Fertility Blog

PGD: An Alternative

We are the parents of a little boy with a rare, life-threatening, enzymatic disorder. He inherited this condition through genetic mutations passed along to him by us. Caused by a recessive genetic defect, neither of us is affected in anyway as we are simply "carriers" of this disease. Once we were determined to be carriers, however, we learned that should we conceive another child naturally, there is a 25-percent chance that we will have another affected child. It had always been our plan to have more than one child. However, as we began to discuss the possibility of having a second baby, we both realized that given the physical, emotional and financial costs of being affected by this disorder, we were not comfortable with consciously bringing another child into the world without doing everything we possibly could do to avoid this for any other child.

Embryo Biopsy
After two years of extensive pre-conception counseling, we decided in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) through Pacific Fertility Center would give us the best possible chance of giving birth to an unaffected child. A medical technique whereby embryos can be screened for specific genetic defects prior to transfer to the womb, PGD has been performed for over 10 years and has proven to be a most effective method of diagnosing embryos for known genetic mutations. To-date there have been over 2500 PGDs performed around the world resulting in over 1600 children born without the disease for which they were screened. The error rate for PGD is less than two-percent; therefore, PGD would reduce our chance of having an affected child from 25% to less than 2%. A little over a year ago we began our IVF with PGD Embryo Biopsy cycle. On Day 3 after retrieval, when our embryos were eight-cells or so in size, a single cell was biopsied from each embryo. These cells then were sent to a lab where the single cell from each embryo was tested for the genetic defect in question. We then transferred two embryos pre-determined to be unaffected by the disorder. In October of last year, we welcomed to the world our miraculous bundle of joy, an - unaffected - little boy. -- Name withheld upon request

Posted on May 8th, 2004

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