Preimplantation genetic diagnosis and screening (PGD/S) using a semiconductor sequencing platform

Li-Ya Wang†,
Xing-Qiang Rao†,
Yu-Qin Luo,
Bei Liu,
Chun-Fang Peng,
Dan Chen,
Kai Yan,
Ye-Qing Qian,
Yan-Mei Yang,
Ying-Zhi Huang,
Min Chen,
Yi-Xi Sun,
Hong-Ge Li,
Ying-Hui Ye,
Fan Jin,
Hai-Liang LiuEmail author and
Min-Yue DongEmail author View ORCID ID profile

†Contributed equally

Human Genomics201913:1

https://doi.org/10.1186/s40246-018-0187-x

Received: 6 June 2018
Accepted: 10 December 2018
Published: 3 January 2019

Abstract

Background

Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficiency of SSP in PGD/S.

Methods

The artificial positive single-cell-like DNAs and normal single-cell samples were chosen to test our semiconductor sequencing platform for preimplantation genetic diagnosis/screening (SSP-PGD/S) method with two widely used whole-genome amplification (WGA) kits. A total of 557 single blastomeres were collected from in vitro fertilization (IVF) couples, and their WGA products were processed and analyzed by our SSP-PGD/S method in comparison with array comparative genomic hybridization (array-CGH).

Results

Our SSP-PGD/S method indicated high compatibilities with two commercial WGA kits. For 557 single blastomeres, our method with four million reads in average could detect 24-chromosome aneuploidies as well as microdeletion/microduplication of the size over 4 Mb, providing 100% consistent conclusion with array-CGH method in the classification of whether it was transplantable.

Conclusions

Our studies suggested that SSP-PGD/S represents a valuable alternative to array-CGH and brought PGD/S into a new era of more rapid, accurate, and economic.