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preimplantation genetic diagnosis

I’m a 38-year-old Maltese woman living abroad, I was first diagnosed with unexplained infertility at 33 and at 37 I was diagnosed with endometriosis, that explained my infertility. From my long IVF journey, I’d like to shed light on why embryo testing is crucial – this is medically known as Preimplantation Genetic Diagnosis PGD. Unfortunately, embryo testing is currently not available in Malta.

Firstly, due to my stage 4 endometriosis that spread through my uterus and ovaries, I only produce a maximum of three eggs with each cycle, and this only when stimulated, and therefore a tested embryo with very few eggs is very important for the following reasons:

  • Make sure it’s a good egg– lots of things could go wrong after egg retrieval. Follicles could be empty and if you’re lucky to retrieve one or two eggs per cycle, you want to make sure it is done right because there’s a chance:
    • The egg doesn’t fertilize with the sperm,
    • The egg is abnormal, which could mean that it would result in a miscarriage after being implanted in the uterus. My first cycle I retrieved two eggs, and both did not fertilize.
  • Hormones– When the IVF process starts with egg retrieval the body goes through a lot with the hormones that is given through multiple pills and injections for ovarian stimulation. Amongst other issues, these hormones can aggravate and alleviate an endometriosis condition.
  • Emotional – it takes an emotional toll on the female and the couple. You invest a lot of feelings and try to keep hopes high when starting IVF.
  • It’s a serious commitment– When going through my cycles, of which I had 7 so far, I feel like as if it is a full-time job. Between the constant hospital visits to monitor the growth of the eggs, injecting the shots and taking lots of pills and vitamins, you have to keep a schedule to take them at the same time every day. At one point I was taking eighteen pills (injections included) a day. If you need to make plans at the time you’re scheduled to take the injections, plans would start going out the window because now your body is an egg-producing-machine.
  • It’s expensive– I didn’t do IVF in Malta but every egg retrieval cost me around €4,000 and the embryo transfer costs around €3,000; this is the cheapest from my first doctor. Besides these expenses, there’s also the cost of the medication, which is around €1,500 for each egg retrieval and genetic testing. So let’s say the first cycle I retrieved two eggs that did not fertilize, that’s €4,000 + €700 genetic testing, for both embryos. Still, I hear in Malta is not free especially if I started my cycles at 33. As far as I know you have to be of an advanced age to have ‘free’ in vitro, which means the chances get slimmer.

Surely there are other factors why Preimplantation Genetic Diagnosis testing plays an important role, but in my case, after going through all of the above, why would I want to implant an abnormal embryo only to miscarry it a few months later? Unless you are a patient going through IVF, nobody can fully comprehend what one goes through, both physically and mentally, when undergoing IVF. And for some women like me, the journey could take years, if it works at all.

Every failed embryo transfer, which is the last step of IVF and of which I had two, I mourned and sobbed in silence (and at work in my cubicle) and I was angry that my body had failed me. I still think of them as my two babies that could have been here today. I resented my doctor and when I asked him what went wrong, he casually replied that it happens sometimes with no explanation. But I did everything I could to have these babies!

My logic reasoning was that if two embryos were genetically tested,  I knew that the doctor had used the best quality embryo and the aspect of implanting a bad embryo was ruled out. Otherwise, the doctor and myself could have blamed the quality of the embryo and I would have had to keep on doing egg retrievals and transfers blindly and for nothing, since I always have so few healthy embryos.

This is how important genetically tested embryo is in my situation. At this point I decided to change my doctor as my gut told me that there’s more to a genetically tested embryo not implanting without an explanation. My new doctor immediately diagnosed me with a dysfunctional thyroid and stage 4 endometriosis. The thyroid I’m treating with medication and I had a five-hour long surgery to treat the endometriosis and fibroids.

Please be kind with your comments when women open up about their struggles with infertility. Comments like ‘don’t think about it and you’ll get pregnant’ or ‘have lots of sex and you’ll get pregnant’ do not help. Trust me, only God knows I tried EVERYTHING. What you should and can recommend women is to seek an Infertility Specialist.

Lastly, comments like “don’t have an abortion and give your baby up for adoption because there are people who can’t have children” are only adding insult to injury because adopting is not something my husband and I would consider and suddenly we’re not only struggling with infertility, but we’re bad people because we don’t want to adopt. Only if and when you have been through a long infertility journey and you yourself have adopted a child, then by all means go ahead and talk about your experience to encourage women to adopt, but by senselessly commenting to relocate a baby, is not a solution to a problem. Trust me, we are all aware of the option of adoption.

Having said all this, I thank God every day for my supportive husband who has proven that he loves me for me and not for my eggs or lack of them, but what about those women whose partners expect them to conceive? IVF is not always the solution as it is not always successful and although at times, I want to lose hope to free myself from this seemingly painful endless process, HOPE is all I have to hold on to and embryo-testing plays a significant part in this HOPE.

Editor’s note: Preimplantation Genetic Diagnosis testing is also important besides the fact that it will result in higher rates of successful pregnancies but also because it may avoid hard decisions later during pregnancy. As explained above getting pregnant through IVF without Preimplantation Genetic Diagnosis testing may end up in the implantation of an unviable or unhealthy embryo. Sadly, this may result in negative outcomes and diagnosis later during pregnancy shattering the parent’s dream of having a healthy and very wanted baby. Some babies from IVF may be diagnosed with very severe fetal fatal anomalies, some women may also need or decide to terminate these wanted pregnancies due to risks to their own lives. A support group for women with negative fetal diagnosis is being set up by some mothers who have gone through this sad experience – should you too have gone through this unfortunate experience please do contact us in confidence and we will give you more information and put you in touch with this group of amazing women.

Should you wish to share your own IVF journey please do not hesitate to contact us on [email protected]


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