[Preimplantation genetic diagnosis: technical and ethical considerations]

Area of Science:

• Reproductive Medicine
• Genetics
• Embryology

Context:

• Advances in medically assisted reproduction (ART) have led to significant developments.
• The first child born following pre-implantation genetic diagnosis (PGD) marked a milestone in 1990.
• PGD involves testing embryos for genetic anomalies 3-5 days post-fertilization.

Purpose:

• To evaluate the application and impact of pre-implantation genetic diagnosis in medically assisted reproduction.
• To discuss the prospects of PGD for couples at risk of genetic disorders.
• To highlight regulatory changes in Portugal concerning ART and embryo experimentation.

Summary:

• Pre-implantation genetic diagnosis (PGD) enables the selection of genetically unaffected embryos for transfer.
• This technique offers an alternative to conventional prenatal diagnosis, especially when ART is required.
• Early embryo selection via PGD can prevent the need for pregnancy termination.

Impact:

• PGD provides improved prospects for couples seeking to avoid passing on genetic conditions.
• It is particularly beneficial in ART cycles, optimizing embryo selection and reducing risks.
• Portuguese regulations in 2008 formalized ART procedures, including mandatory cryopreservation of viable embryos and guidelines for experimentation.