The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos Junmei Fan, Li Wang, Hui Wang, Minyue.

Slides:

Advertisements

Similar presentations

Development of guideline-based quality indicators for recurrent miscarriage E. van den Boogaard, M. Goddijn, N.J. Leschot, F. van der Veen, J.A.M. Kremer,

Advertisements

Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective.

Array CGH analysis shows that aneuploidy is not related to the number of embryos generated Baris Ata, Brian Kaplan, Hal Danzer, Michael Glassner, Michael.

Mostafa Metwally, Cynthia M. Farquhar, Tin Chiu Li

Programmes and prospects for ovotechnology

Chromosomal polymorphisms are associated with female infertility and adverse reproductive outcomes after infertility treatment: a 7-year retrospective.

Attitudes and policies regarding access to fertility care and assisted reproductive technologies in Israel Daniel Sperling, Yael Simon Reproductive.

Validation of next-generation sequencing for comprehensive chromosome screening of embryos Allen Kung, Santiago Munné, Brandon Bankowski, Alison Coates,

Preferential selection and transfer of euploid noncarrier embryos in preimplantation genetic diagnosis cycles for reciprocal translocations Li Wang,

A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis Chong Chen, David.

Anastasia A. Theodosiou, Martin H. Johnson

Delphine Haouzi, Hervé Dechaud, Said Assou, John De Vos, Samir Hamamah

Effects of liraglutide on ovarian dysfunction in polycystic ovary syndrome: a randomized clinical trial Malin Nylander, Signe Frøssing, Helle V. Clausen,

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing Svetlana Rechitsky,

Diagnostic Genome Profiling in Mental Retardation

Development and validation of a next-generation sequencing–based protocol for 24- chromosome aneuploidy screening of embryos Francesco Fiorentino, Ph.D.,

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui.

Genome-Wide Oligonucleotide Array Comparative Genomic Hybridization for Etiological Diagnosis of Mental Retardation Bixia Xiang, Hongbo Zhu, Yiping Shen,

Preferential selection and transfer of euploid noncarrier embryos in preimplantation genetic diagnosis cycles for reciprocal translocations Li Wang,

MiR-483–5p and miR-486–5p are down-regulated in cumulus cells of metaphase II oocytes from women with polycystic ovary syndrome Lin Shi, Shan Liu, Wanqiu.

Reduction in exposure of human embryos outside the incubator enhances embryo quality and blastulation rate Jun Qiang Zhang, Xiu Ling Li, Yuzhu Peng,

Low aneuploidy rate in early pregnancy loss abortuses from patients with polycystic ovary syndrome Qiong Wang, Lu Luo, Qiong Lei, Ming-Mei Lin, Xuan.

High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization Xiaoxiao Zhang, Antoine.

Fresh transfer outcome predicts the success of a subsequent frozen transfer utilizing blastocysts of the same cohort L.F. Doherty, J.R. Martin, U. Kayisli,

Cytoplasm replacement following germinal vesicle transfer restores meiotic maturation and spindle assembly in meiotically arrested oocytes John Zhang,

Why are reproductive cancers more common in nulliparous women?

K. Gersak, A. Veble Reproductive BioMedicine Online

Anthropometric indices to predict insulin resistance in women with polycystic ovary syndrome in China Tingting Liu, Qiuyi Wang, Wei Huang, Jing Tan,

Two protocols to treat thin endometrium with granulocyte colony-stimulating factor during frozen embryo transfer cycles Bin Xu, Qiong Zhang, Jie Hao,

S Munné, E Fragouli, P Colls, MG Katz-Jaffe, WB Schoolcraft, D Wells

Effect of N-acetyl-cysteine after ovarian drilling in clomiphene citrate-resistant PCOS women: a pilot study A. Nasr Reproductive BioMedicine Online

Fertility preservation consultation for women with cancer: are we helping patients make high-quality decisions? Jayeon Kim, Allison M. Deal, Ursula Balthazar,

Prognostic factors influencing fresh and frozen IVF outcomes: an analysis of the UK national database W. Mark Hirst, Andy Vail, Daniel R. Brison, Stephen.

Endometrial injury to overcome recurrent embryo implantation failure: a systematic review and meta-analysis Neelam Potdar, Tarek Gelbaya, Luciano G.

The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative.

Karyotype determination and reproductive guidance for short stature women with a hidden Y chromosome fragment De-Hua Cheng, Fei Gong, Ke Tan, Chang-Fu.

Comprehensive meiotic segregation analysis of a 4-breakpoint t(1;3;6) complex chromosome rearrangement using single sperm array comparative genomic hybridization.

Reproductive BioMedicine Online

M. Dieterich, M. Bolz, T. Reimer, S. Costagliola, B. Gerber

Quadrivalent asymmetry in reciprocal translocation carriers predicts meiotic segregation patterns in cleavage stage embryos Yueping Zhang, Saijuan Zhu,

Morphological systems of human embryo assessment and clinical evidence

Lisa Cummins, Juliette Koch, Suha Kilani

Mutational analysis of TOX3 in Chinese Han women with polycystic ovary syndrome Yuqian Cui, Shigang Zhao, Han Zhao, Yue Lv, Mengru Yu, Yu Wang, Zi-Jiang.

