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Updated: Mar 25, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of blastocysts
Jin Huang1, Liying Yan1, Sijia Lu2
1Reproductive Medical Centre, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, People's Republic of China; Key Laboratory of Assisted Reproduction, Ministry of Education and Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing, People's Republic of China.
Objective:
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).
Design:
Single-nucleotide polymorphism (SNP) array and MALBAC-NGS analysis.
Setting:
University-affiliated in vitro fertilization (IVF) center.
Patient(S):
Fifteen women from whom 30 blastocysts were obtained for genotyping.
Intervention(S):
Not applicable.
Main Outcome Measure(S):
Chromosomal status comparison of results of array comparative genomic hybridization (aCGH), SNP array, and MALBAC-NGS for 24-chromosome aneuploidy screening.
Result(S):
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 between MALBAC-NGS and SNP array was 99.58% (717 of 720). When compared with aCGH, MALBAC-NGS specificity for aneuploidy call was 99.85% (674 of 675; 95% CI, 99.17-99.97) with a sensitivity of 91.11% (41 of 45; 95% CI, 79.27-96.49). When compared with SNP array, MALBAC-NGS specificity for aneuploidy call was 99.85% (676 of 677; 95% CI, 99.17-99.97) with a sensitivity of 95.35% (41 of 43; 95% CI, 85.54-98.72).
Conclusion(S):
MALBAC-NGS provides concordant chromosomal results when compared with aCGH and SNP array in blastocysts with chromosomal abnormalities.
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