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Preimplantation genetic diagnosis/screening by comprehensive molecular testing

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Reproductive Medicine and Biology

Abstract

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.

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Acknowledgments

The authors thank Drs. M. Tsutsumi and T. Ohye for helpful discussions. These studies were supported by a grant-in-aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, and grants for Research on Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan.

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Authors and Affiliations

  1. Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi, 470-1192, Japan

    Hiroki Kurahashi, Takema Kato, Jun Miyazaki & Hidehito Inagaki

  2. Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Aichi, 470-1192, Japan

    Hiroki Kurahashi, Yuya Ouchi & Hidehito Inagaki

  3. Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi, 470-1192, Japan

    Jun Miyazaki, Haruki Nishizawa, Eiji Nishio, Hironori Miyamura, Mayuko Ito & Takuma Fujii

  4. Department of Laboratory Medicine, Fujita Health University Hospital, Toyoake, Aichi, 470-1192, Japan

    Hiroshi Furukawa

  5. Department of Obstetrics and Gynecology, Sapporo Medical University, Sapporo, Hokkaido, 060-8543, Japan

    Toshiaki Endo

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  1. Hiroki Kurahashi
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  2. Takema Kato
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Correspondence to Hiroki Kurahashi.

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Conflict of interest

Hiroki Kurahashi, Takema Kato, Jun Miyazaki, Haruki Nishizawa, Eiji Nishio, Hiroshi Furukawa, Hironori Miyamura, Mayuko Ito, Toshiaki Endo, Yuya Ouchi, Hidehito Inagaki, and Takuma Fujii declare that they have no conflict of interest.

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Human rights statements and informed consent: All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and its later amendments. Informed consent was obtained from all patients for being included in the study.

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Kurahashi, H., Kato, T., Miyazaki, J. et al. Preimplantation genetic diagnosis/screening by comprehensive molecular testing. Reprod Med Biol 15, 13–19 (2016). https://doi.org/10.1007/s12522-015-0216-6

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