Human Gametes and Preimplantation Embryos
Assessment and Diagnosis
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Open AccessThe role of declining ataxia-telangiectasia-mutated (ATM) function in oocyte aging
Despite the advances in the understanding of reproductive physiology, the mechanisms underlying ovarian aging are still not deciphered. Recent research found an association between impaired ATM-mediated DNA do...
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Sperm Mitochondrial DNA Copy Number Is Not a Predictor of Intracytoplasmic Sperm Injection (ICSI) Cycle Outcomes
This study is to determine if sperm mitochondrial DNA copy number (mtDNA CN) is associated with fertilization, blastulation, blastocyst euploidy, and live birth rates in in vitro fertilization (IVF) with ICSI ...
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Open AccessThe BCL-2 pathway preserves mammalian genome integrity by eliminating recombination-defective oocytes
DNA double-strand breaks (DSBs) are toxic to mammalian cells. However, during meiosis, more than 200 DSBs are generated deliberately, to ensure reciprocal recombination and orderly segregation of homologous ch...
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Erratum: Genome editing reveals a role for OCT4 in human embryogenesis
Nature 550, 67–73 (2017); doi:10.1038/nature24033 In this Article, the received date appeared wrongly in the advance online publication (AOP) version as 12 June 2016 rather than 12 June 2017. This error was co...
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Genome editing reveals a role for OCT4 in human embryogenesis
Despite their fundamental biological and clinical importance, the molecular mechanisms that regulate the first cell fate decisions in the human embryo are not well understood. Here we use CRISPR–Cas9-mediated ...
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Analysis of implantation and ongoing pregnancy rates following the transfer of mosaic diploid–aneuploid blastocysts
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in IVF and aims to improve outcomes by avoiding aneuploid embryo transfers. Chromosomal mosaicism is extremely common in early development ...
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Correction: Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
Nature 534, 383–386 (2016); doi:10.1038/nature18303 We wish to clarify the statistical methods used in this Letter. Owing to the limited number of observations, blastocyst quality in Fig. 2d was analysed by po...
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Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease
Preclinical evaluation and optimization of mitochondrial replacement therapy reveals that a modified form of pronuclear transfer is likely to give rise to normal pregnancies with a reduced risk of mitochondria...
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Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy
MTHFR is an important enzyme in the metabolism of folic acid and is crucial for reproductive function. Variation in the sequence of MTHFR has been implicated in subfertility, but definitive data are lacking. In t...
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Open AccessKaryomap**—a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome
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Current and Future Preimplantation Genetic Screening (PGS) Technology: From Arrays to Next-Generation Sequencing
Aneuploidy is a broad term used to describe gross chromosomal imbalance in an organism. For the sake of this chapter, only aneuploidy in an embryo will be considered. Aneuploidy typically presents as either an...
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The origin and impact of embryonic aneuploidy
Despite the clinical importance of aneuploidy, surprisingly little is known concerning its impact during the earliest stages of human development. This study aimed to shed light on the genesis, progression, an...
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Microarray-CGH for the Assessment of Aneuploidy in Human Polar Bodies and Oocytes
The cytogenetic analysis of single cells, such as oocytes and polar bodies, is extremely challenging. The main problem is low probability of obtaining a metaphase preparation in which all of the chromosomes ar...
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Successful Live Birth following Preimplantation Genetic Diagnosis for Phenylketonuria in Day 3 Embryos by Specific Mutation Analysis and Elective Single Embryo Transfer
Phenylketonuria (PKU) is an autosomal recessive inherited metabolic disorder caused by a complete or near-complete deficiency of the liver enzyme phenylalanine hydroxylase (PAH), which converts the amino acid ...
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Use of Comparative Genomic Hybridisation (CGH) and Microarray-CGH for Preimplantation Genetic Screening
It has been known for many decades that chromosomal aneuploidies are responsible for more than half of all spontaneous miscarriages and still births (Ann Hum Genet 44:151–178, 1980; Oxf Rev Reprod Biol 6:1–46,...
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Transcriptomic Analysis of Cumulus and Granulosa Cells as a Marker of Embryo Viability
As well as contributing the female genetic component to the develo** embryo, oocytes also provide a store of mRNAs, proteins and other resources needed to sustain the embryo through the first few mitoses, un...
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Single Nucleotide Polymorphisms and Next Generation Sequencing
Single cell analysis for preimplantation genetic diagnosis (PGD) of single gene defects was first used to identify the sex of embryos in a series of couples at risk of various X-linked conditions, which typica...
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Preimplantation Genetic Diagnosis of Inherited Cancer: Familial Adenomatous Polyposis Coli
Purpose: Our purpose was to achieve preimplantation genetic diagnosis (PGD) of the dominant cancer predisposition syndrome, familial adenomatous polyposis coli (FAPC), as an alter...
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Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization
Our purpose was to assess the clinical application of dual fluorescent in situhybridization (FISH) for the diagnosis of sex in the human preimplantation embryo.
