Aneuploidy Screening using Next Generation Sequencing

Area of Science:

• Reproductive biology
• Genetics
• Assisted Reproductive Technology (ART)

Background:

• Chromosomal aneuploidy is a major cause of implantation failure, miscarriage, and In Vitro Fertilization (IVF) failure.
• Preimplantation genetic testing for aneuploidy (PGT-A), previously known as preimplantation genetic screening (PGS), assesses chromosomal number in embryos.
• PGT-A aids in selecting viable embryos for transfer, thereby improving ART cycle success rates.

Purpose of the Study:

• To detail the Next Generation Sequencing (NGS) protocol, the current gold standard for PGT-A.
• To provide insight into the practical application of PGT-A in a laboratory setting.

Main Methods:

• Utilizing Next Generation Sequencing (NGS) for comprehensive chromosomal analysis of embryo biopsies.
• Employing blastomere and/or trophectoderm biopsy techniques for genetic assessment.
• Implementing a validated NGS protocol for PGT-A.

Main Results:

• The study describes the established NGS protocol for PGT-A.
• The protocol enables accurate assessment of numeric chromosomal constitution.
• The described method serves as the gold standard for PGT-A.

Conclusions:

• PGT-A, particularly using NGS, is a crucial tool for improving embryo selection in ART.
• The described NGS protocol represents the current gold standard for PGT-A implementation.
• Accurate aneuploidy screening enhances the success of fertility treatments.