Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening

Grace Wing Shan Kong; Yanlin Ma; Jian Ou; Yvonne Ka Yin Kwok; Wei Wang; Queenie Sum Yee Yeung; Cherry Kit Man Wong; Qi Li; Wen Xu; Weiying Lu; Hong Li; Tin Chiu Li; Kwong Wai Choy

doi:10.1016/j.tjog.2017.01.011

Validation of a high-throughput and robust technique: BACs-on-beads assay (KaryoLite BoBs) for pre-implantation aneuploidy screening

Taiwan J Obstet Gynecol. 2017 Aug;56(4):514-520. doi: 10.1016/j.tjog.2017.01.011.

Authors

Affiliations

¹ Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.
² Assisted Reproductive Technology Center, Affiliated Hospital, Hainan Medical University, Haikou, 570102, PR China.
³ Center of Reproduction and Genetics Suzhou Municipal Hospital, Jiangsu Suzhou 215002, PR China.
⁴ Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China; Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, PR China. Electronic address: richardchoy@cuhk.edu.hk.

PMID: 28805610
DOI: 10.1016/j.tjog.2017.01.011

Abstract

Objective: This study aims to validate the BACs-on-Beads (BoB) technology as a robust and high throughput method for pre-implantation genetic screening (PGS) for aneuploidy.

Material and methods: The performances with respect to the sensitivity, specificity, success rate and detection rate of this technique from new BoBs technology and traditional array chromosomal genomic hybridization (aCGH) were compared. And the use of BoBs as a screening tool for euploid embryos in PGS was evaluated.

Result: In the first part of validation study, there were total 75 embryos completed PGS by both BoBs and aCGH. The success rate of PGS was 97.4%, and the results showed 100% concordance between BoBs and aCGH for aneuploidy. In the second part, a total 219 embryos were involved. The success rate of PGS by BoBs was 100%. BoBs identified 28% (62/219) euploidy which were further confirmed to be euploidy by aCGH.

Conclusion: This new strategic approach using BoBs as a first tier PGS screening tool and aCGH as a confirmatory tool can increase the throughput of PGS with a reduced cost and time to meet the demand in high volume units.

Keywords: Aneuploidy; BoB; Karyolite; PGS; aCGH.

Publication types

Validation Study

MeSH terms

Aneuploidy*
Comparative Genomic Hybridization / methods
Genetic Testing / methods*
High-Throughput Screening Assays / methods*
Humans
Karyotyping / methods*
Preimplantation Diagnosis / methods*