scholarly journals La diagnosi pre-impiantatoria Lo stato dell’arte scientifico e gli interrogativi etici - Parte II

2007 ◽  
Vol 56 (4) ◽  
Author(s):  
Jacques Suaudeau
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Point Of View ◽  
Human Embryos ◽  
False Negatives ◽  
Screening Process ◽  
Reproductive Techniques ◽  
Artificial Fertilization ◽  
Early Human

La diagnosi genetica pre-impiantatoria (Preimplantation genetic diagnosis o PGD) è una tecnica nella quale gli embrioni umani prodotti in vitro per realizzare le tecniche di fecondazione artificiale, vengono selezionati, dal punto di vista genetico, tramite lo studio di uno o di due blastomeri prelevati con una biopsia. Dai reports relativi all’uso della PGD emergono tre punti critici: il primo riguarda le conseguenze della biopsia sullo sviluppo dell’embrione; il secondo la notevole perdita di embrioni nel processo; il terzo l’esattezza diagnostica, con la presenza di falsi positivi e falsi negativi. Oltre al fatto che la PGD è legata alle tecniche di fecondazione artificiale, e, in particolare, alla ICSI, da un punto di vista etico l’obiezione di fondo è che tale pratica si basa su una scarsa considerazione del valore dell’embrione umano. L’aumento della pratica della PGD e l’estensione delle sue indicazioni a casi sempre meno gravi e meno giustificabili dal punto di vista medico è preoccupante. ---------- Preimplantation genetic diagnosis (PGD) is a technique in which early human embryos, obtained in vitro to realize artificial fertilization techniques, are genetically screened for selection, through the study of one or two blastomeres taken by biopsy. Reports on the use of PGD in the world make clear that there are three critical points in it: first regards with consequences of biopsy on developing embryo; second in consideration of the important loss of human embryos in the screening process; third related to inaccuracy of diagnosis, with the presence of false positives and false negatives. Besides the fact that PGD is relate to artificial reproductive techniques, generally to ICSI, the basic ethical objection is based on an undervaluation of the value of human embryos. From a medical point of view the increasing use of PGD and the extension of its indications to cases always more futile and less justified is preoccupying.

scholarly journals Preimplantation genetic diagnosis (testing) for monogenic disorders: indications and ethics

2019 ◽  
pp. 13-25
Author(s):  
Е.В. Соловьёва ◽  
Л.П. Назаренко ◽  
Л.И. Минайчева ◽  
А.В. Светлаков
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Severe Form ◽  
Human Embryos ◽  
Vitro Fertilization ◽  
Monogenic Disorders ◽  
Hereditary Disorders ◽  
Standard Regulation

Преимплантационная генетическая диагностика (тестирование) (ПГД/ПГТ) моногенных заболеваний направлена преимущественно на предотвращение рождения ребенка с наследственным заболеванием посредством обследования эмбрионов до имплантации в лечебном цикле ЭКО (экстракорпорального оплодотворения). Строгим показанием для ПГД генной болезни служит высокий риск рождения ребенка с тяжелой формой многогенного заболевания при отсутствии противопоказаний и ограничений. С расширением показаний для ПГД и возможностей генетического тестирования возникают вопросы по нормативному регулированию и этической ответственности врача при проведении процедуры. Этические вопросы возникают, когда генетический риск ниже показателя, расцениваемого как высокий, заболевание не может быть однозначно отнесено к тяжелым, а также при рассмотрении возможности переноса аномального эмбриона. Этические аспекты ПГД рассмотрены с точки зрения базовых этических принципов: пользы и непричинения вреда, автономии, справедливости. В сравнении с пренатальной диагностикой, реализация этих принципов при ПГД сталкивается с рядом дополнительных сложных вопросов. Ценность эмбрионов человека, вероятность оставить супружескую пару без детей должны соотноситься с действительным риском и тяжестью возможного заболевания. Preimplantation genetic diagnosis/testing (PGD/PGT) for monogenic disorders is directed on prevention of the birth of the child with a hereditary disorders by means of testing embryos before implantation in IVF (in vitro fertilization). The high risk of severe form of a single gene disease is a strict medical indication for PGD for monogenic disorders at condition of contraindications and restrictions lack. Extension of PGD indications and genetic testing opportunities raises questions on standard regulation and ethical responsibility. Ethical questions are happening if a genetic risk is lower than the «high» or the disease cannot be classified as serious and if abnormal embryo transfer is proposed. Ethical aspects of PGD are considered in terms of basic ethical principles: beneficence, non-maleficence, autonomy and justice. In comparison with prenatal diagnostics, realization of these principles at PGD faces a number of additional difficult questions. The value of the human embryos and probability to have no children has to correspond to the valid risk and severity of a possible disease.

scholarly journals La diagnosi pre-impiantatoria Lo stato dell’arte scientifico e gli interrogativi etici - Parte I

2007 ◽  
Vol 56 (3) ◽  
Author(s):  
Jacques Suaudeau
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Late Onset ◽  
Genetic Diseases ◽  
Genetic Defect ◽  
Genetic Diagnosis ◽  
Human Embryos ◽  
The Social ◽  
Selection Of

