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"Accurate and rapid identification of chromosomally-abnormal (aneuploid) embryos within hours after embryo biopsy will provide physicians with the ability to select embryos for transfer to the uterus based on a far more complete and accurate picture of their genetic health than has ever been possible," said Nathan Treff, Ph.D., researcher at RMANJ and principal investigator and lead author of the study. "This could, in turn, allow us to reduce the number of embryos implanted while increasing the chances that couples treated with IVF will have a healthy baby."
Currently, the most commonly used technology for chromosomal analysis of embryos (sometimes termed preimplantation genetic diagnosis or PGD), is florescent in situ hybridization (FISH). This technique assesses fewer than half of the 23 chromosome pairs found in the human karyotype and has a suboptimal error rate. This makes it possible for many genetic abnormalities to go undetected. Prior technologies that have attempted to analyze all 23 chromosome pairs have not been useful because of the length of time required to provide accurate results.
"To improve safety and success in IVF, we must improve our ability to screen embryos. That's why this research is so important and why we must support every effort to make this new technology available to patients," Ms. Madsen added.
In this new process, a single cell is removed from an embryo and the genetic code for that cell is copied up to a million times. Once amplified, approximately 250,000 different areas of the DNA, called single nucleotide polymorphisms (SNPs, or "snips"), are individually examined. This process makes it possible to identify any deviations from the normal genetic copy. This information can, in turn, help doctors to identify embryos that offer the highest chances of successful implantation, healthy pregnancy, and a healthy baby.
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