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Updated: Nov 11, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than
Min Xiao1, Cai-Xia Lei2, Yan-Ping Xi2
1Shanghai Ji Ai Genetics and In Vitro Fertilization Institute, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China; Genetics Center of Obstetrics and Gynecology of Fudan University, The Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China.
Next-generation sequencing (NGS) preimplantation genetic testing (PGT) detects more chromosomal mosaicism than single-nucleotide polymorphism (SNP) array PGT. This improved detection may lead to better pregnancy outcomes in in vitro fertilization cycles.
Area of Science:
- Reproductive Medicine
- Genetics
- Assisted Reproductive Technology
Background:
- Chromosomal mosaicism in embryos can impact pregnancy outcomes.
- Preimplantation genetic testing (PGT) aims to identify chromosomal abnormalities in embryos.
- Different PGT platforms, including next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) arrays, have varying capabilities in detecting mosaicism.
Purpose of the Study:
- To compare the detection rates of chromosomal mosaicism between NGS-based PGT and SNP array-based PGT.
- To assess the association between PGT platform and pregnancy outcomes in patients undergoing in vitro fertilization.
Main Methods:
- Retrospective cohort study of 6427 blastocysts from 1513 patients undergoing in vitro fertilization.
- Comparison of mosaicism detection rates between NGS-based PGT and SNP array-based PGT.
- Analysis of pregnancy outcomes, including spontaneous abortion and ongoing pregnancy/live birth rates.
Main Results:
- NGS-based PGT detected significantly higher rates of mosaicism (23.3%) compared to SNP array-based PGT (7.7%).
- The SNP array cohort had a higher spontaneous abortion rate (10.07%) than the NGS cohort (6.33%).
- The ongoing pregnancy/live birth rate was slightly higher in the NGS cohort (44.1%) versus the SNP array cohort (42.28%).
Conclusions:
- NGS-based PGT offers superior detection of chromosomal mosaicism in trophectoderm specimens compared to SNP array-based PGT.
- Clinical implementation of NGS for PGT may enhance pregnancy outcomes.
- Further research on detailed blastocyst classification is needed to optimize embryo selection for transfer.
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