Background

Preimplantation genetic testing for Aneuploidy (PGT-A) is a genetic screening procedure performed on embryonic cells obtained by in vitro fertilization (IVF) prior to uterine transfer, with the aim of identifying chromosomal aneuploidies and selecting embryos suitable for transfer. Recent studies indicate that PGT-A can significantly improve implantation rate, clinical pregnancy rate, ongoing pregnancy rate and live birth rate in women of advanced maternal age, while reducing the risks of miscarriage and congenital anomalies and decreasing the vertical transmission risk of hereditary disorders^[1-3].

PGT-A technologies have evolved from early fluorescence in situ hybridization (FISH) to microarray platforms (aCGH/SNP array) and, more recently, to widely adopted next-generation sequencing (NGS) methods. With advances in blastocyst culture and molecular diagnostics, NGS owing to its higher resolution and accuracy, has gradually become the preferred choice for PGT-A in reproductive medicine^[4-5]. In clinical practice, PGT-A commonly employs low-pass whole-genome sequencing (LP-WGS) to generate read-depth information across the whole genome that can be analyzed to detect whole-chromosome aneuploidies, segmental aneuploidies, and, to a certain extent, mosaicism.

Responding to these technological advances and clinical demands, Nanodigmbio developed the End-to-End Solution for PGT-A by LP-WGS. By integrating optimized whole-genome amplification (WGA), NGS library preparation, and bioinformatics analysis pipelines, this solution provides an integrated workflow from single-cell or ultra-low input gDNA samples through to automated reporting, enabling laboratories to increase throughput and turnaround while maintaining sensitivity and accuracy, thereby delivering reliable technical support for reproductive decision-making.

Solution

End-to-End Solution for PGT-A by LP-WGS (hereafter referred to as Comprehensive PGT-A Solution) provides a streamlined, scalable workflow for NGS-based PGT-A using LP-WGS. The solution integrates the NadPrep Single Cell WGA Kit, NadPrep DNA Library Preparation Kit series with XCapViz Bioinformatics Visualization System and prebuilt analysis pipeline (SenS PGT-A) to enable automated reporting and interpretation.

Comprehensive PGT-A Solution has been optimized for the reliable detection of CNVs, including whole-chromosome, mosaic and segmental aneuploidies, from DNA derived from single cells or ultra-low amounts of purified gDNA. The complete workflow begins with cell lysis and WGA, followed by NGS library preparation and incorporation of unique dual indexes (UDIs). Final libraries can be pooled for multiplexed sequencing of up to 768 samples per run on mainstream sequencing platforms. Due to the prebuilt pipeline in XCapViz, Comprehensive PGT-A Solution delivers accurate calls of aneuploidies, reliable detection of low-level mosaicism (~30%) in defined mixtures, and the capability to call chromosomal aneuploidies at 5 Mb-resolution with as few as 5 M read pairs. By delivering high-quality, reproducible data, Comprehensive PGT-A Solution is expected to become a powerful technological tool to gain deeper insights into chromosomal variation in PGT-A applications.

Single Cell WGA	DNA Library Preparation	Bioinformatics Analysis
NadPrep Single Cell WGA Kit	NadPrep DNA Library Preparation Kit v2 or NadPrep EZ DNA Library Preparation Kit v2	• XCapViz Bioinformation Analysis Visual System • Prebuilt Pipelines (SenS PGT-A)

For research use only. Not for use in diagnostic procedures.