ABSTRACT

In this respect, preimplantation genetic diagnosis (PGD) has an advantage over conventional prenatal testing. Couples at risk of the disease, who would like to prevent the transmission of the disease to their offspring, have the option to go through a medically assisted procedure such as in vitro fertilization (IVF), with or without intracytoplasmatic sperm injection (ICSI), followed by in vitro diagnosis of the resulting embryos after a few days of development. Only disease-free embryos are transferred to the uterus and therefore couples are not faced with a difficult decision about pregnancy termination. Over the past 10 years, PGD has become available for most of the monogenic and chromosomal disorders for which prenatal testing is available. Patients who prefer PGD over prenatal diagnosis and selective abortion may do so because the latter option conflicts with their fundamental beliefs. They also may select PGD after having one or more conventional prenatal diagnoses with unsuccessful outcomes. Finally, they may opt for PGD because they require medically assisted reproduction (IVF or ICSI) anyway due to infertility.