Jin Huang1, Liying Yan1, Sijia Lu2, Nan Zhao3, X Sunney Xie4, Jie Qiao5. 1. Reproductive 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. 2. Yikon Genomics, Jiangsu, People's Republic of China. 3. Reproductive Medical Centre, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, People's Republic of China. 4. Biodynamic Optical Imaging Center, College of Life Sciences, Peking University, Beijing, People's Republic of China; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, Massachusetts. 5. Reproductive 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. Electronic address: jie.qiao@263.net.
Abstract
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.
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.
Authors: Luis R Hoyos; Connie Y Cheng; Kathleen Brennan; Gary Hubert; Brandon Wang; Richard P Buyalos; Molly Quinn; Mousa Shamonki Journal: J Assist Reprod Genet Date: 2020-01-18 Impact factor: 3.412
Authors: Ermanno Greco; Katarzyna Litwicka; Maria Giulia Minasi; Elisabetta Cursio; Pier Francesco Greco; Paolo Barillari Journal: Int J Mol Sci Date: 2020-06-19 Impact factor: 5.923