Researchers Develop New Procedure to Screen All 46 Human Chromosomes to Identify Abnormalities ...(first timeboth high accuracy and efficie...),Health

In this new process, a single cell is removed from an embryo on the third day of embryonic development. The 3 billion base-pairs of nucleic acid that make up a single copy of human DNA weigh only 6 trillionths of a gram, which is too small to allow analysis. It is necessary first to copy this code over one million times with great fidelity to accumulate sufficient DNA to accurately analyze the number of chromosomes present in the cell. This step, termed whole genomic amplification (WGA), one of many technologically demanding steps required for this process, has been refined extensively by the team at RMA. Once amplified, approximately 250,000 different areas of the DNA, called single nucleotide polymorphisms (SNPs, or "snips") are individually examined and assigned a specific copy number. These copy numbers are then collated for each chromosome and the number of each individual chromosome calculated.

This process makes it possible to identify any deviation from the normal copy number of two for each chromosome pair in a developing embryo. Copy numbers of "one" or "three or more" indicate a chromosomally-abnormal embryo which would generally not implant but which may implant and lead to subsequent miscarriage or, rarely, result in the birth of an anomalous child. This technology should improve delivery rates of healthy children for some couples who are infertile or who experience recurrent miscarriage.

About RMA

Reproductive Medicine Associates (RMA) of New Jersey is one of the world's leading centers for treatment and research in reproductive medicine. RMA's founding partners and physicians have helped bring more than 17,000 babies to loving parents. RMA is also world-renowned for having one of the highest success rates in the treatment of infertility.