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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.
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One couple with normal cytogenetic and array CGH result suffered from implantation failure.The other couple with normal cytogenetic and array CGH result also received NGS analysis.The NGS approach is a reliable alternative to array CGH for the discovery of small segmental translocations in patients with RIF and RM.
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PubMed Central - PubMed
Affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
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. No MeSH data available. Related in: MedlinePlus |
![Case 1. 1a: PGS profile of array CGH was normal; 1b: The MLPA result of the fifth abortion sample was 9p+,13q-; 1c: The NGS result was 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) (indicated by red circle); 1d: The G banding karyotyping of 550 bands showed no obvious structural abnormality; 1e: FISH showed reciprocal translocation in the male chromosome. Tel 9p: green; Tel 9q: orange; LSI 13 (RB1): orange](/imgs/512/140/4696251/PMC4696251_13039_2015_207_Fig1_HTML.png)
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Fig1: Case 1. 1a: PGS profile of array CGH was normal; 1b: The MLPA result of the fifth abortion sample was 9p+,13q-; 1c: The NGS result was 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) (indicated by red circle); 1d: The G banding karyotyping of 550 bands showed no obvious structural abnormality; 1e: FISH showed reciprocal translocation in the male chromosome. Tel 9p: green; Tel 9q: orange; LSI 13 (RB1): orange Mentions: The patient received transfer of normal embryo as indicated by array CGH PGS (Fig. 1a). However, the pregnancy test was negative. The MLPA result showed that the 9p probe was duplicated, and the 13q probe was deleted in the fifth abortion sample (Fig. 1b). The DNA sample for array CGH assay was reanalyzed by NGS, which revealed 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) (Fig. 1c). G banding karyotyping of 550 bands also showed no obvious structural abnormality (Fig. 1d). FISH analysis with Tel 9p, Tel 9q and LSI 13 probes confirmed the existence of the reciprocal translocation in the male chromosome as 46,XY,t(9;13)(p24.1;q33.1). (Figure 1e).Fig. 1 |
View Article: PubMed Central - PubMed
Affiliation: Center of reproduction and genetics Suzhou Municipal Hospital, Suzhou, Jiangsu P.R.China.
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.
No MeSH data available.
