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.


  • "Reproductive ovarian testing and the alphabet soup of diagnoses: DOR, POI, POF, POR, and FOR"

    Journal of Assisted Reproduction and Genetics

    January 2018, Volume 35, Issue 1, Pages 17–23

    There are large variations in the number of oocytes within each woman, and biologically, the total quantity is at its maximum before the woman is born. Scientific knowledge is limited about factors controlling the oocyte pool and how to measure it. Within fertility clinics, there is no uniform agreement on the diagnostic criteria for each common measure of ovarian reserve in women, and thus, studies often conflict. While declining oocyte quantity/quality is a normal physiologic occurrence as women age, some women experience diminished ovarian reserve (DOR) much earlier than usual and become prematurely infertile. Key clinical features of DOR are the presence of regular menstrual periods and abnormal-but-not-postmenopausal ovarian reserve test results. A common clinical challenge is counseling patients with conflicting ovarian reserve test results. The clinical diagnosis of DOR and the interpretation of ovarian reserve testing are complicated by changing lab testing options and processing for anti-mullerian hormone since 2010. Further, complicating the diagnostic and research scenario is the existence of other distinct yet related clinical terms, specifically premature ovarian failure, primary ovarian insufficiency, poor ovarian response, and functional ovarian reserve. The similarities and differences between the definitions of DOR with each of these four terms are reviewed. We recommend greater medical community involvement in terminology decisions, and the addition of DOR-specific medical subject-heading search terms.


  • “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.