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P-513 Optimizing clinical exome design for recessive genetic conditions in preconception carrier screening: insights from 14,125 exomes
A. Capalbo1, R. Alonso2, J. Jimenez-Almazan2, M. Fabiani1, P. Mir Pardo2, V. Romanelli1, D. Jiménez2, C. Simón2,3,4,5, J. Martin2
1Igenomix, Reproductive Genetics, Marostica, Italy
2Igenomix, Reproductive Genetics, Valencia, Spain
3Baylor College of Medicine, Department of Ob/Gyn, Houston- TX, U.S.A. 4Stanford University, Department of Ob/Gyn, Stanford CA, U.S.A. 5Valencia University, Obstetrics & Gynecology, Valencia, Spain
P-514 46,XX male? Reality, PGT-A misdiagnosis or laboratory quality management error?
M.C. Schiewe1, N.L. Nugent1, C.M. Rios2, S. Zozula1, S. Shahbazian1, J.B. Whitney1, R.E. Anderson3 1Ovation Fertility, ART Lab, Newport Beach- CA, U.S.A.
2Ovation Genetics, NGS Lab, Henderson- NV, U.S.A.
3SCCRM, Clinic, Newport Beach- CA, U.S.A.
P-515 Embryo culturing conditions and non-invasive preimplantation genetic testing for aneuploidy detection (NI-PGT-A); an observational study
M. Jasper1, C. Robinson1
1PerkinElmer Health Sciences Australia Pty Ltd, PerkinElmer Health Sciences Australia Pty Ltd, Adelaide, Australia
P-516 Prevalence and properties of copy number variation (1-10 Mb) in preimplantation blastocysts
P. Xie1, D. Chen2, S. Zhou1, P. Liu2, L. Hu1, Y. Tan1, G. Lu1, G. Lin1
1National Engineering and Research Center of Human Stem Cell- Changsha 410078- China
2Institute of Reproduction and Stem Cell Engineering- Central South University- Changsha- Hunan 410078- China
3Reproductive and Genetic Hospital of Citic-Xiangya- China 2MGI- Shenzhen- 518083- China, research, Shenzhen, China
P-517 Efficacy of nuclear transfer to prevent the inherited mitochondrial pathology
D. Mykytenko1, P. Mazur2, L. Dyachenko2, M. Borisov3, Y. Masliy3, V. Lamtyeva1, K. Lavrova1, T. Chernega1, V. Zukin4
1Clinic of Reproductive Medicine ‘NADIYA’, Molecular Diagnostics Laboratory, Kiev, Ukraine 2Clinic of Reproductive Medicine ‘NADIYA’, Laboratory of embryology, Kiev, Ukraine
3Clinic of Reproductive Medicine ‘NADIYA’, IVF dpt, Kiev, Ukraine
4Clinic of Reproductive Medicine ‘NADIYA’, Administration, Kiev, Ukraine
P-518 Segmental insertions and monosomies are linked to developmental arrest
N. De Munck1, A. Bayram1, I. Elkhatib1, A. Liñán2, A. Arnanz1, B. Lawrenz1, H.M. Fatemi1 1IVIRMA, IVI Middle East Fertility Clinic, Abu Dhabi, United Arab Emirates
2IVIRMA, IVI Middle East Fertility Clinic, Muscat, Oman
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