Preimplantation genetic diagnosis (PGD): perspectives of patients with high risk of transmitting genetic disorders

2008 ◽  
Vol 90 ◽  
pp. S296
Author(s):  
A.M. Musters ◽  
M. Twisk ◽  
M. Goddijn ◽  
C. Oosterwijk ◽  
S. Repping ◽  
...  
2004 ◽  
Vol 1 (3) ◽  
Author(s):  
Mariko Nishizawa

AbstractBecause of the rapid advances currently taking place in reproductive technology, Japan is being pressed to adjust its conventional approach to reproductive medicine. One example of the innovations in the technology is the reproductive technique known as preimplantation genetic diagnosis, or PGD (PGD is seen by some as a reproductive technique that can help couples who are at high risk of passing on serious genetic disorders to their offspring. However, it is a contested technology. Concerns are increasingly being raised about the lack of sufficient public debate and policy discussion concerning the test's ethical and social implications. The need for policy discussions and a comprehensive legal system to control all areas of reproductive medicine, including PGD, should be more widely addressed.


2018 ◽  
Vol 36 ◽  
pp. e36
Author(s):  
Anna Orlova ◽  
Yana Sofronova ◽  
Svetlana Zhikrivetskaya ◽  
Ekaterina Pomerantseva

Author(s):  
M.A. Borodina , N.A. Altinnik , S.S. Zenin et all

Objectives. The aim of this study is to find the most optimal model for providing access to preimplantation genetic diagnosis (PGD) based on generalization and study for existing foreign experience using countries that widely practice this type of diagnosis and have significant clinical experience and have passed the time-tested regulatory framework. Material. The legal acts and doctrinal sources of Austria, Belgium, Great Britain, Germany, Israel, Canada, France, Switzerland, and Japan are studied. Methods used: general philosophical, general scientific, private scientific, special (structural-legal, comparative-legal, formal-legal). Results. The advantages and disadvantages of each of the models of legal regulation of PGD (the medical model, the high-risk model and the model of non-interference) are evaluated, the conclusion is substantiated that it is advisable to build on the combination of these to determine the legal grounds for conducting PGD in the Russian Federation. Conclusions. It has been established that it is advisable to introduce elements of the medical model through the legal definition of lists of monogenic diseases and chromosomal abnormalities that are the basis for PGD, which will eliminate legal uncertainties in understanding and regulating this procedure and provide access to this type of diagnosis within the framework of IVF programs financed from funds Compulsory medical insurance. The implementation of elements of a high-risk model is proposed in conjunction with mechanisms for authorizing PGD for special cases, including the assessment of additional risks in the presence of a major serious genetic disease or indications for determining the risks of aneuploidy. It has been argued that a variable assessment of the conditions for conducting PGD should be provided normatively and include the possibility of proactively authorizing this type of diagnosis at the expense of patients for gene mutations with a relatively low risk of transmission, diseases with incomplete penetrance, and treatable genetic diseases (including, for example, cancer breast and ovarian cancer, some cardiogenetic disorders), etc.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Valentina Corda ◽  
Federica Murgia ◽  
Francesca Dessolis ◽  
Stefania Murru ◽  
Frank A Chervenak ◽  
...  

Abstract Thalassemias are among the most frequent genetic disorders worldwide. They are an important social and economic strain in high-risk populations. The benefit of β-thalassemia screening programs is growing evident but the capacity to diagnose fetal β-thalassemia exceeds the treatment possibilities and even when treatment before birth becomes feasible, difficult decisions about the relative risks will remain. This paper can be of practical and ethically justified aid when counseling women about screening, diagnosis, and treatment of β-thalassemia. It takes in consideration various social challenges, medical issues such as antenatal screening, preimplantation genetic diagnosis, prenatal diagnosis, non-invasive prenatal testing and prenatal therapy. We also describe the Sardinian experience in applying and promoting high-risk population screening and diagnosis programs and future trends in the management of β-thalassemia.


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