Abstract
BackgroundRecent 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.MethodsThe 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).ResultsOur 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.ConclusionsOur 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.
Highlights
In vitro fertilization (IVF) is the basis for successfully selecting a viable embryo after ovarian stimulation [1]
The second part involved a retrospective blinded assessment of whole-genome amplification (WGA) products, selected from 157 consecutive clinical PGS cycles performed on single blastomeres that were biopsied from cleavage-stage embryos in the period of July 2014–November 2016
We found no significant difference in the GC content between the two kits (45% for SurePlex and 41% for DOP-PCR)
Summary
In vitro fertilization (IVF) is the basis for successfully selecting a viable embryo after ovarian stimulation [1]. Studies have shown that approximately 25% of oocytes in women in their early 30s are chromosomally abnormal [2]. Embryonic chromosomal abnormalities can directly lead to implantation of an abnormal conceptus, resulting in early miscarriage, late abortion, or the delivery. Compared with couples with normal karyotype, individuals who were diagnosed as translocation carriers had a higher ratio of inherited copy number variations (CNVs) in their embryos, such as the abnormal of chromosome 13, 14 in the blastomeres of robertsonian translocation carrier [7]. Robertsonian translocation carriers were phenotypically normal but had a high risk of miscarriage and may have a child with chromosomal abnormalities [8, 9]. Accurate diagnosis can increase the success rate of implantation and live birth and reduce the miscarriage. The present study aimed to evaluate the applicability and efficiency of SSP in PGD/S
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