The incidence of long heterochromatic polymorphism variants in infants conceived through assisted reproductive technologies Andrew Wilson, Katherine.

Polymorphism in DNMT1 may modify the susceptibility to oligospermia

Mostafa Metwally, Cynthia M. Farquhar, Tin Chiu Li

The relationship between sperm head retardance using polarized light microscopy and clinical outcomes Belinda G. Vermey, Michael G. Chapman, Simon Cooke,

P Colls, N Goodall, X Zheng, S Munné Reproductive BioMedicine Online

Effect of chromosomal polymorphisms of different genders on fertilization rate of fresh IVF–ICSI embryo transfer cycles Ji Liang, Yongsheng Zhang, Yang.

Intra-cycle variation of the uterine cavity indentation assessed with three-dimensional ultrasound in natural and stimulated cycles Sotirios H. Saravelos,

Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis Jiandong Shen, David Stephen.

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping David Kubicek, Miroslav Hornak, Jakub Horak, Rostislav.

Stanley Paul Leibo (1937–2014): scientist, mentor and friend

Should we be promoting embryo transfer at blastocyst stage?

Stephen C. Collins, Esther Chan Reproductive BioMedicine Online

Predicting pregnancy rate following multiple embryo transfers using algorithms developed through static image analysis Yun Tian, Wei Wang, Yabo Yin,

Clinical significance of first-trimester intrauterine haematomas detected in pregnancies achieved by IVF-embryo transfer Lan Xiang, Zhaolian Wei, Juan.

Pietro Gambadauro, Ramesan Navaratnarajah

Karyomapping identifies second polar body DNA persisting to the blastocyst stage: implications for embryo biopsy Christian S. Ottolini, Shaun Rogers,

The effect of protein supplement concentration in embryo transfer medium on clinical outcome of IVF/ICSI cycles: a prospective, randomized clinical trial

Tetsuya Ishii Reproductive BioMedicine Online

The Alpha Consensus Meeting on the professional status of the clinical embryologist: proceedings of an expert meeting Reproductive BioMedicine Online

C Almeida, M Sousa, A Barros Reproductive BioMedicine Online

Elective single-embryo transfer: persuasive communication strategies can affect choice in a young British population O.B.A. van den Akker, S. Purewal

Progesterone elevation on the day of HCG administration may affect rescue ICSI Bo Huang, Zhou Li, Lixia Zhu, Dan Hu, Qun Liu, Guijin Zhu, Hanwang Zhang

Ovarian reserve screening before contraception?

Programmes and prospects for ovotechnology

Anupama Srinivasan, Diana W. Bianchi, Hui Huang, Amy J

Management of thin endometrium in assisted reproduction: a clinical practice guideline from the Canadian Fertility and Andrology Society Kimberly E.

High oestradiol concentration after ovarian stimulation is associated with lower maternal serum beta-HCG concentration and neonatal birth weight Suying.

Presentation transcript:

The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos Junmei Fan, Li Wang, Hui Wang, Minyue Ma, Shufang Wang, Zhongyu Liu, Genming Xu, Jianguang Zhang, David S. Cram, Yuanqing Yao Reproductive BioMedicine Online Volume 31, Issue 1, Pages 62-70 (July 2015) DOI: 10.1016/j.rbmo.2015.03.010 Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Array comparative genomic hybridization (CGH) and copy number variation sequencing (CNV-Seq) chromosome profiles of disease copy number variations in genomic DNA samples. Top panel (array CGH) and lower panel (CNV-Seq). (A) Unbalanced t(1;X)(q22,p11.21) translocation (mental retardation); (B) 4p15.1-pter duplication and 5p14.1-pter deletion (Cri du Chat syndrome); (C) 5p15.1-pter duplication and 5q35.2-qter deletion (Sotos syndrome). CNVs are indicated by boxes. There was a high degree of concordance for CNV detection between array CGH and CNV-Seq. Reproductive BioMedicine Online 2015 31, 62-70DOI: (10.1016/j.rbmo.2015.03.010) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 2 Copy number variation sequencing profiles of CNVs in one and five cell samples. Top panel (genomic DNA), middle panel (five cell sample) and lower panel (one cell sample). CNVs are indicated by boxes. CNV-Seq reliably and accurately detected six of the seven CNVs down to the single cell level (exception the 0.56 Mb 13q14.11 duplication in both one and five cell samples). Reproductive BioMedicine Online 2015 31, 62-70DOI: (10.1016/j.rbmo.2015.03.010) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions

Figure 3 Pathogenic copy number variations detected in two PGD embryos. (A) Sotos syndrome; (B) 7p terminal deletion syndrome. CNVs are indicated by boxes. Reproductive BioMedicine Online 2015 31, 62-70DOI: (10.1016/j.rbmo.2015.03.010) Copyright © 2015 Reproductive Healthcare Ltd. Terms and Conditions