scholarly journals Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel María Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Beatriz Sánchez ◽  
Jordi Guardiola ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Hla Typing ◽  
University Hospital ◽  
Haematopoietic Stem Cell ◽  
Tissue Type ◽  
Hla Matching ◽  
The University ◽  
Clinical Overview

Preimplantation genetic diagnosis (PGD) of genetic diseases, combined with HLA matching (PGD-HLA), is an option for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here we present the results of our PGD-HLA program at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. Seven couples have participated in our program because of different indications. Overall, 26 cycles were performed, providing a total of 202 embryos. A conclusive molecular diagnosis and HLA-typing could be assured in 96% of the embryos. The percentage of transfers per cycle was 26.9% and the birth rate per cycle was 7.7% per transfer. Our PGD-HLA program resulted in the birth of 2 healthy babies, HLA-identical to their affected siblings, with successful subsequent haematopoietic stem cell (HSC) transplantations. Both HSC-transplanted children are currently doing well 48 and 21 months following transplantation, respectively. All the procedures, including HSCs umbilical cord transplantation, were performed in our hospital.

scholarly journals Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Beatriz Sánchez ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Hemophilia A ◽  
Methodological Approach ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Methodological Approaches ◽  
The University ◽  
Clinical Overview ◽  
Selection Of

Hemophilia A and B are the most common hereditary hemorrhagic disorders, with an X-linked mode of inheritance. Reproductive options for the families affected with hemophilia, aiming at the prevention of the birth of children with severe coagulation disorders, include preimplantation genetic diagnosis (PGD). Here we present the results of our PGD Program applied to hemophilia, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 34 couples have been included in our program since 2005 (30 for hemophilia A and 4 for hemophilia B). Overall, 60 cycles were performed, providing a total of 508 embryos. The overall percentage of transfers per cycle was 81.7% and the live birth rate per cycle ranged from 10.3 to 24.1% depending on the methodological approach applied. Although PGD for hemophilia can be focused on gender selection of female embryos, our results demonstrate that methodological approaches that allow the diagnosis of the hemophilia status of every embryo have notorious advantages. Our PGD Program resulted in the birth of 12 healthy babies for 10 out of the 34 couples (29.4%), constituting a relevant achievement for the Spanish Public Health System within the field of haematological disorders.

scholarly journals Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Beatriz Sánchez ◽  
Juan Carlos García-Lozano ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Birth Rate ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
Live Birth Rate ◽  
University Hospital ◽  
Mental Impairment ◽  
High Prevalence ◽  
The University

Fragile X syndrome (FXS) accounts for about one-half of cases of X-linked intellectual disability and is the most common monogenic cause of mental impairment. Reproductive options for the FXS carriers include preimplantation genetic diagnosis (PGD). However, this strategy is considered by some centers as wasteful owing to the high prevalence of premature ovarian failure in FXS carriers and the difficulties in genetic diagnosis of the embryos. Here we present the results of our PGD Program applied to FXS, at the Department of Genetics, Reproduction and Fetal Medicine of the University Hospital Virgen del Rocío in Seville. A total of 11 couples have participated in our PGD Program for FXS since 2010. Overall, 15 cycles were performed, providing a total of 43 embryos. The overall percentage of transfers per cycle was 46.67% and the live birth rate per cycle was 13.33%. As expected, these percentages are considerably lower than the ones obtained in PGD for other pathologies. Our program resulted in the birth of 3 unaffected babies of FXS for 2 of the 11 couples (18.2%) supporting that, despite the important drawbacks of PGD for FXS, efforts should be devoted in offering this reproductive option to the affected families.

scholarly journals Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of -Thalassemia

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Raquel M. Fernández ◽  
Ana Peciña ◽  
Maria Dolores Lozano-Arana ◽  
Juan Carlos García-Lozano ◽  
Salud Borrego ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Hla Typing ◽  
Tissue Type ◽  
Hla Matching ◽  
Single Gene Disorders ◽  
One Step ◽  
Pcr Method ◽  
Genotype A

Preimplantation genetic diagnosis (PGD) of single gene disorders, combined with HLA matching (PGD-HLA), has emerged as a tool for couples at risk of transmitting a genetic disease to select unaffected embryos of an HLA tissue type compatible with that of an existing affected child. Here, we present a novel one-step multiplex PCR to genotype a spectrum of STRs to simultaneously perform HLA typing and PGD for -thalassemia. This method is being routinely used for PGD-HLA cycles in our department, with a genotyping success rate of 100%. As an example, we present the first successful PGD-HLA typing in Spain, which resulted in the birth of a boy and subsequent successful HSC transplantation to his affected brother, who is doing well 4 years following transplantation. The advantage of our method is that it involves only a round of single PCR for multiple markers amplification (up to 10 markers within theHLAand 6 markers at the-globinloci). This strategy has allowed us to considerably reduce the optimization of the PCR method for each specific PGD-HLA family as well as the time to obtain molecular results in each cycle.

