American Fertility Association Calls For Expanded Research To Advance New Technology To Screen Embryos For Genetic Abnormalities

Main Category: Fertility
Also Included In: Genetics;  IT / Internet / E-mail
Article Date: 19 Oct 2007 - 0:00 PDT

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According to results of a research effort presented this week at the American Society for Reproductive Medicine meeting, researchers have for the first time successfully used a new screening technology to analyze all 46 chromosomes in a human embryonic cell. The procedure makes it possible to screen all chromosomes in embryonic cells to identify genetic abnormalities that increase the risk of birth defects and miscarriage.

"The current technology used to screen embryos for defects analyzes only a small number of chromosomes, making it impossible to detect many of the known genetic abnormalities linked to miscarriage and birth defects. As a result, thousands of women and babies are at risk every year," said Pamela Madsen, executive director of The American Fertility Association, adding, "This procedure makes it possible to analyze all of the chromosomes in an embryonic cell, representing one of the most significant advances in reproductive medicine in a decade. We must work to bring this new technology to patients as quickly as possible."

The procedure, known as "Accurate 23 chromosome aneuploidy screening in human blastomeres using single nucleotide polymorphisms (SNP)," makes it possible for the first time to fully evaluate the genetic make up of human embryos quickly and accurately enough to use that information to help improve pregnancy rates, reduce miscarriage risk, and decrease the risk of major congenital anomalies such as Down syndrome for patients treated with IVF. The study was conducted by researchers at Reproductive Medicine Associates of New Jersey (RMANJ).

"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.

About the AFA

The AFA is a national, non-profit organization providing men and women, health care professionals, public officials and the media, both nationally and internationally, with information about infertility treatments, reproductive and sexual health and family building options including adoption and third- party solutions. The AFA offers a range of services - all free to consumers - from a support line to extensive online resources designed to help individuals and couples experiencing infertility gather information about options, medical treatments, coping techniques and legal and insurance issues.

American Fertility Association
http://www.afafamilymatters.com

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