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Preimplantation Genetic Diagnosis

When my husband and I decided to deal with our infertility we wanted to educate ourselves and find a solution to our problem. We were considered by our doctors to fall under the category of “unexplained Infertility,” I was 36 years old and had not gotten pregnant after 8 years without birth control and had 6 failed Intrauterine Inseminations (IUI’s). It was time for a more aggressive approach and we needed to find a doctor who would really know our case and make us feel involved in our course of action.

Preimplantation Genetic Diagnosis
Preimplantation Genetic Diagnosis

We were referred to a doctor who had gotten two couples we knew successfully pregnant so we trusted her success rate. On our first visit, the doctor sat us down and discussed all of our options. We didn’t even know we had options before this visit. The doctor said we could do more IUI’s because she felt the timing was off with the 6 we had done, we could do straight IVF (In Vitro Fertilization) or we could do IVF with PGD. PGD is a chromosome or genetic wash/screening that identifies any embryos with genetic defects or any major diseases that would cause a pregnancy to terminate after implantation. PGD can identify almost 200 genetic defects that can inhibit a healthy pregnancy. We opted for IVF with PGD because we saw it as the fastest and least complicated way to have a healthy pregnancy after so many failed IUI’s and so many infertile years. I also was concerned about my age but only because the medical community made me feel so self conscious about the complications that I could have as I got older.

I had 24 eggs harvested for IVF (yes I did!). Five were “no good,” or had complications like a missing cell nucleus. There was one embryo that had double XXYY chromosomes and one had Turner’s Syndrome (or one X chromosome affecting females). Of the 19 left, 10 were allowed natural fertilization after PGD (meaning my husband’s sperm naturally fertilized my eggs without assistance). We implanted 3 “good” eggs during our first round of IVF. We used two male and one female embryos knowing that the female would be strong enough to pull through :).

The remaining 9 eggs were to be used in research. We were told this meant that the sperm would be manually injected into the eggs for fertilization. We did not realize before this was done that it could possibly compromise the genetic make-up and viability of the embryos. It was suggested to us that these 9 eggs be destroyed (after the research) as their future development and health would be unknown. Had we known this prior to the procedure, we definitely would have had more to say about it. I do not regret that a contribution was made in the name of scientific research but I would have liked more time to consider what that meant. Ethically, we should have been given all of those facts beforehand but I think the doctor and staff figured we just wanted to get pregnant. “No matter what” was not part of the equation for my husband and I. We liked to talk about our options and think things through before making such major decisions.

Even though we went through the genetic screening, it was still possible for the embryos to develop either an inherited or environmentally caused disease, defect or illness. PGD is not the end all be all but it helps prevent complications that can develop in older pregnant women. If you read my previous blog, you know that my daughter developed an Immune Disorder at age 1 regardless of all of this prevention before her birth. There is also not a lot of information available about the future health of a PGD child. We knew we wanted to be parents so we chose to trust this method to have our children. I often think about what this means for my children’s future but I look into their beautiful eyes and healthy faces and I have to trust that it will all be OK.

Morally and ethically we had to deal with a lot of hard decisions. First whether to do IUI, IVF or PGD at all. Then we had to choose the sex of the embryos we wanted to use (we didn’t have to- the doctor could have, but since we could..). We also had to discuss selective reduction which meant that in the event that the 3 embryos we implanted created several babies (I think there are limits medically as to how many babies you can carry at once) did we want to reduce in the womb. We also had to decide what to do with our remaining 7 healthy eggs. As for selective reduction, we figured at this point, what ever we were graced with was meant to be. We opted to refuse the reduction for both ethical and religious reasons.

The hardest decision I had to make had to do with embryo storage. The remaining 7 eggs were frozen at the ART center and each year we would have to pay for that storage. There are studies that support the viability of these eggs after years of being frozen but not enough is known about it since IVF/PGD and frozen embryo storage for pregnancy are relatively new. There comes a point where this decision has to be made unless you want to pay this bill every year, and for my husband and I it was a tough one.

I will tell you that these were some very hard decision to make, but I will say this. Even though there are a lot of people who may feel that we are trying to play God by using such procedures to get pregnant, I feel that the embryos STILL have to implant into the uterine lining and they STILL have to make it through pregnancy to become our children.

Written by: Gina