scholarly journals Preimplantation Genetic Diagnosis—An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Success Rates ◽  
Aneuploidy Screening ◽  
Reciprocal Translocations ◽  
Public Controversy ◽  
Polar Bodies ◽  
Monogenic Diseases

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye.

scholarly journals Opinions of nurses regarding conscientious objection

2017 ◽  
Vol 26 (4) ◽  
pp. 1027-1038 ◽  
Author(s):  
Rafael Toro-Flores ◽  
Pilar Bravo-Agüi ◽  
María Victoria Catalán-Gómez ◽  
Marisa González-Hernando ◽  
María Jesús Guijarro-Cenisergue ◽  
...  
Keyword(s):  
Religious Beliefs ◽  
Genetic Diagnosis ◽  
Conscientious Objection ◽  
University Hospital ◽  
Blood Transfusions ◽  
Autonomous Community ◽  
Clinical Relationship ◽  
Religious Reasons ◽  
The University ◽  
To Receive

Background: In the last decades, there have been important developments in the scientific and technological areas of healthcare. On certain occasions this provokes conflict between the patients' rights and the values of healthcare professionals which brings about, within this clinical relationship, the problem of conscientious objection. Aims: To learn the opinions that the Nurses of the Madrid Autonomous Community have regarding conscientious objection. Research design: Cross-cutting descriptive study. Participants and research context: The nurses of 9 hospitals and 12 Health Centers in the Madrid Autonomous Community. The study was done by means of an auto completed anonymous questionnaire. The variables studied were social-demographical and their opinions about conscientious objections. Ethical considerations: The study was approved by the Ethical Community of Clinical Research of the University Hospital Príncipe de Asturias. Participants were assured of maximum confidentiality and anonymity. Findings: A total of 421 nurses answered the questionnaire. In total, 55.6% of the nurses confirmed they were religious believers, and 64.3% declared having poor knowledge regarding conscientious objection. The matters that caused the greatest objections were voluntary abortions, genetic embryo selection, refusal of blood transfusions, and therapy refusal. Discussion: Different authors state that the most significant cases of conscientious objections for health professionals are those regarding carrying out or assisting in abortions, euthanasia, the practice of assisted reproduction and, finally, the prescription and dispensing of the morning-after pill. In our study, the most significant cases in which the nurses would declare conscientious objections would be the refusal to accept treatment, the selection of embryos after genetic diagnosis preimplantation, the patient’s refusal to receive blood transfusions due to religious reasons and pregnant women’s request for voluntary abortions within the first 14 weeks. Conclusion: Nurses’ religious beliefs influence their opinions regarding conscientious objection. The nurses who declare themselves as religious believers object in a higher percentage than those without religious beliefs.

Sex Selection by Preimplantation Genetic Diagnosis (PGD) for Nonmedical Reasons in Contemporary Israeli Regulations

2008 ◽  
Vol 17 (3) ◽  
pp. 293-299 ◽  
Author(s):  
RICHARD V. GRAZI ◽  
JOEL B. WOLOWELSKY ◽  
DAVID J. KRIEGER
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
The United States ◽  
Sex Selection ◽  
Gender Ratio ◽  
Recent Developments ◽  
American Law ◽  
Selection For ◽  
American Society

We report here on recent developments in Israel on the issue of sex selection for nonmedical reasons by preimplantation genetic diagnosis (PGD). Sex selection for medical reasons (such as in cases of sex-linked genetic diseases) is generally viewed as uncontroversial and legal in European and American law. Its use for nonmedical reasons (like “balancing” the gender ratio in a family) is generally illegal in European countries. In the United States, it is not illegal, although in the opinion of the Ethics Committee of the American Society for Reproductive Medicine (ASRM), it is problematic. This position is undergoing reconsideration, albeit in a limited way.

Preimplantation genetic diagnosis for HLA typing in a case of X-linked chronic granulomatous disease

2012 ◽  
Vol 91 (7) ◽  
pp. 876-878 ◽  
Author(s):  
BIRTE DEGN ◽  
JOHNNY HINDKJAER ◽  
METTE WULFF CHRISTENSEN ◽  
TANJA ØSTERLUND MORTENSEN ◽  
HANS JAKOB INGERSLEV
Keyword(s):  
Chronic Granulomatous Disease ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Hla Typing ◽  
Granulomatous Disease
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