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Genetic analysis of biopsy-related droplets and its potential applications in PGT-SR patients

Year: 2026

Type: article

Abstract: Purpose: To investigate genetic material in biopsy-related droplets (BRDs) from blastocyst biopsy and its potential applications in preimplantation genetic testing for structural rearrangements (PGT-SR). Methods: BRDs were collected from 218 blastocysts by combining three types of biopsy-related droplets (biopsy, washing, and temporary storage droplets) into ~15 µL samples. Genomic DNA amplification and copy number variation (CNV) sequencing library preparation were performed. Next-generation sequencing (NGS) was conducted on BRD libraries with concentrations ≥0.5 ng/µL. Results: 69.27% of BRDs had a sequencing library concentration (CSL) ≥ 0.5 ng/µL, with a CNV detection success rate of 94.04%. CSL was significantly higher in biopsy-classified non-euploid than euploid blastocysts (P < 0.0001). Among 142 BRDs with successful CNV detection, 87.32% showed ploidy concordance with PGT findings. Complete or partial concordance was observed in 77.53% of blastocysts with structural rearrangement-related abnormalities. In 37 transferred biopsy-euploid blastocysts, clinical pregnancy rates were higher in the BRD-euploid and undetectable/non-informative BRD groups than in the BRD-non-euploid group (85.71% and 86.96% vs. 28.57%). In seven blastocysts undergoing secondary biopsy after initial testing failure, BRD and secondary biopsy results showed 85.71% ploidy concordance. Conclusions: BRD-based genetic testing may serve as an adjunct to conventional biopsy-based testing in PGT-SR.

Source: Frontiers in Endocrinology

DOI: 10.3389/fendo.2026.1946046