ABSTRACT
Preimplantation genetic diagnosis (PGD) is a preventive method to identify genetic disorders and chromosomal abnormalities in preimplantation embryos, thus giving couples the opportunity to avoid a pregnancy termination after the prenatal diagnosis of such disorders and abnormalities. With PGD, only embryos having a normal genotype and chromosomal constitution are selected for transfer to the uterus, providing the birth of a healthy baby. There are three main indication groups in which PGD could be applied: (1) aneuploidy screening for numerical chromosomal abnormalities, (2) diagnosis of structural chromosomal abnormalities in translocation and inversion carriers, and (3) diagnosis of genetic disorders or human leukocyte antigen (HLA) compatibility for a child in need of stem cell transplantation (Figure 17.1) [1-8].
