Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers

Tan, Yue‐Qiu; Tan, Ke; Zhang, S.-P.; Gong, Fei; Cheng, Dehua; Xiong, Bo; Lu, Can‐Zhong; Tang, Xiaoning; Luo, Keli; Lin, Ge; Lu, Guangxiu

doi:10.1093/humrep/det271

Cited by 93 publications

(68 citation statements)

References 27 publications

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“…The percentage of normal chromosomes determined in this study is consistent with that of normal chromosomes in fresh biopsy cycles (42.3%) reported in our previous study (19). Therefore, it can be said that the test-failure blastocysts still have a high percentage of normal chromosomes.…”

Section: Discussionsupporting

confidence: 91%

Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening

Zhang

Tan

Gong

et al. 2014

Fertility and Sterility

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Section: Discussionsupporting

confidence: 91%

Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening

Zhang

Tan

Gong

et al. 2014

Fertility and Sterility

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“…Preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) (Conn et al 1998, Van Assche et al 1999, Coonen et al 2000, Alves et al 2002, Otani et al 2006, Bernicot et al 2010, Bernicot et al 2012, Ko et al 2013 and microarray-based profiling , Fiorentino et al 2011, Treff et al 2011, van Uum et al 2012, Huang et al 2013, Tan et al 2013 are widely used to select normal/balanced embryos for CR carriers to transfer.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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Balanced chromosomal rearrangements (CRs) are among the most common genetic abnormalities in humans. In the present study, we have investigated the degree of consistency between the chromosomal composition of the blastocyst inner cell mass (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been previously addressed. As a secondary aim, we have also evaluated the validity of cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE were screened for chromosomal aneuploidy and imbalance of CR-associated chromosomes based on whole-genome copy number variation analysis by low-coverage next-generation sequencing (NGS) following single-cell wholegenome amplification by multiple annealing and looping-based amplification cycling. The NGS results were analyzed without knowledge of cleavage-stage FISH results. NGS results for blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 1702 (37!46) chromosomes examined, 99.47% (1693/1702) showed consistency. However, only 40.0% (18/45) of all embryos had consistent results for chromosomes involved in CR, as determined by blastocyst NGS and cleavage-stage FISH. Of the 85 CR-affected chromosomes analyzed by FISH, 37.65% (32/85) were incongruous with NGS results, with 87.5% (28/32) showing imbalanced composition by FISH but balanced composition by NGS. These results indicate that chromosomal composition of blastocyst ICM and TE in balanced CR carriers is highly consistent, and that PGD based on cleavage-stage FISH is inaccurate; therefore, using blastocyst TE biopsies for NGS-based PGD is recommended for identifying chromosomal imbalance in embryos from balanced CR carriers.

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“…FISH is also used to determine translocations. However, this field of study has now been successfully replaced by methods that are more reliable and precise, such as SNP [16] and NGS [17].…”

Section: Fluorescent In Situ Hybridization (Fish)mentioning

confidence: 99%

“…As a result of the combined activities of a research team, a high implantation rate and low miscarriage rate was observed in infertile couples [30]. Studies with SNP platforms were also conducted on diagnosis of balanced, unbalanced and Robertsonian translocations, and good outcomes were observed [16].…”

Section: Single Nucleotide Polymorphism (Snp) Analysismentioning

confidence: 99%

Current methods for preimplantation genetic diagnosis

Liss¹,

Chromik²,

Szczyglińska³

et al. 2016

Ginekol Pol

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Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used.

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Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers

Abstract: The adoption of SNP-PGD combined with TE biopsy and FET may significantly improve the clinical pregnancy rate, and decrease the miscarriage rate after PGD for translocation carriers.

Cited by 93 publications

References 27 publications

Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening

Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Current methods for preimplantation genetic diagnosis

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