Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer

Area of Science:

• Reproductive medicine
• Genetics
• Molecular biology

Background:

• Preimplantation genetic screening (PGS) is crucial for identifying chromosomal abnormalities in embryos.
• Traditional PGS methods often require extensive laboratory work and embryo cryopreservation.
• Rapid, accurate genetic analysis is needed to optimize IVF outcomes.

Purpose of the Study:

• To evaluate the utility of a handheld, nanopore-based DNA sequencer for rapid preimplantation genetic screening (PGS).
• To assess the feasibility of using this technology for same-day genetic testing of embryo biopsy samples.

Main Methods:

• A laboratory study utilizing amplified genomic DNA from trophectoderm biopsy samples (n=9).
• Samples were analyzed using a novel rapid, multiplexed, short-read nanopore sequencing library preparation protocol on a handheld MinION sequencer.
• Results were compared against traditional next-generation sequencing (NGS) for cytogenetic accuracy and turnaround time.

Main Results:

• Multiplexed library preparation was completed in 45 minutes.
• Single-sample nanopore sequencing took 20 minutes; five samples were sequenced simultaneously in under 2 hours.
• Whole-chromosome aneuploidy screening results from nanopore sequencing were identical to those from NGS.

Conclusions:

• Nanopore sequencing is a promising tool for rapid, onsite PGS.
• This method enables same-day testing and embryo transfer, potentially eliminating the need for embryo freezing.
• The technology offers a faster, more accessible alternative to current PGS methods.