Preimplantation genetic screening 2 0 An evolving and promising technique

Wednesday, May 4, 2016

Authors:
David Roy Meldrum, M.D., H.…

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Is oocyte meiotic spindle morphology associated with embryo ploidy A prospective cohort study

Friday, April 1, 2016
This study demonstrates for the first time that oocytes with normal spindle morphology are more likely to produce euploid embryos compared with oocytes with translucent or no visible meiotic spindles.

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Obstetric and neonatal outcomes in blastocyst stage biopsy with frozen embryo transfer and cleavage-stage biopsy with fresh embryo transfer after preimplantation genetic diagnosis screening

Monday, February 29, 2016

Authors:
Shuang Jing, M.Sc., Keli Luo, M.D., Ph.D., Hui He, M.Sc., Changfu Lu, Ph.D., Shuoping Zhang, M.D., Yueqiu Tan, Ph.D., Fei Gong, M.D., Ph.D., Guangxiu Lu, M.D., Ge Lin, M.D., Ph.D.…

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Effectiveness of in vitro fertilization with preimplantation genetic screening A reanalysis of United States assisted reproductive technology data 2011 2012

Monday, February 15, 2016

Authors:
Vitaly A. Kushnir, M.D., Sarah K.…

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Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification

Monday, February 1, 2016
This study establishes a method for simultaneous comprehensive chromosomal aneuploidy screening and preimplantation genetic diagnosis for single gene disorders from the same trophectoderm biopsy using quantitative real-time polymerase chain reaction.

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Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the Unites States Assisted Reproductive Technology Surveillance Data 2011 2012

Monday, February 1, 2016
Preimplantation genetic diagnosis for aneuploidy screening may be beneficial for reducing the risk of miscarriage in women aged 35 and improving chances of a live birth in women >37 years.

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New approaches for multifactor preimplantation genetic diagnosis of monogenic diseases and aneuploidies from a single biopsy

Monday, February 1, 2016

Authors:
Antonio Capalbo, Ph.D., Laura Rienzi, M.Sc., Filippo Maria Ubaldi, M.D., M.Sc.…

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Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts

Thursday, October 29, 2015
A validation study on 47 embryonic trophectoderm samples demonstrates that shallow whole genome sequencing is a preferable alternative for array comparative genomic hybridization in detecting structural and numerical chromosomal rearrangements in preimplantation genetic diagnosis.

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Routine use of next generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles

Monday, March 30, 2015
In a prospective trial, use of semiconductor-based NGS for PGD was found to provide a significant advantage in improving pregnancy rate.

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Simultaneous assessment of aneuploidy polymorphisms and mitochondrial DNA content in human polar bodies and embryos with the use of a novel microarray platform

Monday, July 14, 2014
A novel microarray platform was developed offering the possibility of combined aneuploidy screening, genetic fingerprinting, and mitochondrial DNA (mtDNA) assessment of embryos. Associations between mtDNA and maternal age are reported.

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Neonatal outcome after preimplantation genetic diagnosis

Monday, June 16, 2014
In 242 preimplantation genetic diagnoses, 242 intracytoplasmic sperm injections, and 733 spontaneous pregnancies, prematurity was more common after ICSI or PGD; intrauterine growth restriction was more common only after ICSI.

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Next generation sequencing The dawn of a new era for preimplantation genetic diagnostics

Wednesday, April 30, 2014
Reflections on "Development and validation of a next-generation sequencing–based protocol for 24-chromosome aneuploidy screening of embryos" by Fiorentino et al.

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Uniparental disomy in the human blastocyst is exceedingly rare

Tuesday, December 31, 2013
The exceedingly low prevalence of uniparental disomy (UPD) indicates that routine preimplantation screening may not be necessary and that UPD is not a reasonable explanation to support hypothesized embryonic self-correction.

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Selecting the optimal time to perform biopsy for preimplantation genetic testing

Friday, August 30, 2013
Contemporary biopsy for preimplantation genetic testing is most safely and effectively accomplished via trophectoderm biopsy at the blastocyst stage.

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Cleavage stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not A randomized and paired clinical trial

Tuesday, April 9, 2013
A paired randomized trial demonstrated a 39% relative reduction in implantation rates of embryos after cleavage-stage biopsy. In contrast, blastocyst biopsy had no adverse effect.

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Next generation sequencing for preimplantation genetic diagnosis

Thursday, March 28, 2013
Reflections on "Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease" by Treff et al.

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Preimplantation genetic diagnosis outcomes and meiotic segregation analysis of robertsonian translocation carriers

Thursday, March 28, 2013
The rate of alternate embryos can be affected by the sex of the robertsonian translocation carrier, and aneuploidy of chromosome 18 was significantly (P<.001) increased in 3:0-segregated or chaotic embryos.

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Evaluation of targeted next generation sequencing based preimplantation genetic diagnosis of monogenic disease

Thursday, March 28, 2013
A methodology of next-generation sequencing was developed for preimplantation genetic diagnosis and found to be highly consistent with two independent methods of single-gene disorder screening.

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Four hour quantitative real time polymerase chain reaction based comprehensive chromosome screening and accumulating evidence of accuracy safety predictive value and clinical efficacy

Monday, March 18, 2013
This review summarizes the accumulated experience with the development and clinical application of a 4-hour blastocyst quantitative real-time polymerase chain reaction–based comprehensive chromosome screening technology.

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Preimplantation genetic diagnosis A systematic review of litigation in the face of new technology

Thursday, November 1, 2012
The IVF facilities providing PGD services expose themselves to liability for misdiagnosis. Conducting the procedure in a competent manner and providing proper informed consent may deter litigation.

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Blastocyst preimplantation genetic diagnosis PGD of a mitochondrial DNA disorder

Thursday, November 1, 2012
Blastocyst PGD of mutation load and gender was applied for the first time. Results demonstrate that the trophectoderm is predictive of inner cell mass and newborn mutation loads and that simultaneous gender selection can be used to reduce the transgenerational risk of inheritance.

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Origins and rates of aneuploidy in human blastomeres

Friday, May 25, 2012
Characterization of ploidy errors in 274 blastomeres using a novel informatics-based technique revealed aneuploidy profiles with unprecedented detail, including identifying parental origin of aneuploidy and differentiating mitotic from meiotic errors.

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Intra-age, intercenter, and intercycle differences in chromosome abnormalities in oocytes

Friday, May 11, 2012
High intra-age, intercycle, and intercenter variation in oocyte aneuploidy was observed in first polar body chromosome analysis of oocyctes.

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