02-0.32) revealed a prevalence of use significantly lower than those with a individual diagnosis and children born before 2001.<br /><strong>Discussion:</strong> The low prevalence of use of Preimplantation Genetic Diagnosis, as well as the less frequent use of the technique by those with a lower household income, shows the importance of improving access to Preimplantation Genetic Diagnosis in the case of Familial Amyloid Polyneuropathy.<br /><strong>Conclusion:</strong> This work contributes to increase the sensitivity of health professionals around the use and accessibility to Preimplantation Genetic Diagnosis among Familial Amyloid Polyneuropathy carriers.<br /><strong>Keywords:</strong> Preimplantation Diagnosis; Amyloid Neuropathies, Familial; Genetic Testing; Assisted Reproductive Technologies.

scholarly journals Egészséges gyermek születése karyomapping eljárással történő preimplantációs genetikai diagnózist követően

2016 ◽  
Vol 157 (51) ◽  
pp. 2048-2050
Author(s):  
László Nánássy ◽  
Gyöngyvér Téglás ◽  
Marianna Csenki ◽  
Attila Vereczkey
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Assisted Reproductive Technologies ◽  
Single Nucleotide Polymorphism Array ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
A Genome ◽  
Gene Defects

Abstract: Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days. Trophectoderm biopsy and karyomapping analysis were carried out. Result showed a heterozygous carrier for primary congenital glaucoma. Embryo was thawed and transferred and a healthy girl was delivered at term. Here we report the first live birth following in vitro fertilization combined with preimplantation genetic diagnosis using karyomapping in Hungary. Karyomapping is able to accurately detect single gene disorders from a limited amount of samples without a significant preclinical workup. Orv. Hetil., 2016, 157(51), 2048–2050.

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.

scholarly journals Follitropin Delta as a State-of-the-Art Incorporated Companion for Assisted Reproductive Procedures: A Two Year Observational Study

Medicina ◽  
2021 ◽  
Vol 57 (4) ◽  
pp. 379
Author(s):  
Bogdan Doroftei ◽  
Ovidiu-Dumitru Ilie ◽  
Ana-Maria Dabuleanu ◽  
Roxana Diaconu ◽  
Radu Maftei ◽  
...  
Keyword(s):  
Observational Study ◽  
Ovarian Hyperstimulation Syndrome ◽  
Twin Pregnancy ◽  
Assisted Reproductive Technologies ◽  
State Of The Art ◽  
Follicle Stimulating Hormone ◽  
Exact Result ◽  
Reproductive Technologies ◽  
The Other ◽  
Ovarian Hyperstimulation

Background and objectives: The latest reports suggest that follitropin delta is a highly efficient recombinant human follicle-stimulating hormone (r-hFSH) that became a part of the current assisted reproductive technologies (ARTs). Therefore, the present study aims to assess a series of parameters (follicles, oocytes, and embryos) and further by the outcomes in women following the administration of follitropin delta. Materials and methods: This observational study included 205 women. They were aged between 21 and 43 years (mean 33.45) and an anti-Müllerian hormone (AMH) level ranging from 0.11 to 16.00 ng/dL (mean 2.89). Results: In accordance with the established methodology and following the centralization of data, a total of fifty-eight pregnancies (28.29%) were achieved; forty-five (36.88%) were achieved in women under 35 years and thirteen (15.66%) in women above 35 years. These figures are positively correlated with women’s age considering that the number of follicles >18 mm, oocytes fertilized and embryo(s) varies among groups. Regarding the interest parameters, we noted n = 1719 follicles > 18 mm, n = 1279 retrieved oocytes, and n = 677 embryos at day 3. On the other hand, the following figures have been registered in women above 35 years: 814–follicles > 18 mm, 612 oocytes retrieved and 301 embryos at day 3. During this study, we registered only three cases of abortions (n = 1–0.81% in women under 35 years and n = 2–2.40% in women above 35 years). Nine pregnancies (7.37%) were stopped from evolution in females under 35 years, and twelve pregnancies (n = 8–6.55% in women under 35 years, while n = 4 in women above 35 years) were unsuccessful. A twin pregnancy has been confirmed (1.20%) in women above 35 years, six ongoing pregnancies (4.91%) in those under 35 years, and two in both groups (one per group–n = 1–0.81%, and 1.20%–n = 1) in which we did not know the exact result were registered at the end of the established studied interval. However, there were also situations in which the treatment cause an over-reactivity or had no effect; n = 2 were non-responders, and n = 1 exhibited moderate ovarian hyperstimulation syndrome (OHSS). Conclusions: Based on our results, we strongly encourage the use of this recombinant gonadotropin on a much larger scale.

