Journal Articles & Research

Below are links for downloading journal articles and papers published by AdvaGenix of possible interest to reproductive endocrinologists, scientists and health care providers in various reproductive medicine specialties.


  • “Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?”

    Journal of Assisted Reproduction and Genetics

    Volume 33, Number 6, June 2016

    Purpose
    The purpose of the review was to define the various diagnostic platforms currently available to perform preimplantation genetic testing for aneuploidy and describe in a clear and balanced manner the various strengths and weaknesses of these technologies.


  • “Blastocoel Fluid from Differentiated Blastocysts Harbors Embryonic Genomic Material Capable of a Whole-Genome Deoxyribonucleic Acid Amplification and Comprehensive Chromosome Microarray Analysis”

    Fertility and Sterility

    Volume 104, Number 2, August 2015

    This study found that genomic DNA located in the blastocoel fluid of an embryo could be characterized using chromosome microarray analysis. The karyotypes from the blastocoel fluid had differences from the karyotypes of the inner cell mass (ICM) and trophectoderm (TE) of the blastocyst. It is advised to avoid using DNA found in the blastocoel fluid for identifying genetic defects in embryos.


  • “Single-Gene Testing Combined with Single Nucleotide Polymorphism Microarray Preimplantation Genetic Diagnosis for Aneuploidy: A Novel Approach in Optimizing Pregnancy Outcome”

    Fertility and Sterility

    Volume 95, Number 5, April 2011

    Preimplantation genetic testing promises to improve pregnancy rates when coupled with IVF. By removing a cell(s) from an embryo at the blastocyst stage (3-5 days after fertilization), geneticists are able to simultaneously test for single-gene disorders and aneuploidy. These tests ensure that only the healthiest embryos are transferred into the mother’s uterus, making them more likely to implant and the mother to have a successful pregnancy.


  • “Two Different Microarray Technologies for Preimplantation Genetic Diagnosis and Screening, Due to Reciprocal Translocation Imbalances, Demonstrate Equivalent Euploidy and Clinical Pregnancy Rates”

    Journal of Assisted Reproductive Genetics

    Volume 31, April 26, 2014

    Study demonstrated that in PGD/PGS testing, both SNP and aCGH microarrays show comparable ploidy results that are more accurate than limited FISH testing.


  • “The Evolving Role of Genetics in Reproductive Medicine”

    Obstetrics and Gynecology Clinics

    Volume 41, Issue 1, March 2014

    Genetic testing is becoming a more common procedure in reproductive medicine. Whether performed pre conception, pre implantation, in utero or after fetal demise, genetic testing is typically used to prevent the passing of a genetic disease from parent to child. As use of genetic testing becomes a regular event, it is the responsibility of clinicians to ensure that all testing is used in a responsible, equitable and ethical manner.


  • “Efficient Differentiation of Steroidogenic and Germ-Like Cells from Epigenetically-Related iPSCs Derived from Ovarian Granulosa Cells”

    PLOS One

    Volume 10, Issue 3, March 9, 2015

    Tissue-specific iPSCs, such as ovarian GC-derived iPSCs, show biased functional differentiation of the originating tissue type, supporting the hypothesis for epigenetic-mediated mechanisms of homotypic differentiation of iPSCs. This approach may prove useful when applied to specific targeted tissue derivation for use in stem cell-based therapies. This exciting research between collaborators at Harvard and Hopkins suggests that sperm and eggs might be able to be derived from one’s own stem cells.


  • “Cellular and Genetic Analysis of Oocytes and Embryos in A Human Case of Spontaneous Oocyte Activation”

    Human Reproduction

    Volume 26, Number 3, January 2011

    Spontaneous oocyte activation was found to be a cause for recurrent pregnancy loss.


  • “Aneuploidy Frequencies in Semen Fractions from Ten Oligoasthenoteratozoospermic (OAT) Patients Donating Sperm for Intracytoplasmic Sperm Injection”

    Fertility and Sterility

    Volume 72, Number 3, September 1999

    Chromosome aneuploidy levels in patients with OAT, which is the presence of a very low sperm count, abnormally shaped sperm and poor moving sperm in one specimen, were significantly higher than in the control group of average, fertile men. Patients with OAT may be at an increased risk for producing children with aneuploidy, specifically sex chromosome abnormalities.


  • "Preimplantation genetic testing for aneuploidy: what technology should you use and what are the differences?"

    Journal of Assisted Reproduction and Genetics

    July 2016, Volume 33, Issue 7, Pages 823–832

    The purpose of the review was to define the various diagnostic platforms currently available to perform preimplantation genetic testing for aneuploidy and describe in a clear and balanced manner the various strengths and weaknesses of these technologies.


  • “Does the FMR1 gene affect IVF success?”

    RBMO

    April 2019 Volume 38, Issue 4, Pages 560–569

    FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1 CGG repeat lengths on IVF outcomes after ovarian stimulation was reviewed. PubMed was searched for studies on IVF-related outcomes reported by FMR1 trinucleotide repeat length published between 2002 and December 2017. For women with CGG repeats in the normal (<45 CGG), intermediate range (45–54 CGG), or both, research supports a minimal effect on IVF outcomes, including pregnancy rates; although one study reported lower oocyte yields after IVF stimulation in women with lower CGG repeat lengths and normal ovarian reserve. Meta-analysis revealed no association within subcategories of normal repeat length (<45 CGG) and IVF pregnancy rates (summary OR 1.0, 95% CI 0.87 to 1.15). Premutation carriers (CGG 55–200) may have reduced success with IVF treatment (lower oocyte yield) than women with a normal CGG repeat length or a full mutation, although findings are inconsistent. Direct implications of the repeat length on inheritance and the risk of Fragile X syndrome have been observed. Patients may require clinical and psychological counselling, and further preimplantation genetic testing options should be considered. Thus, there are clinical and psychological counseling implications for patients and potential further patient decisions regarding preimplantation genetic testing options.