scholarly journals Preimplantation genetic diagnosis for carriers with chromosomal translocations undergoing assisted reproductive technologies therapy

2014 ◽  
Vol 113 (10) ◽  
pp. 769
Author(s):  
Yung-Hao Ching
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Assisted Reproductive Technologies ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Chromosomal Translocations

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.

Pregnancies Following Preimplantation Genetic Diagnosis of Chromosomal Translocations in Couples with Reduced Fertility

2000 ◽  
Vol 74 (3) ◽  
pp. S114-S115 ◽  
Author(s):  
H Bickerstaff ◽  
C.T Yeong ◽  
P Scriven ◽  
C Mackie Ogilvie ◽  
F O’Mahoney ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Chromosomal Translocations

scholarly journals Embryologist's Job in Assisted Reproductive Technologies and in Vitro Fertilization

2021 ◽  
pp. 108-115
Author(s):  
Harsimrat Kaur ◽  
Ram Dayal ◽  
Kamla Singh
Keyword(s):  
Genetic Screening ◽  
Assisted Reproductive Technologies ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Fertility Treatment ◽  
Medical Professionals ◽  
Vitro Fertilization ◽  
Laboratory Environment ◽  
Reproductive Research

What exactly does an embryologist do? is one of the most common question asked by patients and the possible answer could be that embryologist is the child’s first watchperson. The ability to grow embryos in laboratory environment was a huge scientific achievement. Scientists and Embryologists are involved in reproductive research and fertility treatment. The embryologist has a huge role to play in IVF/ICSI process and the contribution of embryologist is no less than infertility consultant. They might not be doctors, but they are highly trained medical professionals, holding a master’s degree or Ph.D. due to specialized nature of work. They are responsible for management and maintenance of laboratory used in creating embryos as well as monitoring those embryos. The important activities that embryologist does are maintaining the embryology lab (temperature, humidity, CO2 cylinder, diffusion gas and pH), oocyte screening during ovum pickup (OPU), incubation and checking of fertilization, embryo transfer, vitrification and embryo biopsy for pre-implantation genetic screening (PGS) or pre-implantation genetic diagnosis (PGD).

Features of regulatory regulation of genetic research in the framework of prenatal diagnosis in the Russian Federation

2019 ◽  
Author(s):  
M.V. Medvedev , G.N. Suvorov , S.S. Zenin
Keyword(s):  
Assisted Reproductive Technologies ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Legal Regulation ◽  
New Techniques ◽  
Legal Norms ◽  
Molecular Genetic Diagnosis ◽  
The Russian Federation

The formation of new trends in the development of molecular genetic diagnosis has allowed to use this knowledge to identify pathologies of the child's development before his birth at the prenatal level. The use of new assisted reproductive technologies(art), aimed at combating infertility, allows to postpone this period even before the implantation of the embryo of the future mother. The use of new techniques should be carried out only for medical reasons, but the mechanism of their legal regulation has not been formed to date, which may be the basis for the use of genetic research carried out within the framework of art in the context of medical expediency. The above allows us to raise the question of the need to develop special legal norms that allow to solve the problem only from the perspective of modern bioethical ideas, but also from the perspective of the formation of law enforcement practice in this area.

Law in the «Age of Biotechnology» (Legal Regime for Preimplantation Genetic Diagnosis)

2020 ◽  
Vol 7 ◽  
pp. 31-43
Author(s):  
V. V. Lapaeva ◽  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Common Good ◽  
Legal Theory ◽  
Genetic Diagnosis ◽  
Reproductive Technologies ◽  
Theory And Practice ◽  
Human Soul ◽  
Legal Regime ◽  
The Common ◽  
The Moment

The engine of modern biotechnological development is new reproductive technologies, one of the most promising areas of which is preimplantation genetic diagnosis (PGD). The use of this technology in Russia is currently carried out without proper legal support. The main problem in the development of the PGD legal regime is caused by the fact that this technology involves manipulation of the human embryo as a phenomenon with a special ontological status. The Christian-theological tradition, which links the birth of the human soul with the moment of conception, has a significant influence on the bioethical thought, as well as on the corresponding legal theory and practice. However, while considering the need to give a moral and religious assessment to any manipulation of the human's embryo, the development of the PGD legal regime should be based on the law principle of formal equality, according to which human repro ductive rights can be realized to the extent that they do not violate the rights of others and the common good, which is the condition for the human rights.

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