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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.

Abstract：

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.

journal_name

Mol Cytogenet

journal_title

Molecular cytogenetics

authors

Ou J,Wang W,Feng T,Liao L,Meng Q,Zou Q,Ding J,Zheng A,Duan C,Li P,Liu Q,Lin C,Li H

doi

10.1186/s13039-015-0207-7

subject

Has Abstract

pub_date

2015-12-30 00:00:00

pages

105

issn

1755-8166

pii

207

journal_volume

8

pub_type

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