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To Pick and Choose

Preimplantation Genetic Diagnosis

By Heather Johnson Durocher

PGD is used during IVF. According to Dr. Mark Leondires, medical director and lead physician with the Center for Advanced Reproductive Medicine in Norwalk, Conn., before the embryos are placed back into the mother, they are tested for chromosomal and genetic defects.

PGD was first used on human embryos in the late 1990s, says Dr. Leondires. At that time, the procedure was used strictly for genetic reasons – "carrier" couples with a high risk of transferring serious diseases to their offspring.

"There are over 40 single gene disorders that have been identified that can be tested for, from cystic fibrosis to sickle cell disease to Tay-Sachs," Dr. Leondires says.

New research from leading experts confirms that accurately diagnosing genetic abnormalities in the embryo reduces the risk of transferring an affected embryo by up to 88 percent. Dr. Leondires says that fertility experts are going a step further by saying that the procedure could prove beneficial for more couples, including those that have endured recurrent pregnancy loss.

"The majority of miscarriages – upward of 70 to 80 percent of miscarriages – are secondary to chromosomal problems within the embryo," he says.

Because these chromosomal problems usually come from the egg and not the sperm, screening the embryo could provide insight into potential problems before a miscarriage occurs. In other words, PGD would allow a couple to know which embryos secured for an in-vitro fertilization procedure are healthy.

One recent study evaluated the impact of PGD on women in high-risk pregnancy categories, including women who suffer from recurring pregnancy loss or two or more failed IVF cycles. The study revealed that PGD is promising.

"As a result of the study, we are now ble to give couples answers never before made available regarding their chances for increasing pregnancy success and minimizing the risk associated with genetic disease," says Dr. Lawrence Werlin, the study's principal investigator and the founder and director of Coastal Fertility Medical Center in Irvine, Calif. Dr. Werlin also helped Steinhart and Rappoport have their baby.

The study's second phase is currently under way and further examines the effects that PGD has on women in high-risk pregnancy categories, including women of advanced maternal age. According to Dr. Werlin, preliminary results for advanced maternal age are looking more promising than previously discovered.

Want to see more?

• Pre-implantation Genetic Diagnosis: Ensuring Your Baby's Health
• High-Tech Babies: Artificial Insemination
• When a Miscarriage Isn't Nature's Way
• Talk about it!