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.

scholarly journals Potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic diseases

1999 ◽  
Vol 5 (6) ◽  
pp. 1134-1139
Author(s):  
M. A. El Hazmi
Keyword(s):  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Disorder ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Potential Usefulness ◽  
Vitro Fertilization ◽  
Polar Bodies ◽  
Control And Prevention

Prenatal diagnosis of molecular mutations can be of immense value, since diagnosis followed by genetic counselling provides the most appropriate approach to genetic diseases control and prevention. However, ethical, psychosocial and religious considerations hamper adoption of prenatal diagnosis in communities where termination of a pregnancy may not be acceptable. Recently, preimplantation genetic diagnosis has attracted considerable interest. This involves in vitro fertilization, followed by genetic disorder diagnosis using polar bodies or cells extracted from a blastomere stage. The normal blastomere is implanted in the womb and pregnancy proceeds naturally. If an abnormality is diagnosed, the blastomere is not implanted, thus preventing pregnancy with the affected fetus. This paper outlines the potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic disease in our part of the world

scholarly journals Is selecting better than modifying? An investigation of arguments against germline gene editing as compared to preimplantation genetic diagnosis

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Alix Lenia v. Hammerstein ◽  
Matthias Eggel ◽  
Nikola Biller-Andorno
Keyword(s):  
Dna Sequences ◽  
Reproductive Medicine ◽  
Gene Editing ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Third Party ◽  
Human Embryos ◽  
Germline Gene ◽  
Future Child ◽  
Selection Of

Abstract Background Recent scientific advances in the field of gene editing have led to a renewed discussion on the moral acceptability of human germline modifications. Gene editing methods can be used on human embryos and gametes in order to change DNA sequences that are associated with diseases. Modifying the human germline, however, is currently illegal in many countries but has been suggested as a ‘last resort’ option in some reports. In contrast, preimplantation genetic (PGD) diagnosis is now a well-established practice within reproductive medicine. Both methods can be used to prevent children from being born with severe genetic diseases. Main text This paper focuses on four moral concerns raised in the debate about germline gene editing (GGE) and applies them to the practice of PGD for comparison: Violation of human dignity, disrespect of the autonomy and the physical integrity of the future child, discrimination of people living with a disability and the fear of slippery slope towards immoral usage of the technology, e.g. designing children for specific third party interests. Our analysis did not reveal any fundamental differences with regard to the four concerns. Conclusion We argue that with regard to the four arguments analyzed in this paper germline gene editing should be considered morally (at least) as acceptable as the selection of genomes on the basis of PGD. However, we also argue that any application of GGE in reproductive medicine should be put on hold until thorough and comprehensive laws have been implemented to prevent the abuse of GGE for non-medical enhancement.

Preimplantation genetic diagnosis

2002 ◽  
Vol 10 (1) ◽  
pp. 3-20
Author(s):  
JDA Delhanty ◽  
JC Harper
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Pregnancy Termination ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Early Embryo ◽  
Knowing That

The aim of preimplantation genetic diagnosis (PGD) is to give couples at risk of passing on a genetic disorder an alternative to standard prenatal diagnosis by enabling them to start a pregnancy that is known to be free of the familial disease. This can be achieved by generating embryos in vitro by standard in vitro fertilization (IVF) techniques and then removing one to two of the cells from the early embryo (embryo biopsy). Single cell polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) can then be used to diagnose single gene defects or chromosomal abnormalities respectively. Those embryos diagnosed as free from disease can then be considered for transfer to the womb and so the pregnancy is started knowing that the fetus is unaffected. This avoids the need to consider pregnancy termination in the quest for a healthy child. Originally it was thought that the major reason for referral would be the risk of passing on a single abnormal gene but an increasing proportion of couples are requesting PGD because of recurrent miscarriage due to parental chromosomal abnormality.

scholarly journals Correlation of the sperm penetration assay (SPA) and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

2011 ◽  
Vol 63 (1) ◽  
pp. 107-116
Author(s):  
Jelena Gradistanac ◽  
Maria Wikarczuk ◽  
S.G. Somkuti ◽  
L.I. Barmat ◽  
Jay Schinfeld ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Sperm Quality ◽  
Genetic Diagnosis ◽  
Fetal Loss ◽  
Vitro Fertilization ◽  
Sperm Penetration ◽  
Sperm Penetration Assay ◽  
New Criterion

