ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening

Abstract

In 2005, the European Society for Human Reproduction and Embryology (ESHRE) PGD Consortium published a set of Guidelines for Best Practice PGD to give information, support and guidance to potential, existing and fledgling PGD programmes. Subsequent years have seen the introduction of new technologies as well as the evolution of current techniques. Additionally, in light of recent advice from ESHRE on how practice guidelines should be written/formulated, the Consortium believed it was timely to update the PGD guidelines. Rather than one document that covers all of PGD, the new guidelines are separated into four documents, including one relating to organization of the PGD centre and three relating to the methods used: DNA amplification, fluorescence in situ hybridization and biopsy/embryology. Here, we have updated the sections on organization of the PGD centre. One area that has continued to expand is Transport PGD, in which patients are treated at one IVF centre, whereas their gametes/embryos are tested elsewhere, at an independent PGD centre. Transport PGD/preimplantation genetic screening (PGS) has a unique set of challenges with respect to the nature of the sample and the rapid turn-around time required. PGS is currently controversial. Opinions of laboratory specialists and clinicians interested in PGD and PGS have been taken into account here. Current evidence suggests that PGS at cleavage stages is ineffective, but whether PGS at the blastocyst stage or on polar bodies might show improved delivery rates is still unclear. Thus, in this revision, PGS has been included. This document should assist everyone interested in PGD/PGS in developing the best laboratory and clinical practice possible.

Chromosomal characteristics at cleavage and blastocyst stages from the same embryos

“…Indications for PGS include advanced maternal age, repeated implantation failure, severe male infertility, and couples with normal karyotypes who have experienced recurrent miscarriages [15]. Because of a high percentage of mosaicism in cleavage embryos, PGS on blastocyst biopsies is recommended.…”

Preimplantation Genetic Testing: Current Status and Future Prospects

“…Prenatal testing through chorionic villus sampling (CVS) or amniocentesis is recommended to confirm the results of PGD. Patients should be reminded of alternative reproductive options including use of donor gametes, prenatal diagnosis (PND), accepting genetic risk without further testing, adoption, and having no children or no additional children (Harton et al, 2011c).…”

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis

“…[2][3][4] With respect to monogenic diseases, PGD can theoretically be applied for any genetic disease with a definitive molecular diagnosis and/or defined linkage within a family. The quantity of sample available for the genetic analysis in PGD is minimal, and in most cases comprises no more than a single cell.…”