scholarly journals Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Zhihong Yang ◽  
James Lin ◽  
John Zhang ◽  
Wai Ieng Fong ◽  
Pei Li ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Comparative Genomic Hybridization ◽  
Genetic Screening ◽  
Array Comparative Genomic Hybridization ◽  
Preimplantation Genetic Screening ◽  
Comparative Genomic ◽  
Next Generation ◽  
Genomic Hybridization ◽  
Generation Sequencing

scholarly journals Validation of Next-Generation Sequencing and Array Comparative Genomic Hybridization for Diagnosis and Screening of Reciprocal and Robertsonian Translocations in Human Blastocysts

2020 ◽  
Author(s):  
Shengrong Du ◽  
Yun-Hong Lin ◽  
Yan Sun ◽  
Qing-Fen Chen ◽  
Zhi-Qing Huang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Cell Mass ◽  
Comparative Genomic ◽  
Next Generation ◽  
Genomic Hybridization ◽  
Robertsonian Translocations ◽  
Significant Difference ◽  
Generation Sequencing

Abstract Background: Advances in biotechnology, especially next-generation sequencing (NGS) and array comparative genomic hybridization (aCGH) approaches, have improved preimplantation genetic screening; however, these methods have not been directly compared. This study was carried out to identify the more promising method for screening reciprocal and Robertsonian translocations. Here, blastocysts from carriers with reciprocal and Robertsonian translocations were retrospectively evaluated and results from preimplantation genetic testing in 272 blastocytes were analysed for parental unbalanced translocations using aCGH and NGS. Results: There was no significant difference in the no embryo-transfer rate between aCGH and NGS. Among 59 blastocysts screened in the aCGH group, 32.76% were normal embryos and 67.24% were abnormal embryos, including 36.21% embryos with a translocation, 17.24% with no translocation, and 15.52% with combined abnormalities. Similar results were obtained from the 214 blastocysts tested in the NGS group. In women <35-years, more normal blastocysts were identified in the NGS group compared to the aCGH group. There was a higher rate of euploidy among blastocysts with higher quality grades in the NGS group than in the aCGH group for the trophectoderm (43.51% vs 29.41%) and inner cell mass (59.11% vs 25.00%). Conclusion: Equivalent clinical findings were observed for aCGH and NGS for parental reciprocal chromosomal translocations. However, NGS has the potential to overcome the inherent limitations of aCGH, including the detection of mosaicism and smaller partial gains/losses, thereby providing improvements in the detection of euploid blastocysts, along with enhanced reliability and sensitivity.

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