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.

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“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.

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“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.

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“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.

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“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.

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“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.

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“New Horizons in Clinical Genetics – Next Generation Sequencing – Preimplantation Genetic Diagnosis (PGD) and Screening (PGS)”

Presented by Advagenix

Advances in clinical genetics have decreased misdiagnosis rates in embryos. These advances include Next Generation DNA sequencing (NGS), applications of PCR and improved Whole Genome Amplification of embryonic DNA.

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“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.

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“Detection of Aneuploidy for Chromosomes 4, 6, 7, 8, 9, 10, 11, 12, 13, 17, 18, 21, X and Y by Fluorescence In-Situ Hybridization in Spermatozoa from Nine Patients with Oligoasthenoteratozoospermia Undergoing Intracytoplasmic Sperm Injection”

Human Reproduction

Volume 14, Number 5, 1999

Men suffering from oligoasthenoteratozoospermic (OAT) are more likely to have numerical chromosomal abnormalities (aneuploidy) of the sperm donated for intracytoplasmic sperm injection (ICSI). Compared to fertile men, men with OAT have about 33 to 74 percent of sperm with aneuploidy. Aneuploidy may also contribute to the infertility of men diagnosed with OAT. Men with very low sperm counts are at increased risk of having a child with sex chromosome abnormalities.

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“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.

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“Preimplantation Genetic Testing”

The BMJ

Preimplantation genetic testing is the process by which one or more cells are extracted from an embryo that has been fertilized via IVF. The cell is then tested for a number of genetic or chromosomal issues. Preimplantation genetic diagnoses (PGD) tests the embryo for a specific genetic abnormality, such as Cystic fibrosis. Preimplantation genetic screening (PGS) looks for any form of aneuploidy, which can cause implantation failure, miscarriage or birth defects. Doctors use the information gathered from the preimplantation genetic testing to determine which embryos will be optimal for uterine transfer.

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“Clinical Applications of Preimplantation Genetic Testing”

The BMJ

Experts agree that preimplantation genetic diagnosis is clinically appropriate for many known genetic disorders. However, some applications such as preimplantation genetic screening for aneuploidy, remain controversial. Clinical data suggest that preimplantation genetic screening may be useful, but further studies are needed to quantify the size of the effect and who would benefit most.

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“Validation Report For Next Generation Sequencing For Chromosomes (Ploidy) and Structural Chromosome Imbalances As Compared to CGH microarrays”

Published by AdvaGenix, November 21, 2014

This validation document will demonstrate our ability to accurately diagnose ploidy and structural chromosome imbalances from a single or a few cells biopsied from embryos.

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“Validation Report For Next Generation Sequencing For Chromosomes (Ploidy) As Compared to CGH Microarrays”

Published by AdvaGenix, July 10, 2014

This validation document will demonstrate our ability to accurately diagnose ploidy from a single or a few cells biopsied from embryos.

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