Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy—the future of IVF?

Fishel, Simon; Gordon, Alexander; Lynch, Colleen; Dowell, Ken; Ndukwe, George; Kelada, Ehab; Thornton, Simon; Jenner, Lucy; Cater, E.; Brown, Anthony P.; Garcia‐Bernardo, José

doi:10.1016/j.fertnstert.2009.09.055

Cited by 84 publications

(55 citation statements)

References 19 publications

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“…Once at Genesis Genetics (Detroit, MI), single blastomeres were amplified using the BlueGnome SurePlex whole genome amplification kit (Illumina, San Diego), amplified DNA was labelled and hybridised as described previously [8] onto BlueGnome 24sure V3 BAC microrrays. Microarrays were washed, scanned and single channel images imported into BlueGnome BlueFuse software.…”

Section: Methodsmentioning

confidence: 99%

Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages

Keltz

Vega

Sirota

et al. 2013

J Assist Reprod Genet

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Purpose To determine benefits of cleavage-stage preimplantation genetic screening (PGS) by array comparative genomic hybridization (CGH). Methods A retrospective case-control study was performed at a tertiary care university-affiliated medical center. Implantation rate was looked at as a primary outcome. Secondary outcomes included clinical and ongoing pregnancy rates, as well as multiple pregnancy and miscarriage rates. Thirty five patients underwent 39 fresh cycles with PGS by aCGH and 311 similar patients underwent 394 invitro fertilization cycles. Result(s) The implantation rate in the CGH group doubled when compared to the control group (52.63 % vs. 19.15 %, p=<0.001), clinical pregnancy rate was higher (69.23 % vs. 43.91 %, p=0.0002), ongoing pregnancy rate almost doubled (61.54 % vs. 32.49 %, p=<0.0001), multiple pregnancy rate decreased (8.33 % vs. 34.38 %, p=0.0082) and miscarriage rate trended lower (11.11 % vs. 26.01 %, p=0.13). Conclusion Cleavage stage PGS with CGH is a feasible and safe option for aneuploidy screening that shows excellent outcomes when used in fresh cycles. This is the first report of cleavage stage PGS by CGH showing improved ongoing pregnancy rates.

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Section: Methodsmentioning

confidence: 99%

Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages

Keltz

Vega

Sirota

et al. 2013

J Assist Reprod Genet

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“…More recently, two new testing platforms have come into use, microarray CGH (array-CGH (aCGH)) [96][97][98][99] and single nucleotide polymorphism (SNP) microarrays. [100][101][102][103] These testing platforms allow for comprehensive chromosomal analysis of single cells from day-3 biopsy and yield results in 24 h. The rapid turnaround time for these methods eliminates the need to cryopreserve embryos, while testing is carried out.…”

Section: Array-based Testing Of Aneuploidymentioning

confidence: 99%

Chromosomal disorders and male infertility

Harton¹,

Tempest²

2011

Asian J Androl

148

131

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Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically: chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis (PGD) in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

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“…These samples are then allowed to hybridize to a tiling path microarray and the colour ratio is determined in order to identify whole or segmental chromosome copy number differences within the test sample. Therefore, aCGH allows for aneuploidy screening as well as identification of deletions and duplications of specific chromosomal regions [80][81][82][83]. In parallel to the development of aCGH, a general shift in preference for the timing of biopsy from the cleavage to the trophectoderm stage (and less commonly to the polar body stage) has largely brought about a renaissance in PGS, however the technology cannot detect a loss or gain of an entire set of chromosomes (e.g.…”

Section: Detection Of Chromosome Copy Numbermentioning

confidence: 99%

Karyomapping and how is it improving preimplantation genetics?

Gould

Griffin

2017

Expert Review of Molecular Diagnostics

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Introduction: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different.Areas Covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review.Expert Commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.

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Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy—the future of IVF?

Cited by 84 publications

References 19 publications

Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages

Preimplantation Genetic Screening (PGS) with Comparative Genomic Hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages

Chromosomal disorders and male infertility

Karyomapping and how is it improving preimplantation genetics?

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