Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review

2002 ◽  
Vol 22 (6) ◽  
pp. 512-518 ◽  
Author(s):  
Leeanda Wilton
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Human Embryos ◽  
Aneuploidy Screening ◽  
Early Human

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—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 Ethical Problems with the Preimplantation Genetic Diagnosis of Human Embryos

2018 ◽  
Vol 24 (1) ◽  
pp. 75-83
Author(s):  
José Tomás Alvarado Marambio ◽  
Manuel J. Santos Alcántara
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Human Embryos ◽  
Ethical Problems
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