La diagnosi genetica pre-impiantatoria (Preimplantation genetic diagnosis o PGD) è una tecnica nella quale gli embrioni umani prodotti in vitro per le tecniche di fecondazione artificiale, vengono selezionati, nelle prime fasi di sviluppo, dal punto di vista genetico, tramite lo studio di uno o due blastomeri prelevati con una biopsia. Gli embrioni non affetti da malattie vengono poi trasferiti nell’utero. La PGD è stata introdotta agli inizi degli anni ’90 in alternativa alla diagnosi prenatale per coppie per le quali fosse alto il rischio di trasmettere un difetto genetico. Negli anni successivi è stata adoperata per altre indicazioni come l’individuazione delle anomalie cromosomiche, la ricerca delle aneuploidie, la selezione “sociale” del sesso, la selezione degli embrioni secondo il tipo di Human Leukocit Antigen (HLA) e l’individuazione di malattie genetiche ad esordio tardivo. Dai reports relativi all’uso della PGD nel mondo emergono, tuttavia, tre punti critici: il primo riguarda l’esattezza diagnostica, con la presenza di falsi positivi e falsi negativi; la seconda, la notevole perdita di embrioni umani nel processo; la terza, i risultati della PGD in termini di nascita di bambini sani. ---------- The preimplantation genetic diagnosis (PGD) is a technique in which early human embryos, obtained in vitro for artificial fertilization techniques, are genetically screened for selection, through study of one or two blastomeres taken by biopsy. The embryos, that are healthy, are transferred to uterus. The PGD has been introduced in the early 1990s as an alternative to prenata1 diagnosis for couples at high risk of transmitting a genetic defect. It has been subsequently extended to other indications as the individualization of chromosomal abnormalities, the research of the aneuploidies, the “social selection of sex”, the selection of the embryos according to the type of Human Leukocit Antigen (HLA) and the individualization of late-onset genetic diseases. But the reports concerning with the use of PGD in the world make clear that there are three critical points: the first deals with the diagnostic accuracy, with the presence of false positives and false negatives; the second, with the wide loss of embryos during the process; the third, with the outcomes of the PGD in terms of birth of healthy babies.

Problems and prerequisites for determining the legal regime preimplantation genetic diagnosis in Russian legislation

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all ,
Keyword(s):  
In Vitro Fertilization ◽  
Preimplantation Genetic Diagnosis ◽  
Human Embryo ◽  
Legal Status ◽  
Genetic Diagnosis ◽  
Legal Regime ◽  
Vitro Fertilization

Сurrent problems and prerequisites for the formation of the legal regime of pre-implantation genetic diagnosis (PGD) are considered in Russian legislation with account the existing approaches to determining the legal status of a “pre-implantation” embryo obtained in the framework of the in vitro fertilization procedure (IVF) are discussed. The authors substantiates the conclusion that it is necessary to legally determine PGD as one of the stages of using IVF, as well as establishing generally binding requirements for the procedure, conditions and features of this diagnosis, taking into account the need to minimize the damage caused to the human embryo.

Preimplantation Genetic Diagnosis in Patients Undergoing In Vitro Maturation (IVM) Cycles

2005 ◽  
Vol 84 ◽  
pp. S332-S333
Author(s):  
A. Ao ◽  
D. Kong ◽  
S. Jin ◽  
N. Dean ◽  
R. Chian ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
In Vitro Maturation ◽  
Genetic Diagnosis

scholarly journals Protocol for controlled modeling of human epiblast and amnion development using stem cells

2019 ◽  
Author(s):  
Yi Zheng ◽  
Jianping Fu
Keyword(s):  
Stem Cells ◽  
Primordial Germ Cells ◽  
Primitive Streak ◽  
Human Embryos ◽  
Vitro Fertilization ◽  
Human Embryology ◽  
Post Implantation ◽  
Advance Knowledge ◽  
Early Human

Abstract Due to the inaccessibility of post-implantation human embryos and the restriction on in-vitro fertilization (IVF) embryos cultured beyond 14 days, the knowledge of early post-implantation human embryogenesis remains extremely limited. Recently, we have developed a microfluidic in-vitro platform, based on human pluripotent stem cells (hPSCs), which is capable of recapitulating several key developmental landmarks of early human post-implantation embryonic development, including lumenogenesis of the epiblast (EPI), amniogenesis, and specification of primordial germ cells (PGCs) and of primitive streak (PS) cells. Given its controllability and reproducibility, the microfluidic platform provides a powerful experimental platform to advance knowledge of human embryology and reproduction. This protocol describes the preparation of the microfluidic device and its implementation for modeling human post-implantation epiblast and amnion development using hPSCs.

scholarly journals élethez való jog néhány jogelméleti kérdéséről

2013 ◽  
Vol 10 (1) ◽  
pp. 65-73
Author(s):  
Judit Vörös
Keyword(s):  
Case Law ◽  
Point Of View ◽  
In Vitro Fertilisation ◽  
Human Embryos ◽  
Constitutional Court ◽  
Right To Life ◽  
The Subject ◽  
The Right

Nowadays in vitro fertilisation raises relevant controversies at the point of view of jurisprudence as well. The distinct approximations of in vitro embryos, such as to be considered as personae or objects, are also resources of several theoretical and pragmatical questions. It is essential to give a compendious summary about what kind of jurisprudental environment had been contributed to the intrumental comprehension of human embryos too, otherwise it is difficult to understand the scientific quandaries connected to the subject correctly. Merely thereafter the international and the Hungarian regulation of in vitro embryo’s status seems to able to be dissected, in particular the case-law of the Hungarian Constitutional Court related to the right to life and the constitutional funds of the oncurrent re-regulation in our country.

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