We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA) before in vitro fertilization and intracytoplasmic sperm injection (ICSI), to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB). ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

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 Preimplantation genetic diagnosis for cystic fibrosis: a case report

2015 ◽  
Vol 13 (1) ◽  
pp. 110-113 ◽  
Author(s):  
Maria Cristina Santoro Biazotti ◽  
Walter Pinto Junior ◽  
Maria Cecília Romano Maciel de Albuquerque ◽  
Litsuko Shimabukuro Fujihara ◽  
Cláudia Haru Suganuma ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Preimplantation Genetic Diagnosis ◽  
Pancreatic Insufficiency ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Obstructive Azoospermia ◽  
Vitro Fertilization ◽  
Pregnancy And Delivery

Cystic fibrosis is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. This disorder produces a variable phenotype including lung disease, pancreatic insufficiency, and meconium ileus plus bilateral agenesis of the vas deferens causing obstructive azoospermia and male infertility. Preimplantation genetic diagnosis is an alternative that allows identification of embryos affected by this or other genetic diseases. We report a case of couple with cystic fibrosis; the woman had the I148 T mutation and the man had the Delta F508 gene mutation. The couple underwent in vitro fertilization, associated with preimplantation genetic diagnosis, and with subsequent selection of healthy embryos for uterine transfer. The result was an uneventful pregnancy and delivery of a healthy male baby.

scholarly journals The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Danilo Cimadomo ◽  
Antonio Capalbo ◽  
Filippo Maria Ubaldi ◽  
Catello Scarica ◽  
Antonio Palagiano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Negative Impact ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Embryo Biopsy ◽  
Human Embryos ◽  
Developmental Potential ◽  
Monogenic Diseases ◽  
The Impact

Preimplantation Genetic Diagnosis and Screening (PGD/PGS) for monogenic diseases and/or numerical/structural chromosomal abnormalities is a tool for embryo testing aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. A critical aspect of this technology is the potential detrimental effect that the biopsy itself can have upon the embryo. Different embryo biopsy strategies have been proposed. Cleavage stage blastomere biopsy still represents the most commonly used method in Europe nowadays, although this approach has been shown to have a negative impact on embryo viability and implantation potential. Polar body biopsy has been proposed as an alternative to embryo biopsy especially for aneuploidy testing. However, to date no sufficiently powered study has clarified the impact of this procedure on embryo reproductive competence. Blastocyst stage biopsy represents nowadays the safest approach not to impact embryo implantation potential. For this reason, as well as for the evidences of a higher consistency of the molecular analysis when performed on trophectoderm cells, blastocyst biopsy implementation is gradually increasing worldwide. The aim of this review is to present the evidences published to date on the impact of the biopsy at different stages of preimplantation development upon human embryos reproductive potential.

The Emerging Technology and Application of Preimplantation Genetic Diagnosis

1998 ◽  
Vol 26 (1) ◽  
pp. 7-16 ◽  
Author(s):  
Richard J. Tasca ◽  
Michael E. McClure
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Dna Analysis ◽  
Single Gene ◽  
Genetic Diseases ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Chromosome Analysis ◽  
Blastocyst Stage ◽  
Vitro Fertilization

Efforts to improve the means to diagnose and treat human genetic diseases have a long history in biomedical research and medicine. Now, preimplantation genetic diagnosis (PGD) provides a new way to prevent the transmission of certain types of human genetic diseases to the next generation. It is an alternative to elective termination of pregnancies.PGD is used to test for genetic diseases that are due to defective single genes or abnormal chromosomes within days of fertilization and prior to the establishment of pregnancy. The procedure essentially begins with the biopsy of one or more cells of a cleavage stage or blastocyst stage preimplantation human embryo that has been produced by in vitro fertilization (IVF). In certain cases, PGD can be done on polar bodies—discarded by-products of egg formation containing excess chromosomes—of unfertilized eggs. Then, the cell(s), or a polar body, is placed into a tube for single gene analysis (DNA analysis by polymerase chain reaction (PCR)), or for chromosome analysis by spreading the nucleus of the cell on a microscope slide (fluorescence in situ hybridization (FISH)).

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