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

作者：Jian Ou, Wei Wang, Tao Feng, Lianming Liao, Qingxia Meng, Qinyan Zou, Jie Ding, Aiyan Zheng, Chengying Duan, Peipei Li, Qiang Liu, Chunhua Lin, Hong Li · 发表于：Molecular Cytogenetics · 年份：2015 · DOI：10.1186/s13039-015-0207-7 · 被引用次数：19 · 研究领域：Prenatal Screening and Diagnostics、Genomic variations and chromosomal abnormalities、Reproductive System and Pregnancy

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.