Preimplantation genetic diagnosis/screening by comprehensive molecular testing
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Preimplantation genetic diagnosis/screening by comprehensive molecular testing Hiroki Kurahashi1,2 • Takema Kato1 • Jun Miyazaki1,3 • Haruki Nishizawa3 Eiji Nishio3 • Hiroshi Furukawa4 • Hironori Miyamura3 • Mayuko Ito3 • Toshiaki Endo5 • Yuya Ouchi2 • Hidehito Inagaki1,2 • Takuma Fujii3
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Received: 26 May 2015 / Accepted: 1 July 2015 Ó Japan Society for Reproductive Medicine 2015
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 nextgeneration 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 & Hiroki Kurahashi [email protected] 1
Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, 1-98 Dengakugakubo, Kutsukake-cho, Toyoake, Aichi 470-1192, Japan
2
Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Aichi 470-1192, Japan
3
Department of Obstetrics and Gynecology, Fujita Health University School of Medicine, Toyoake, Aichi 470-1192, Japan
4
Department of Laboratory Medicine, Fujita Health University Hospital, Toyoake, Aichi 470-1192, Japan
5
Department of Obstetrics and Gynecology, Sapporo Medical University, Sapporo, Hokkaido 060-8543, Japan
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. Keywords Microarray Next-generation sequencing Preimplantation genetic diagnosis Recurrent pregnancy loss Translocation
Introduction Recurrent pregnancy loss (RPL) is a common clinical condition affecting approximately 5 % of couples trying to conceive [1]. A significant proportion of RPL is associated with chromosomal etiologies. For example, in 3.5 % of couples with RPL, one of the partners is a carrier of a balanced gross chromosomal rearrangement such as translocation or inversion. These particular cases could be treated by preimplantation genetic diagnosis (PGD). PGD involves chromosomal analysis of the fertilized egg using fluorescence in situ hybridization (FISH). Human fertilized
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