Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice

Preimplantation genetic diagnosis (PGD) allows genetically disadvantaged couples to reproduce, while avoiding the birth of children with targeted genetic disorders. By ensuring unaffected pregnancies, PGD circumvents the possible need and therefore risks of pregnancy termination. This review will describe the current progress of PGD for Mendelian and chromosomal disorders and its impact on reproductive medicine.

Indications for PGD have expanded beyond those used in prenatal diagnosis, which has also resulted in improved access to HLA-compatible stem-cell transplantation for siblings through preimplantation HLA typing. More than 1000 apparently healthy, unaffected children have been born after PGD, suggesting its accuracy, reliability and safety. PGD is currently the only hope for carriers of balanced translocations. It also appears to be of special value for avoiding age-related aneuploidies in in-vitro fertilization patients who have a particularly poor prognosis for a successful pregnancy; the accumulated experience of thousands of PGD cycles strongly suggests that PGD can improve clinical outcome for such patients.

PGD would particularly benefit poor prognosis in-vitro fertilization patients and other at-risk couples by improving reproductive outcomes and avoiding the birth of affected offspring.