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7 things you've always wanted to know about IVF with PGD but were afraid to ask

Image courtesy of Naypong & FreeDigitalPhotos.netImage courtesy of Naypong & FreeDigitalPhotos.net

1. What is it?

 In vitro fertilisation with preimplantation genetic diagnosis is a specific fertility treatment offered to couples who have been found to carry faulty genes. Embryos are created by combining the woman's eggs with the man's sperm in a lab. These embryos are then matured to day 5 when they are known as blastocysts and have divided enough times to contain more than 40 cells. A biopsy is then taken from the embryos and sent for testing. The embryos need to be at blastocyst stage as the biopsy removes some of the cells. If it has not divided into many cells removing cells for biopsy will damage the embryo. Most clinics freeze the embryos once the biopsy has been taken as the results take a few weeks to come through. Some clinics get the results in a few days and put an unaffected embryo back in the woman's uterus in the same week her eggs were collected. This is similar to IVF without PGD and is referred to as a fresh transfer. My clinic only does frozen transfer with PGD. The test screens for a specific gene or chromosome abnormality and only unaffected embryos are put forward for transfer.

2. Who is it for?

 IVF with PGD is available for couples where one or both partners have been found to have a specific issue with their chromosomes and genes. This could mean one of the couple has a genetic condition they do not wish to pass on or they could be carriers. If they are a carrier they will have a faulty copy of the gene involved but are not affected by the condition it causes. If they were to conceive naturally they run the risk of having a child with the condition. The most common reason for doing IVF with PGD is something called balanced translocation (BT). That is what I have. I have a Robertsonian Balanced Translocation of chromosomes 13 and 15. That means that one of my copies of chromosome 13 is broken off from the other copy at the mid point and attached to one of my copies of chromosome 15. That means when my chromosomes divide to create an egg I could end up with an egg that has an extra copy of chromosome 13 or 15 or those chromosomes could be missing. The exact outcome for a resulting baby from that egg depends on the chromosomes involved. In my case all genetic defects my translocation causes would end in miscarriage. The Robertsonian bit means the chromosomes are broken in the central point. You can also get reciprocal translocations and in those the break can be anywhere on the chromosomes. Reciprocal translocations can involve any combination of the 23 chromosomes. Robertsonian translocations only involve chromosomes 13,14,15,21 or 22. The balanced part means that the carrier is not affected other than when it comes to reproduction. An embryo with the wrong genetic information as a result of a translocation would be described as unbalanced. My unbalanced embryos would not be viable but in some cases they are but have genetic syndromes. The word translocation represents the fact that chromosomes or parts of chromosomes have swapped places.

3. How do you know you need it?

 Here I will speak mainly about BT as that is my experience but some of the testing and processes will be the same regardless of the genetic condition involved. I count myself as incredibly blessed as I have known about my BT all my life. Well I've known I had some genetic issue that would impact on my fertility. I didn't know details until we started seeing doctors and genetic specialists. Due to the fact that unbalanced translocations result in a syndrome or miscarriage most people are diagnosed after they have gone through considerable heartache. My Mum had recurrent miscarriages and as a result had an amniocentesis when she was pregnant with me and my BT was picked up then, as was my Mum's. It wasn't really explained to my Mum so although I grew up knowing there was something I didn't know details. For me the process of discovering IVF with PGD began nearly 2 years ago when we went to the Dr having been trying to conceive for about 18 months. We were referred to the fertility clinic and I mentioned the genetic issue so I had an extra blood test which was sent to the genetics team. It took a couple of months but the results came back with details about the chromosomes involved. We then went to see the geneticist who explained everything beautifully. She explained that our options in terms of having a child were to continue trying and have the unborn child tested to see their genetic status or to have IVF with PGD. At that point there were a few other issues I had that were affecting my fertility so we decided to address those issues and if the treatment for those resulted in a pregnancy we would go down the testing route. After a year of treatment and trying I was still not pregnant so we decided to pursue IVF with PGD. We are committed Christians so this was not a decision we made lightly, I'm sure no one makes it lightly. We had to find peace with the fact we would be making decisions about the fate of our embryos. We did find that peace and since starting the process my other fertility issues have miraculously disappeared. This, for us, is confirmation that IVF with PGD is God's plan for our family.

4. How much does it cost?

 As we are in the UK and meet their requirements we are funded by the NHS for our treatment. With PGD we get funding for 3 cycles, if we were not doing PGD we would only get funding for one cycle in our locality. Other localities fund different amounts of cycles. I thank God for our NHS funding every day, we couldn't do this otherwise. Without the funding, at my clinic, the cost would be well in excess of £6000 for just one cycle. There are age restrictions on the NHS funding and you don't qualify if you or your partner already have an unaffected child(ren).

Note: In Australia, PGD testing is not covered by Medicare, however some parts of the IVF process is. The price can vary from clinic to clinic, so couples literally have to shop around. However, generally the cost (after Medicare rebates) is between $9500 - $15000.

