Identification of small segmental translocations in patients with repeated implantation failure and recurrent miscarriage using next generation sequencing after in vitro fertilization/intracytoplasmic sperm injection

Molecular Cytogenetics

Hong Li²  Chunhua Lin²  Qiang Liu²  Peipei Li²  Chengying Duan²  Aiyan Zheng²  Jie Ding²  Qinyan Zou²  Qingxia Meng²  Lianming Liao¹  Tao Feng³  Wei Wang²  Jian Ou² 

[1] Central Laboratory, The Union Hospital of Fujian Medical University, Fuzhou, Fujian, P.R.China;Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu, P.R.China;Peking Jabrehoo Med Tech., Ltd, Beijing, P.R.China

关键词: Translocation;    RM;    RIF;    PGS;    Array CGH;    NGS;   

Others  :  1235196
DOI  :  10.1186/s13039-015-0207-7

 received in 2015-10-16, accepted in 2015-12-18,  发布年份 2015

【 摘 要 】

Background

To develop a novel preimplantation genetic screening (PGS) test using next generation sequencing(NGS) as a alternative to current array comparative genomic hybridization (array CGH) method for detection of small segmental translocations in two patients with repeated implantation failure (RIF) and recurrent miscarriage (RM). Inconsistent results were resolved by validation with fluorescence in situ hybridization (FISH).

Case Presentation

One couple with normal cytogenetic and array CGH result suffered from implantation failure. Later NGS analysis showed 46,XY.ngs[GRCh37/hg19] 9p24.3-9p24.1(10,291-8,680,890×1),13q33.1-13q34(103,046,327-114,785,444×3). The other couple with normal cytogenetic and array CGH result also received NGS analysis. Due to the detected abnormal finding, which was 46,XY.ngs 4q34.3-4q35.2(179,673,982-191,016,503×3),6p25.3-6p22.3 (146,672-17,829,693×1), the couple decided against the corresponding embryo transfer.

Conclusions

The NGS approach is a reliable alternative to array CGH for the discovery of small segmental translocations in patients with RIF and RM.

【 授权许可】

   
2015 Ou et al.

【 图 表 】

Fig. 1.

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