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 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 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.

198 Comparison of invitro production of bison and cattle embryos and effect of L-carnitine during maturation of bison oocytes

2020 ◽  
Vol 32 (2) ◽  
pp. 227
Author(s):  
A. R. Moawad ◽  
H. Benham ◽  
J. P. Barfield
Keyword(s):  
Assisted Reproductive Technologies ◽  
Cell Mass ◽  
Reproductive Technologies ◽  
T Test ◽  
Control Group ◽  
Chi Square ◽  
Important Species ◽  
Developmental Potential ◽  
Cell Numbers ◽  
Frozen Semen

Bison are an important species in North America, both economically and culturally. Although assisted reproductive technologies have been applied to preserve the genetic diversity of bison, development of these technologies remains limited for this species. The objective of the present study was to compare success rates of oocyte maturation, fertilization, and embryo development invitro in bison versus cattle (experiment 1). Cumulus-oocyte complexes obtained from abattoir-derived cattle and bison ovaries were matured, fertilized with frozen semen, and cultured invitro using standard procedures (De La Torre-Sanchez et al. 2006 Reprod. Fertil. Dev. 18, 585-596). At least three replicates were repeated for each experimental group. Oocyte recovery rate was lower in bison than in cattle (4.3; 2797/699 vs. 6.7; 4138/677, oocyte/ovary; P&lt;0.01, t-test). Nuclear maturation (oocytes at MII, 23h post-IVM) and fertilization rates (oocytes with 2 pronuclei 18h post-insemination; p.i.) evaluated by Hoechst stain were lower (P&lt;0.01, chi-square) for bison (65.1%; 56/86 and 32.7%; 18/55, respectively) than for cattle (88.3%; 83/94 and 70.9%; 39/55, respectively). Polyspermy tended to be higher in bison than in cattle (12.7% vs. 3.6%, P=0.08). The percentages of 2-cell embryos tended to be lower in bison than in cattle (13.5% vs. 25.0%, P&gt;0.05) at 24h p.i. but by 30h p.i., this difference increased (33.7% vs. 67.0%, P&lt;0.01, chi-square). Cleavage (Day 3) and blastocyst (Day 7) rates were lower (P&lt;0.01, chi-square) for bison (58.2%; 280/481 and 14.6%; 70/481, respectively) than for cattle (90.8%; 405/446 and 22.9%; 102/446, respectively). Total cell number (74.9±4.8 vs.114.2±5.8), trophectoderm cell numbers (57.9±4.6 vs. 89.2±4.8) and inner cell mass cell numbers (16.9±2.3 vs. 25±1.9) as determined by Hoechst and propidium iodide were all lower (P&lt;0.01, t-test) in bison than in cattle blastocysts. To improve oocyte competence in bison, we evaluated effects of L-carnitine (LC) supplementation during IVM on developmental potential of bison oocytes (experiment 2). Cumulus-oocyte complexes were matured in IVM medium supplemented with 0, 0.15, 0.3, 0.6, or 1.2mgmL−1 LC. No differences were observed in cleavage rates of control (0mgmL−1 LC) and LC-treated groups (values ranged from 60.0 to 66.4%). Interestingly, a dose-dependent increase in blastocyst development was found with the lowest value recorded in control group (10.4%; 14/134) and the highest value in the 1.2mgmL−1 LC supplemented group (22.2%; 23/105; P&lt;0.01, chi-square, n=4). Adding 1.2mgmL−1 LC to the IVM medium improved the percentage of hatching blastocysts compared with the control. In conclusion, bison oocytes exhibited lower invitro maturation, fertilization, and developmental rates compared with cattle oocytes using our system, and bison embryos were delayed in the timing of first cleavage. L-Carnitine supplementation during IVM of bison oocytes improved the preimplantation development and quality of invitro-produced blastocysts.

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