Validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of blastocysts

Fertility and Sterility
Jin HuangJie Qiao

Abstract

To validate a 24-chromosome aneuploidy preimplantation genetic screening protocol based on multiple annealing and looping-based amplification cycle (MALBAC) and next-generation sequencing (NGS). Single-nucleotide polymorphism (SNP) array and MALBAC-NGS analysis. University-affiliated in vitro fertilization (IVF) center. Fifteen women from whom 30 blastocysts were obtained for genotyping. Not applicable. Chromosomal status comparison of results of array comparative genomic hybridization (aCGH), SNP array, and MALBAC-NGS for 24-chromosome aneuploidy screening. Trophectoderm biopsy samples from blastocysts were first analyzed using array comparative genomic hybridization (aCGH); the embryos with detected with chromosomal abnormalities were rebiopsied, and dissociated into two portions, and subjected to SNP array and MALBAC-NGS for 24-chromosome aneuploidy screening. All 30 samples were successfully genotyped by array CGH, SNP array, and MALBAC-NGS. All blastocysts were correctly identified as aneuploid, and there was a 100% concordance in terms of diagnosis provided between the three methods. In the 720 detected chromosomes, the concordance rate between MALBAC-NGS and array CGH was 99.31% (715 of 720), and the concordance rate bet...Continue Reading

References

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Citations

Apr 11, 2017·Systems Biology in Reproductive Medicine·Xavier VendrellMiguel Ruiz-Jorro
Oct 5, 2017·Proceedings of the National Academy of Sciences of the United States of America·Jiawei XuYingpu Sun
Feb 6, 2019·Biology of Reproduction·Carmen RubioCarlos Simón
Sep 19, 2019·Reproductive Biology and Endocrinology : RB&E·María-José EscribàVanessa Peinado
Jul 21, 2020·Reproductive Medicine and Biology·Naoki Aoyama, Keiichi Kato
Oct 30, 2016·Proceedings of the National Academy of Sciences of the United States of America·Juanjuan XuSijia Lu
Jan 20, 2020·Journal of Assisted Reproduction and Genetics·Luis R HoyosMousa Shamonki
Jun 25, 2020·International Journal of Molecular Sciences·Ermanno GrecoPaolo Barillari
Feb 12, 2017·Journal of Assisted Reproduction and Genetics·Jin HuangJie Qiao
Jun 16, 2017·Journal of Medical Screening·Joyce C Harper
May 13, 2017·Annual Review of Genomics and Human Genetics·Nathan R Treff, Rebekah S Zimmerman
Jun 16, 2021·The Journal of Clinical Investigation·Yidong ChenJin Huang

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