PMID- 29259418 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20201001 IS - 1445-5781 (Print) IS - 1447-0578 (Electronic) IS - 1445-5781 (Linking) VI - 15 IP - 1 DP - 2016 Jan TI - Preimplantation genetic diagnosis/screening by comprehensive molecular testing. PG - 13-19 LID - 10.1007/s12522-015-0216-6 [doi] AB - 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. FAU - Kurahashi, Hiroki AU - Kurahashi H AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science Fujita Health University 1-98 Dengakugakubo, Kutsukake-cho 470-1192 Toyoake Aichi Japan. AD - Genome and Transcriptome Analysis Center Fujita Health University 470-1192 Toyoake Aichi Japan. FAU - Kato, Takema AU - Kato T AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science Fujita Health University 1-98 Dengakugakubo, Kutsukake-cho 470-1192 Toyoake Aichi Japan. FAU - Miyazaki, Jun AU - Miyazaki J AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science Fujita Health University 1-98 Dengakugakubo, Kutsukake-cho 470-1192 Toyoake Aichi Japan. AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. FAU - Nishizawa, Haruki AU - Nishizawa H AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. FAU - Nishio, Eiji AU - Nishio E AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. FAU - Furukawa, Hiroshi AU - Furukawa H AD - Department of Laboratory Medicine Fujita Health University Hospital 470-1192 Toyoake Aichi Japan. FAU - Miyamura, Hironori AU - Miyamura H AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. FAU - Ito, Mayuko AU - Ito M AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. FAU - Endo, Toshiaki AU - Endo T AD - Department of Obstetrics and Gynecology Sapporo Medical University 060-8543 Sapporo Hokkaido Japan. FAU - Ouchi, Yuya AU - Ouchi Y AD - Genome and Transcriptome Analysis Center Fujita Health University 470-1192 Toyoake Aichi Japan. FAU - Inagaki, Hidehito AU - Inagaki H AD - Division of Molecular Genetics, Institute for Comprehensive Medical Science Fujita Health University 1-98 Dengakugakubo, Kutsukake-cho 470-1192 Toyoake Aichi Japan. AD - Genome and Transcriptome Analysis Center Fujita Health University 470-1192 Toyoake Aichi Japan. FAU - Fujii, Takuma AU - Fujii T AD - Department of Obstetrics and Gynecology Fujita Health University School of Medicine 470-1192 Toyoake Aichi Japan. LA - eng PT - Journal Article PT - Review DEP - 20150714 PL - Japan TA - Reprod Med Biol JT - Reproductive medicine and biology JID - 101213278 PMC - PMC5715840 OTO - NOTNLM OT - Microarray OT - Next-generation sequencing OT - Preimplantation genetic diagnosis OT - Recurrent pregnancy loss OT - Translocation COIS- 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. EDAT- 2015/07/14 00:00 MHDA- 2015/07/14 00:01 PMCR- 2015/07/14 CRDT- 2017/12/21 06:00 PHST- 2015/05/26 00:00 [received] PHST- 2015/07/01 00:00 [accepted] PHST- 2017/12/21 06:00 [entrez] PHST- 2015/07/14 00:00 [pubmed] PHST- 2015/07/14 00:01 [medline] PHST- 2015/07/14 00:00 [pmc-release] AID - RMB20216 [pii] AID - 10.1007/s12522-015-0216-6 [doi] PST - epublish SO - Reprod Med Biol. 2015 Jul 14;15(1):13-19. doi: 10.1007/s12522-015-0216-6. eCollection 2016 Jan.