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

Our study validated multiple annealing and looping-based amplification cycle next-generation sequencing for 24-chromosome aneuploidy screening of blastocysts.

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Jin Huang, Ph.D., Liying Yan, Ph.D., Sijia Lu, Ph.D., Nan Zhao, B.A., X. Sunney Xie, Ph.D., Jie Qiao, M.D.

Volume 105, Issue 6, Pages 1532-1536 ing-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.

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.


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).


MALBAC-NGS provides concordant chromosomal results when compared with aCGH and SNP array in blastocysts with chromosomal abnormalities.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.