24-chromosome PCR for aneuploidy screening

Area of Science:

• Reproductive Medicine
• Genetics
• Embryology

Background:

• Comprehensive chromosome screening (CCS) is crucial for selecting euploid embryos in assisted reproductive technologies.
• Preclinical validation is essential to ensure the accuracy and reliability of CCS methodologies.
• Various platforms exist for CCS, each with distinct advantages and limitations.

Purpose of the Study:

• To highlight the benefits of PCR-based CCS techniques.
• To emphasize the significance of thorough preclinical validation for these methods.
• To discuss the role of PCR-based CCS in improving outcomes for patients with infertility.

Main Methods:

• Validation of quantitative real-time (q)PCR-based CCS using cell lines and blinded embryo evaluation.
• Comparison of PCR-based CCS with alternative platforms through prospective randomized clinical trials.
• Preclinical validation of targeted PCR-based next-generation sequencing (NGS), assessing consistency, accuracy, resolution, and throughput.

Main Results:

• Quantitative real-time PCR-based CCS demonstrated superior precision, leading to improved implantation and delivery rates.
• Targeted PCR-based NGS showed high consistency, accuracy comparable to existing methods, and enhanced throughput.
• PCR-based NGS offers simultaneous detection of single gene disorders and triploidy, with potential cost reductions.

Conclusions:

• PCR-based CCS methodologies enhance implantation and delivery rates, facilitating fresh embryo transfers.
• While alternative euploid embryo selection methods exist, PCR-based techniques offer distinct advantages.
• PCR-based NGS technology holds promise for further advancing CCS utility in managing infertility.