Genetic polymorphisms of reproductive hormones and their receptors in assisted reproduction technology for patients with polycystic ovary syndrome

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yulia A. Koloda ◽  
Yulia V. Denisova ◽  
Natalia M. Podzolkova
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Assisted Reproductive Technologies ◽  
Polycystic Ovary ◽  
Ovarian Response ◽  
Reproductive Technologies ◽  
Reproductive Hormones ◽  
Current Data ◽  
Nucleotide Polymorphisms ◽  
Ovary Syndrome ◽  
Art Programs

Abstract Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies in women of childbearing, which is defined by the accumulation of multiple, small fluid-filled ovarian cysts without the selection of a single dominant follicle. Most PCOS phenotypes are characterized by the absence of spontaneous ovulation, resistance toward ovulation inductors, the production of a large immature oocytes number, and the high prevalence of ovarian hyperstimulation syndrome, resulting in reduced assisted reproductive technologies (ART) programs effectiveness. The review analyses current data about the relationship between polymorphism genotypes of KISS genes, follicle stimulating hormone (FSH), luteinizing hormone (LH), anti-Müllerian hormone (AMH) and their receptors genes, gonadotropin-releasing hormone (GnRH), estrogen, and progesterone receptors genes, the PCOS risk and the features of ovarian response to stimulation during ART cycles. The use of single nucleotide polymorphisms (SNPs) as prognostic markers of ART programs outcomes would provide a personalized approach to the drugs and doses choice for ovarian stimulation and significantly increase the chance of pregnancy.

The birth of a healthy child in the assisted reproductive technologies program after autologous co-culture of embryo with cumulus cells and a new CAT transfer technology. Case report

GYNECOLOGY ◽  
2021 ◽  
Vol 23 (3) ◽  
pp. 270-274
Author(s):  
Gunai R. Asfarova ◽  
Veronika I. Smol'nikova ◽  
Natalia P. Makarova ◽  
Iuliia S. Drapkina ◽  
Anastasiia P. Sysoeva ◽  
...  
Keyword(s):  
Embryo Transfer ◽  
Healthy Child ◽  
Assisted Reproductive Technologies ◽  
Cumulus Cells ◽  
Reproductive Technologies ◽  
Biologically Active ◽  
Human Embryos ◽  
Implantation Failure ◽  
Recurrent Implantation Failure ◽  
Art Programs

Cumulus cells are essential during oocytes growth and development, as well as during their maturation and fertilization. Research results have shown that embryo co-cultivation with autologous cumulus cells increases the frequency of blastocyst formation, and also improves the effectiveness of ART programs. Embryo transfer in such programs is recommended to be carried out using the CAT technology (Cumulus-Aided embryo Transfer), which includes embryo cultivation on a layer of cumulus cells and embryo transfer with a certain amount of diluted cumulus cells. Patient G., 38 years old, came to the department with infertility for 15 years and recurrent implantation failure in history. The patient had ART program with autologous co-cultivation of embryos with cumulus cells and a new CAT transfer technology. The patient fell pregnant and gave birth to a healthy child. Autologous cumulus cells can be a source of biologically active substances and improve embryological parameters and implantation rate in ART programs. Embryo co-cultivation with cumulus cells is especially important for patients with recurrent implantation failure. This technique can become an alternative for optimizing human embryos culturing.

scholarly journals INFLUENCE ON THE OUTCOME OF ART PROGRAMS OF FROZEN-THAWED BLASTOCYSTS EXPANDED ON FIVE OR SIX DAY

2021 ◽  
pp. 68-75
Author(s):  
A.O. Polumiskova ◽  
S.I. Tevkin ◽  
T.M. Jussubaliyeva ◽  
M.S. Shishimorova
Keyword(s):  
Pregnancy Rate ◽  
Assisted Reproductive Technologies ◽  
Reproductive Technologies ◽  
Clinical Pregnancy ◽  
Clinical Pregnancy Rate ◽  
Miscarriage Rate ◽  
Art Programs ◽  
Group A ◽  
The Difference ◽  
Group B

In order to increase the effectiveness of assisted reproductive technologies (ART) programs, it is essential to improve and develop conditions of embryo culture prior its transfer or cryopreservation of expanded blastocysts on the day 5 or 6. The aim of the study was to assess the effect of human blastocysts’ expansion timing on clinical pregnancy rate (CPR), miscarriage rate (MR) and take-home baby rate (THBR) in frozen-thawed cycles during ART programs. The study involved 2275 frozen embryo transfers (FET) of blastocysts expanded on the day 5 (group A) and 170 FET of blastocysts expanded on the day 6 (group B). The pregnancy rates in both groups were 50.8% and 46.5% respectively. There were no statistically significant differences in clinical pregnancy rate 37.4% and 37.0%, miscarriage rate 26.0% and 21.5% in both groups, respectively. THBR, as the main indicator of efficiency in the programs with transfer of post thawed expanded blastocysts on the day 5 (group A) or 6 (group B) were 36.5% and 35.2%, respectively (the difference is insignificant). In conclusion, in cryoprotocols the day of blastocyst expansion (day 5 or 6 of development) does not statistically affect PR, MR and THBR. In FET programs the quality of blastocyst (excellent and good) should be prioritized regardless of the day of cryopreservation.

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