A retrospective study of paediatric health and development following pre-implantation genetic diagnosis and screening

Pre-implantation genetic diagnosis and screening (PGD and PGS) are treatments for patients that have (or are carriers of) an inherited genetic disorder, or who have had a history of miscarriage, problems with embryo implantation, etc. Often conducted alongside assisted reproductive technologies (ART), a number of embryos are produced, and the DNA and chromosomes of each are tested for various disorders by removing one or two cells for analysis. A retrospective cross-sectional study looking at the health and development of children born following PGD and PGS is now underway, aided by an online system developed by the EuroPGDcode project. Data has been collected from a number of ART/PGD centres worldwide, and has been entered into this system. A number of complex queries have been constructed to interrogate the data; although retrospective and not case controlled, indications are that the birth abnormality rate is low at 1.42%. However the special care requirements of PGD infants was 22.9% and the incidence of health problems after birth was 22.3%. In addition to statistical analysis of the data, a number of cases of particular interest have been identified. The online system provides the facility for the full details of these cases to be exported in a specially designed XML format for further analysis.