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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.

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 - Mol Cytogenet (2015)

Bottom Line: 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.

View Article: 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 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS 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) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1; 2e: The G banding karyotyping of 550 bands showed 46,XX,t(4; 6)(q34.3;p22.3); 2f: FISH showed reciprocal translocation of female chromosome. Tel 4q: orange; CEP4: Aqua; Tel 6p: green
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Fig2: Case 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS 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) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1; 2e: The G banding karyotyping of 550 bands showed 46,XX,t(4; 6)(q34.3;p22.3); 2f: FISH showed reciprocal translocation of female chromosome. Tel 4q: orange; CEP4: Aqua; Tel 6p: green

Mentions: The array CGH PGS results showed normal (Fig. 2a) but the NGS result of the same sample 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), (Fig. 2b). To clarify the discrepancy, result of array CGH for the second abortion product was found to be 46,XY.arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1 (Fig. 2c,d). Further G banding karyotyping of 550 bands showed 46,XX,t(4;6)(q34.3;p22.3) of the female (Fig. 2e). Tel 4q, CEP4 and Tel 6p three FISH probes further verify the existence of the reciprocal translocation of female chromosome (Fig. 2f) (Table 1).Fig. 2


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.

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 - Mol Cytogenet (2015)

Case 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS 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) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1; 2e: The G banding karyotyping of 550 bands showed 46,XX,t(4; 6)(q34.3;p22.3); 2f: FISH showed reciprocal translocation of female chromosome. Tel 4q: orange; CEP4: Aqua; Tel 6p: green
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4696251&req=5

Fig2: Case 2. 2a: PGS profile by array CGH was normal; 2b: PGS by NGS 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) (indicated by red circle); 2c, 2d: The array CGH result of the second abortion sample was arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1; 2e: The G banding karyotyping of 550 bands showed 46,XX,t(4; 6)(q34.3;p22.3); 2f: FISH showed reciprocal translocation of female chromosome. Tel 4q: orange; CEP4: Aqua; Tel 6p: green
Mentions: The array CGH PGS results showed normal (Fig. 2a) but the NGS result of the same sample 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), (Fig. 2b). To clarify the discrepancy, result of array CGH for the second abortion product was found to be 46,XY.arr 4q34.3-q35.2 (179,554,876-190,864,789) × 3, 6p25.3-p22.3(347,038-17,543,199) × 1 (Fig. 2c,d). Further G banding karyotyping of 550 bands showed 46,XX,t(4;6)(q34.3;p22.3) of the female (Fig. 2e). Tel 4q, CEP4 and Tel 6p three FISH probes further verify the existence of the reciprocal translocation of female chromosome (Fig. 2f) (Table 1).Fig. 2

Bottom Line: 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.

View Article: 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