60 Minutes on CBS recently reported on the science of genetics, noting that there are few fields of medicine that are having a bigger impact on how we diagnose and treat disease. (View 60 Minutes segment here.)

The science of genetics has gotten so sophisticated so quickly that it can be used not only to treat serious diseases, but also prevent them well before pregnancy even begins through a technology called preimplantation genetic diagnosis or PGD.

PGD is the practice of obtaining embryos through IVF and then testing a biopsied portion of the developing placenta for genetic abnormalities known to exist in one or both parents. Embryos that are identified to be at a reduced risk for disease are then transferred into the maternal uterus, thus potentially “breaking the cycle” of passing on genetic diseases to future generations.

Essentially all people are carriers of changes in their genetic code that could, in the right circumstances, lead to having a child affected with a disease. For most people these abnormalities are silent and are only a problem when they have children with someone else with the same recessive abnormality. The physicians at Fertility Associates of Memphis offer “carrier screening” to patients to detect some of the most common autosomal recessive diseases. When both parents are carriers of a recessive genetic trait, children can be affected with significant health problems such as cystic fibrosis, Tay Sachs disease, and sickle cell disease to name a few. In other cases, where the trait is dominant, a disease may be passed to future generations even if only one parent harbors the genetic abnormality.

Dr. Paul Brezina, Director of Reproductive Genetics at Fertility Associates of Memphis, said, “Thanks to reproductive genetics, couples have more hope than ever before when it comes to reducing the risk of passing on genetic diseases. The process is unique to each patient, so the type of genetic testing performed and other factors may differ from person to person.”

The 60 Minutes segment that aired on Oct. 26, 2014 focused on the explosion of this technology and future implications of it in the future. Widespread screening for genetic abnormalities in healthy people is now being commonly performed prior to attempting conception. Therefore, identifying couples at risk for having a child affected by a genetic disorder will be more common in the future. PGD offers a therapy that can help such couples reduce the risk of having a child with a significant genetic disorder.

When PGD was first performed in the early 1990s, it could be applied to a very limited number of disease states. In 1996, our doctors pioneered PGD to screen for inherited genetic disease when they were able to successfully detect sickle cell disease genes in embryos before embryo transfer. Current genetic technology, however, allows physicians to screen for hundreds of different carrier disease states. Once the carrier genes are identified, PGD can be performed to identify any genetic sequence that is known to exist in either or both parents.

The medical team at Fertility Associates of Memphis performed the first preimplantation genetic testing procedure in the Mid-South in 1996 and continues to use the latest, most cutting-edge techniques today. To schedule an appointment with one of our board certified physicians, please call our office at 901-747-2229 or visit online at www.fertilitymemphis.com.

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Genetic Testing Preimplantaion Genetic Diagnosis Preimplantation Genetic Testing

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