5. What does it involve?

 To answer this let me take you through my treatment from our referral to now. Our fertility Dr made the referral to the IVF clinic in February. In March we were sent a small forest worth of paperwork to fill in, sign and return. IVF of any kind is regulated by the HFEA in the UK and we had to fill in forms about child welfare and criminal convictions involving children. We also had to give our consent for everything you could imagine! We had our first appointment with our IVF nurse in April. Here I had a scan as a baseline for starting treatment. It was at this scan that I discovered I no longer had polycystic ovarian syndrome and also the my womb was no longer heart shaped. You can read more about these miracles in an earlier post on my blog. We signed yet more forms and learnt more about the whole process. A few days later I received my medication schedule in the post and a number to call to organise delivery of my meds. My meds were then delivered (by stork fertility!) and I waited for day 21 in my cycle to start my medication. The first stage of medication is called down regulation and I did this with a nasal spray, 2 sniffs morning and 2 sniffs evening. You can down regulate with injections. Down regulation medication shuts down your ovaries so the next stage of medication can stimulate them to produce several eggs. During this time you have a withdrawal bleed. Due to the fact that down regulation shuts down your ovaries it can cause menopausal symptoms. I wasn't too badly affected but did have a few hot flushes and a couple of spectacular mood swings. I took the nasal spray for about 2 weeks and then had my down regulation scan appointment. This was to check everything was going as it should. My scan was fine and showed my womb lining was thin and my ovaries were "quiet". We both had to have blood taken at this appointment to make sure we weren't carrying any infectious diseases. We had these when we were referred but under HFEA guidelines they only last 3 months so we had to have them again. My blood test was fine but the nurse had trouble getting blood out of my husband. After so much of me being prodded and poked I almost enjoyed him having to have repeated jabs! At this appointment we were also shown how to use the injection pen for the next stage of medication. After down regulation comes stimulation which I started about a week after my scan. Everything in IVF is times precisely around your menstural cycle and I had a very strict schedule to follow. Stimulation medication is injected, I had gonal f which comes in a handy easy to use application pen. A woman naturally produces one (sometimes 2) eggs each month. IVF treatments aim to create several embryos so the strongest can be put back and others frozen so the next treatment won't need so much medication. IVF with PGD particularly needs lots of embryos as statistically some in a batch will be affected. Stimulation medication, therefore, helps a woman to produce several eggs. Eggs come out of follicles on the ovary and in most woman only a few follicles develop each month. I, however have polycystic appearing ovaries because I naturally have several follicles on each ovary. Each month I have a leading follicle which grows big enough for an egg to come out. Stimulation medication makes several follicles grow big enough. I injected myself in my stomach every evening and had 2 scans to check growth and confirm when the eggs would be ready to collect. At my scan before collection I had 24 follicles between 17&22 mm. I could feel my ovaries getting bigger and was quite uncomfortable. 2 days before my egg collection I had to take a trigger injection at a precise time so the eggs will be ready at my scheduled collection time. The trigger is HCG hormone which matures the eggs. I then had a drug free day before we went to the clinic for egg collection. This was the end of June. We were scheduled for 9am but had to be there for 8. I had some pain relief but wasn't allowed to eat from the previous evening and had to stop drinking water an hour before. This was because egg collection is done under sedation. We had more forms to fill in and hubby went and did his bit. I then went in and was sedated. They collected 12 eggs which I was a bit disappointed with but was assured it was good. I took a long time to recover from the sedation and needed a drip as I was very dizzy. I also had a bad reaction to the sedation in the car on the way home being rather violently ill. Once home I started to feel like I was recovering. Over the next few days we heard that eight of our eggs had fertilised and all 8 grew and developed enough to have a biopsy taken for PGD and they were frozen. I unfortunately succumbed to a complication from the stimulation meds and became so poorly that I was hospitalised. I was suffering from something called ovarian hyperstimulation syndrome (OHSS). Basically my ovaries had stimulated too much and I was leaking fluid into my abdomen. It was also drawing fluid out of my blood making it thick and sticky. The fluid in my abdomen and my huge ovaries squished everything else like my stomach out of the way which made me nauseous and sick. The sticky blood made me dizzy. After 24 hours in hospital with IV fluids, blood thinners and anti nausea meds I was able to recover at home. It took about a week to go back to my normal size and I had put on and then lost 5lbs in water weight. Shortly after I recovered we received the news that 4 of our embryos (which we nicknamed blobs) had normal chromosomes. The PGD test showed 2 were definitely abnormal but another 2 had chromosomal problems unrelated to my BT that meant their viability is questionable. We have to decide what to do with those two. We have decided to defer that decision till after we've completed a cycle with one of our frozen healthy blobs. As I was so ill I had to wait 3 periods before I could start on the process to have a frozen embryo replaced. The middle of those was 15 days late which meant it was October before we could start the next step. As I normally ovulate on my own and am pretty regular I was able to do a natural frozen cycle. Frozen cycles can be medicated or natural. As I've never done a medicated I can't comment on it. For my natural I have taken no medication but some people take progesterone pessaries. I phoned the clinic on day 1 and had a scan on day 10. That showed my lining wasn't quite thick enough so I had another one a week later. In between I used home ovulation test sticks to see if I had a surge of hormones indicating ovulation. I surged the morning before my scan so we were able to book in for transfer there instead of phoning. A week after my surge I was in the clinic with a full bladder having one of my 4 PGD passed blobs put into my uterus. It's guided by ultrasound hence the full bladder. The whole thing took 5 minutes and we were on our way home! I'm now half way through my 2 week wait to take a pregnancy test and see if it's worked.
Edit: I have now completed my 2 week wait and unfortunately the test was negative. Next step is to try again with one of the three remaining blobs.

6. What's the worst thing about doing IVF with PGD?

 The waiting! So much waiting! We waited for referrals, right dates in cycles, periods to come, results of tests, scan appointments, the list goes on!
Edit: I wrote this before I took the pregnancy test after my first frozen transfer. The worst thing about IVF with PGD is waiting for that second line on the pregnancy test that never appears. It leaves you feeling numb and with a huge sense of grief.

 

7. What's the best thing about doing IVF with PGD?

 Having some control in the process and taking active steps to fulfilling the desire that's been on my heart for so many years!

You can follow this journey at

Made to Nurture

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