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Peer-reviewedCC BY 4.0Frontiers in Endocrinology

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

  • Zhiqing Huang1,2
  • Yuzhi Chen1,2
  • Xiaonuan Cai3
  • Shujing Zhu4
  • Jing Wang4
  • Ruili Xie3
  • Hang Shi1,2
  • Aili Yu1,2
  • Beihong Zheng1,5
  • Yan Sun1,5
5 affiliations
  1. 1Center of Reproductive Medicine, Fujian Maternity and Child Health Hospital
  2. 2Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University
  3. 3The School of Basic Medical Sciences, Fujian Medical University
  4. 4The First Clinical Medical College, Fujian Medical University
  5. 5Fujian Clinical Research Center for Maternal-Fetal Medicine
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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.

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Cite

BibTeXRIS
BibTeX
@article{huang2026genetic,
  title = {{Genetic analysis of biopsy-related droplets and its potential applications in PGT-SR patients}},
  author = {Zhiqing Huang and Yuzhi Chen and Xiaonuan Cai and Shujing Zhu and Jing Wang and Ruili Xie and Hang Shi and Aili Yu and Beihong Zheng and Yan Sun},
  journal = {Frontiers in Endocrinology},
  year = {2026},
  month = oct,
  doi = {10.3389/fendo.2026.1946046},
  url = {https://www.frontiersin.org/articles/10.3389/fendo.2026.1946046/full},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Genetic analysis of biopsy-related droplets and its potential applications in PGT-SR patients
AU  - Zhiqing Huang
AU  - Yuzhi Chen
AU  - Xiaonuan Cai
AU  - Shujing Zhu
AU  - Jing Wang
AU  - Ruili Xie
AU  - Hang Shi
AU  - Aili Yu
AU  - Beihong Zheng
AU  - Yan Sun
PY  - 2026
DA  - 2026/10/21
JO  - Frontiers in Endocrinology
DO  - 10.3389/fendo.2026.1946046
UR  - https://www.frontiersin.org/articles/10.3389/fendo.2026.1946046/full
AB  - 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.
SN  - 1664-2392
ER  -