Quality control standards in PGD and PGS.

Area of Science:

• Reproductive medicine
• Clinical genetics
• Embryology

Background:

• Preimplantation genetic diagnosis (PGD) aids couples at risk of transmitting genetic disorders.
• It involves in vitro fertilization (IVF) and embryo biopsy at various developmental stages.
• Preimplantation genetic screening (PGS) analyzes chromosomal abnormalities for embryo selection.

Purpose of the Study:

• To outline the methodologies and importance of PGD and PGS.
• To highlight the role of advanced genetic technologies in reproductive medicine.
• To emphasize the need for laboratory accreditation and quality assurance.

Main Methods:

• Embryo biopsy at zygote, cleavage, or blastocyst stages.
• Genetic analysis using polymerase chain reaction (PCR) for single gene defects.
• Chromosome analysis via array comparative genomic hybridization (aCGH) or next-generation sequencing (NGS).

Main Results:

• Advanced techniques like PCR, aCGH, NGS, and karyomapping have improved diagnostic accuracy.
• Accreditation, such as ISO 15189, ensures diagnostic test quality and reliability.
• Collaboration between IVF labs and diagnostic centers is crucial for successful PGD/PGS implementation.

Conclusions:

• PGD and PGS are essential tools for preventing the transmission of genetic abnormalities.
• Accreditation and adherence to international standards (ISO 15189) are vital for PGD/PGS services.
• Continuous advancements in genetic technologies enhance the effectiveness of PGD and PGS.