https://doi.org/10.4081/mem.2007.317

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

V. 56 N. 3 (2007)
Pubblicato: giugno 30, 2007
Diagnosi genetica preimpiantatoria, malattie genetiche, embrione / Preimplantation genetic diagnosis, genetic diseases, embryo
Abstract Views: 480
PDF: 5
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Autori

Jacques Suaudeau
jsuaudeau@acdlife.va
MD, Lic. Theol., Officiale della Pontificia Accademia per la Vita, Italy.
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.

Dimensions

Altmetric

PlumX Metrics

Downloads

I dati di download non sono ancora disponibili.

Citations

Crossref
Scopus
Google Scholar
Europe PMC

Come citare

Suaudeau, J. (2007). La diagnosi pre-impiantatoria Lo stato dell’arte scientifico e gli interrogativi etici - Parte I. Medicina E Morale, 56(3). https://doi.org/10.4081/mem.2007.317

PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.

An Open Access Publication is one that meets the following two conditions:

  1. the author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.
  2. a complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.

Authors who publish with this journal agree to the following terms:

  1. Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
  2. Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  3. Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.