New procedure can prevent genetic disease before pregnancy

Preimplation Genetic Diagnosis (PGD) gives new hope to high-risk couples. This newest procedure for fertility screening offers opportunity to prevent genetic disease from being passed from carrier parents to their children.

February 5, 2004--New procedure can prevent genetic disease before pregnancy.

Preimplantation Genetic Diagnosis (PGD) gives new hope to high-risk couples

The Center for Advanced Reproductive Medicine, Norwalk, CT, January 2004 According to the March of Dimes, chromosomal and/or genetic anomalies are either solely (13%) or partially (up to 20%) to blame for up to one-third of the 150,000 babies born with a birth defect each year. Whats more, recent research confirms that chromosomal and genetic defects are on the rise, linked in part to such factors as advanced maternal and paternal age, family history, environmental toxins, infertility treatments and other unknown causes.

A new procedure called Preimplantation Genetic Diagnosis (PGD) can now screen embryos for aneuploidy (a condition indicating chromosomal defects) before they are transferred into the uterus during an IVF procedure. PGD can be used for couples experiencing fertility problems, as well as for couples of normal fertility that have been identified at high-risk for passing on a genetic disease. PGD offers a new opportunity to prevent genetic disease from being passed from carrier parents to their children.

PGD is a huge development in reproductive medicine, said Mark Leondires, lead reproductive endocrinologist with The Center for Advanced Reproductive Medicine in Norwalk CT, and one of a few select reproductive specialist in the country doing PGD screening. We finally have something to offer couples facing the heart-wrenching decision of wanting to have a baby on their own but at the same time being high risk for passing on a genetic defect. PGD offers the potential to significantly improve both the outcome of the pregnancy and the babys chances for a normal, healthy life. It is very gratifying to be able to offer this kind of hope to patients struggling with questions of risks and fertility, added Dr. Leondires.

The PGD process begins with the steps taken during preparation for a normal IVF cycle. The eggs and sperm are joined in the laboratory, and once the embryos reach the 7-10 cell stage, a cell is taken from each for analysis. Those that are determined to be chromosomally abnormal are not transferred during the final stage of IVF. When we can ensure the chromosomal viability of all of the embryos were implanting we can significantly reduce, the possibility of genetic disease, commented Dr. Leondires.

In addition PGD can provide other benefits during high-risk pregnancy. Since a vast percentage of first-trimester miscarriages occur due to chromosomal abnormality PGD can help also reduce the risk of miscarriage.

Dr. Leondires adds that, Preimplantation Genetic Diagnosis can be used to screen for dozens of genetically transmitted diseases, including nearly all defects with a high risk of transmission (25%-50% or higher) and those that carry significant mortality and morbidity rates. These include cystic fibrosis, Tay Sachs disease, hemophilia, Fragile X syndrome, and rarer conditions such as Barth's syndrome and Rett's syndrome.

Dr. r. Mark P. Leondires, M.D., FACOG, is a leading authority on reproductive medicine. Dr. Leondires is board certified in Reproductive Endocrinology and Infertility. He is an Assistant Clinical Professor, Dept. of OB/Gyn at the University of Connecticut Medical School, a member of the Society of Reproductive Endocrinologists, the American College of Obstetrics and Gynecology and the American Society for Reproductive Medicine. Dr. Leondires is also a Physician member of the American Infertility Association and a member of the Fairfield County Medical Association. Dr. Leondires earned his medical degree from the University of Vermont College of Medicine and completed his residency in Obstetrics and Gynecology at Maine Medical Center in Portland, Maine. Dr. Leondires completed a fellowship in Reproductive Endocrinology and Infertility at the National Institutes of Health in Bethesda, Maryland. After completion of his training, he fulfilled his military obligation by serving as the ART Director for the largest and most successful program in the military health care system at Walter Reed Army Medical Center. During this time he was an Assistant Professor at the Uniformed Services University of Health Sciences and clinical faculty for the Combined Fellowship in Reproductive Endocrinology. Dr. Leondires is currently Medical Director and lead physician with The Center for Advanced Reproductive Medicine in Norwalk CT. Along with numerous teaching and research activities, Dr. Leondires has published articles in professional medical journals, national consumer magazine and newspapers as well as abstracts and book chapters.
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