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article imageNext generation sequencing helps with fertility Special

By Tim Sandle     Dec 5, 2014 in Health
Chicago - Next Generation DNA Sequencing has been made available for clinical. This new technology offers a 1000-fold precision increase over previous methods. It is known as Preimplantation Genetic Screening.
For couples who have experienced recurrent miscarriage, are carriers of genetic disease, or may be at risk for genetic abnormality due to increased maternal age, there is a new treatment option to help ensure a healthy baby. The treatment is being pioneered at the Fertility Centers of Illinois and Digital Journal has found out more about it from Dr. John Rapisarda, reproductive endocrinologist and director of the Recurrent Pregnancy Loss Center of Excellence at Fertility Centers of Illinois.
Recent information from the U.S. Centers for Disease Control and Prevention (CDC) reported nine times as many first births to women 35 and older than there were 40 years ago. According to the Journal of the American Medical Association, at 36 years of age the risk of Down Syndrome is one-in-289 while the risk of any chromosomal disorder is one-in-127. These numbers respectively increase to 1/106 and one-in-66 at age 40, then progress to one-in-300 and one-in-21 at age 45. The research paper this is drawn from is titled "Chromosomal Abnormality Rates at Amniocentesis and in Live-Born Infants."
Preimplantation Genetic Screening (PGS) enables scientists to examine the chromosomes of embryos made in an IVF laboratory. Many thousands of healthy babies have been born using PGS to detect chromosome disorders such as Down syndrome. These traditional technologies have utilized microarrays of 3,000 DNA targets across the human genome to examine the chromosomes of each IVF embryo.
However, now with advances from the Human Genome Project, newer technologies such as Next-Generation Sequencing (NGS) of DNA, allows for the interrogation of millions of DNA locations along the human chromosomes, effectively improving the precision of the test by 1000-fold.
These molecular genetics test have been trialed at the Fertility Centers of Illinois (FCI), with a high success rate. NGS can be used to help couples undergoing fertility treatment prevent miscarriage and deliver a healthy baby by diagnosing genetic disorders prior to embryo transfer, as well as help couples select the most viable embryos for treatment.
NGS presents a different approach to extracting genetic information from cells. NGS provides scientists a more detailed perspective on the entire genome and is significantly less expensive than previous methods of DNA sequencing. Its application in counting chromosomes to avoid genetic syndromes, discovering new genes and new gene products, and direct analysis of hereditary DNA mutations are all currently being used to give physicians and their patients a better understanding of their genetic makeup, or that of their embryos.
More about Fertility, Infertility, Dna, Genes, Gene sequencing
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