Healthwise: Diagnosing Genetic Diseases

By: Cheryn Stone Email
By: Cheryn Stone Email

July 7, 2010

Couples expecting a baby can only hope that the child will be born healthy, but what's happening in a dark lab at Martha Jefferson Hospital is helping increase those chances.

Preimplantation Genetic Diagnosis (PGD) is a procedure in which doctors use in vitro fertilization to get embryos and perform a biopsy to look for genetic diseases.

"Couples get referred to us from genetics counselors, OBGYNs and family doctors because they have a known genetic disease," said Dr. Christopher Williams.

Expecting parents can either be impacted by the genetic disorder or could pass it on to their offspring. In the past, it was truly a roll of the dice as to whether the disease was passed on to the child.

"In the past, the way to deal with this was you sorta rolled the dice. PGD is obviously a fantastic step forward in preventing disease, rather than having to put a couple in a position where they need to decide whether to terminate a pregnancy for some severe problem in their baby," said Dr. Williams.

Dr. Williams says some people misunderstand what PGD does. He says there is a clear difference between PGD and PGS, Preimplantation Genetic Screening.

"PGS involves looking at lots of genes trying to screen embryos for being normal, and also theoretically you could screen for specific characteristics in that embryo," he said.

PGD is used to diagnose a specific genetic disease, and gives couples the ability to better prevent a very severe illness in their baby before the embryo is ever implanted in the uterus.

Dr. Williams says PGD is becoming more common as awareness groups are created and more couples are referred to the procedure. Ultimately, Preimplantation Genetic Diagnosis could help all couples trying to conceive, so parents can take home healthy babies.

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