Preimplantation genetic diagnosis/screening by comprehensive molecular testing

Hiroki Kurahashi, Takema Kato, Jun Miyazaki, Haruki Nishizawa, Eiji Nishio, Hiroshi Furukawa, Hironori Miyamura, Mayuko Ito, Toshiaki Endo, Yuya Ouchi, Hidehito Inagaki, Takuma Fujii

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Although embryo screening by preimplantation genetic diagnosis (PGD) has become the standard technique for the treatment of recurrent pregnancy loss in couples with a balanced gross chromosomal rearrangement, the implantation and pregnancy rates of PGD using conventional fluorescence in situ hybridization (FISH) remain suboptimal. Comprehensive molecular testing, such as array comparative genomic hybridization and next-generation sequencing, can improve these rates, but amplification bias in the whole genome amplification method remains an obstacle to accurate diagnosis. Recent advances in amplification procedures combined with improvements in the microarray platform and analytical method have overcome the amplification bias, and the data accuracy of the comprehensive PGD method has reached the level of clinical laboratory testing. Currently, comprehensive PGD is also applied to recurrent pregnancy loss due to recurrent fetal aneuploidy or infertility with recurrent implantation failure, known as preimplantation genetic screening. However, there are still numerous problems to be solved, including misdiagnosis due to somatic mosaicism, cell cycle-related background noise, and difficulty in diagnosis of polyploidy. The technology for comprehensive PGD also requires further improvement.

Original languageEnglish
Pages (from-to)13-19
Number of pages7
JournalReproductive Medicine and Biology
Issue number1
Publication statusPublished - 01-01-2016

All Science Journal Classification (ASJC) codes

  • Reproductive Medicine
  • Cell Biology


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