Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing

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• 作者：Yueqiu Tan (1) (5) (6)
  Xuyang Yin (3) (4) (7)
  Shuoping Zhang (1) (6) (8)
  Hui Jiang (11) (4) (7)
  Ke Tan (1) (5)
  Jian Li (2)
  Bo Xiong (6)
  Fei Gong (1) (6)
  Chunlei Zhang (4) (7)
  Xiaoyu Pan (14) (4) (7)
  Fang Chen (16) (4) (7)
  Shengpei Chen (15) (4) (7)
  Chun Gong (2)
  Changfu Lu (1) (6)
  Keli Luo (1) (6)
  Yifan Gu (1) (6)
  Xiuqing Zhang (7)
  Wei Wang (3) (4)
  Xun Xu (2)
  G谩bor Vajta (2) (9)
  Lars Bolund (10) (2)
  Huanming Yang (12) (13) (2)
  Guangxiu Lu (1) (5) (6) (8)
  Yutao Du (3)
  Ge Lin (1) (5) (6) (8)
  
  1. Institute of Reproductive and Stem Cell Engineering ; Central South University ; Changsha ; China
  5. National Engineering and Research Center of Human Stem Cell ; Changsha ; China
  6. Reproductive & Genetic Hospital of CITIC Xiangya ; Changsha ; China
  3. BGI-Health ; BGI-Shenzhen ; Shenzhen ; China
  4. Shenzhen Municipal Birth Defect Screening Project Lab ; BGI-Shenzhen ; Shenzhen ; China
  7. Guangdong Enterprise Key Laboratory of Human Disease Genomics ; BGI-Shenzhen ; Shenzhen ; China
  8. Key Laboratory of Stem Cell and Reproductive Engineering ; Ministry of Health ; Changsha ; China
  11. Department of Biology ; University of Copenhagen ; Copenhagen ; Denmark
  2. BGI-ShenZhen ; ShenZhen ; China
  14. School of Bioscience and Bioengineering ; South China University of Technology ; Guangzhou ; China
  16. Section of Molecular Disease Biology ; Department of Veterinary Disease Biology ; Faculty of Health and Medical Sciences ; University of Copenhagen ; Copenhagen ; Denmark
  15. State Key Laboratory of Bioelectronics ; School of Biological Science and Medical Engineering ; Southeast University ; Nanjing ; China
  9. Central Queensland University ; Rockhampton ; Queensland ; Australia
  10. Department of Biomedicine ; Aarhus University ; Aarhus ; Denmark
  12. Prince Aljawhra Center of Excellence in Research of Hereditary Disorders ; King Abdulaziz University ; Jeddah ; Saudi Arabia
  13. James D Watson Institute of Genome Science ; Hangzhou ; China
  
• 关键词：Preimplantation genetic diagnosis/screening ; Next generation sequencing ; Blastocyst ; Cryopreserved embryo transfer ; Clinical outcome
• 刊名：GigaScience
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：3
• 期：1
• 全文大小：298 KB
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• 刊物主题：Bioinformatics; Computational Biology/Bioinformatics; Computer Appl. in Life Sciences; Proteomics; Data Mining and Knowledge Discovery;
• 出版者：BioMed Central
• ISSN：2047-217X

文摘

Background Next generation sequencing (NGS) is now being used for detecting chromosomal abnormalities in blastocyst trophectoderm (TE) cells from in vitro fertilized embryos. However, few data are available regarding the clinical outcome, which provides vital reference for further application of the methodology. Here, we present a clinical evaluation of NGS-based preimplantation genetic diagnosis/screening (PGD/PGS) compared with single nucleotide polymorphism (SNP) array-based PGD/PGS as a control. Results A total of 395 couples participated. They were carriers of either translocation or inversion mutations, or were patients with recurrent miscarriage and/or advanced maternal age. A total of 1,512 blastocysts were biopsied on D5 after fertilization, with 1,058 blastocysts set aside for SNP array testing and 454 blastocysts for NGS testing. In the NGS cycles group, the implantation, clinical pregnancy and miscarriage rates were 52.6% (60/114), 61.3% (49/80) and 14.3% (7/49), respectively. In the SNP array cycles group, the implantation, clinical pregnancy and miscarriage rates were 47.6% (139/292), 56.7% (115/203) and 14.8% (17/115), respectively. The outcome measures of both the NGS and SNP array cycles were the same with insignificant differences. There were 150 blastocysts that underwent both NGS and SNP array analysis, of which seven blastocysts were found with inconsistent signals. All other signals obtained from NGS analysis were confirmed to be accurate by validation with qPCR. The relative copy number of mitochondrial DNA (mtDNA) for each blastocyst that underwent NGS testing was evaluated, and a significant difference was found between the copy number of mtDNA for the euploid and the chromosomally abnormal blastocysts. So far, out of 42 ongoing pregnancies, 24 babies were born in NGS cycles; all of these babies are healthy and free of any developmental problems. Conclusions This study provides the first evaluation of the clinical outcomes of NGS-based pre-implantation genetic diagnosis/screening, and shows the reliability of this method in a clinical and array-based laboratory setting. NGS provides an accurate approach to detect embryonic imbalanced segmental rearrangements, to avoid the potential risks of false signals from SNP array in this study.