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Pre-implantation Genetic Diagnosis

Ensuring Your Baby's Health

By Gwen Morrison

Pages:  1  2  3  

PGD is still considered experimental in most corners of the world. In the United States and abroad, most IVF centers do not offer PGD to their patients, says Dr. Antonio R. Gargiulo, an instructor of obstetrics, gynecology and reproductive biology at Harvard Medical Center.

"PGD is not 100-percent accurate, and all patients undergoing PGD should consider amniocentesis at 14 to 18 weeks for secondary screening of the chromosomal or genetic anomalies that they underwent PGD for," he says. "PGD for screening of specific conditions is different from PGD for aneuploidy (called PGA in some literature), in which the goal is to detect chromosomal anomalies by testing as many chromosomes as possible."

Dr. Gargiulo explains that in true PGD, doctors have seen a growing number of genetically transmitted diseases for which such screening is impossible from thalassemia to sickle cell disease to cystic fibrosis to Fanconi's anemia.

Benefits
The most obvious benefit of PGD is that it reduces the risk of having a baby with a severe genetic disorder. Parents who didn't think they would be able to have children because of a family history of a serious disorder are now able to detect these abnormalities prior to implantation and pregnancy. This alone provides patients with a sense of comfort as it increases the likelihood of initiating a normal pregnancy for many IVF patients.

"These couples often experience multiple miscarriages of pregnancies with an abnormal number of chromosomes, and IVF with PGD is a way for them to greatly increase the likelihood that they will have a healthy pregnancy that will go on to delivery since embryos contining the abnormal chromosome are not replaced in the woman's uterus," says Dr. Elizabeth Ginsburg, medical director of the Assisted Reproductive Technology Program at Brigham & Women's Hospital and Exeter Hospital. "Some couples undergo PGD with analysis of up to nine chromosomes due to unexplained prior pregnancy loss or advanced age. Though in this latter case, the incidence of miscarriages decreases, but the likelihood of the IVF cycle leading to an ongoing pregnancy is not increased."


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