This is something I had to ask myself almost two years ago and if there’s one question that’s been put to me more than any other, it’s this one.
In recent months I’ve talked about our initial diagnosis, proposed treatment plan and next steps. However, I thought it might be helpful to share my thoughts on how I would approach additional NHS and private testing if I knew then what I know now.
More than half of cases of recurrent pregnancy loss will return normal results and often couples are told to try again while being monitored more closely in their next pregnancy. In our case, we took that advice, and I suppose you could say hindsight really is a valuable thing.
My experience of NHS recurrent miscarriage testing
My tests were carried out following my first loss, a late miscarriage at 16 weeks in June 2016. We spent time with our son after he was born and to us he was perfect; 10 tiny fingers, 10 tiny toes, beautiful skin and not a mark on him. How could we lose our precious boy when nothing appeared to be wrong?
I found the lack of answers following my tests and Harris’s postmortem so difficult to accept. Yes, I was healthy on paper, which statistically made a future pregnancy more likely, but how on earth was I supposed to process my thoughts and feelings around our loss when we were given no reason for the death of our child?
Our local NHS recurrent miscarriage clinic was sympathetic, but the only advice they could give us was to try again and at the time it felt like it was the best option. Part of me believed it would be healing for us, to be well into a healthy pregnancy by the end of that year. And as it happens I fell easily. But by Harris’s due date, 17th December 2016, I was already experiencing a third loss.
Between Christmas and New Year, while Jonathan and Cora were away spending time with family, I immersed myself in blogs and forums and studies. I read two books; Miscarriage: What Every Woman Needs to Know by Lesley Regan, and Is Your Body Baby Friendly? by Alan E. Beer. I needed to absorb as much information as I possibly could and formulate some kind of plan.
Initial private fertility testing
We decided to give ourselves a six-month break from trying to conceive and in that time I met with a nearby private fertility clinic in Scotland named GCRM. I was advised to have uterine Natural Killer (uNK) cell testing and we invested in parental karyotyping, something the NHS wouldn’t offer us unless a pregnancy had been lost due to a chromosomal issue.
The results of these tests were normal and after being advised to forget about any form of basic semen analysis or sperm DNA fragmentation testing because it was unlikely to be a factor (something I’ll come back to), I began exploring MTHFR. These letters had been popping up in my research and there are bloggers and experts out there that explain the gene and its function far better than me (see below resources), but in basic terms, an MTHFR gene mutation can lead to a loss in methylation function.
What’s important about this is that studies support a link between the mutations in the gene and pregnancy loss. There are currently 34 mutations in the MTHFR gene, which sits on chromosome 1, and I tested positive for one copy of MTHFR C677T, a result that was disregarded by the fertility clinic as a cause for concern as, here in the UK, it’s not recognised as being linked with recurrent loss. However, it’s a different story in the US and Australia and so I’ve since followed the advice for those with any type of MTHFR mutation; to take the natural form of folate, quit alcohol (as long as I’m trying to conceive anyway) and reduce caffeine intake. I’ve also made other lifestyle, dietary and environmental changes, many of which form part of basic fertility planning anyway.
I won’t go into further detail about MTHFR but if this is of interest the websites I follow include:
http://mthfr.net/ – Dr Ben Lynch, an expert on MTHFR gene mutations
https://www.mthfrsupport.com.au/ – a dedicated clinic that specialises in addressing health issues associated with MTHFR genetic polymorphisms and methylation issues
https://www.floliving.com/the-mthfr-gene-mutation-and-your-fertility/ – how an MTHFR mutation can impact on your fertility and what to do about it
Secondary private fertility testing
I wasn’t entirely convinced that we had found the root cause of our losses, or that we ever would, but for me having the gene mutation and some kind of plan to support it gave me hope for a future pregnancy.
Sadly, we went onto experience our fourth loss, this time due to a chromosomal issue. Because of this, we decided to invest in further testing, this time with Zita West in London. I underwent the Chicago tests, often referred to as level 2 (where NHS offer level 1) as they look in-depth at the immune system, and I tested positive for elevated NK cells and raised cytokine levels, both factors in recurrent pregnancy loss. I was also diagnosed with a PAI -1 gene mutation which, when linked with an MTHFR mutation, can present a clotting risk.
At this point, Jonathan tested positive for sperm DNA damage, and we approached a private clinic in Athens called Serum after hearing about their success in treating intrauterine infections, something I also tested positive for.
Finally, I had my GP refer me to Tommy’s National Centre for Miscarriage Research. I knew our visit to Tommy’s wouldn’t result in further testing although they did recognise my private test results and suggested a staged treatment plan to support our diagnosis, a treatment plan that my local NHS fertility centre and the professor I’m under the care of have now taken on board to increase our chances of a successful pregnancy.
So what would we do differently?
Had I known about the link between my gene mutations, I would have embarked upon the Chicago tests six months sooner, at the time of undergoing uNK cell testing. There are different schools of thought on this area, and I believe Tommy’s are in the early stages of conducting a trial, so there’s simply not enough evidence to support some of the findings. But I do know of women who are successfully having babies after undergoing treatment for elevated NK cells and raised cytokine levels.
Male factor infertility could be a cause in at least half of all recurrent miscarriage cases, something we weren’t aware of until after our fourth loss. Had we known this early on we would have paid for sperm DNA testing a year sooner. It’s such a simple test and we’ve seen that dietary changes, the right supplements and antibiotics treatment can support improvements. This is also something that Tommy’s are currently looking at and I believe they’re recruiting for a trial.
Ultimately, I believe that with the right knowledge, we could have saved ourselves a year of heartache. It’s not a long time in the realms of infertility but it accounts for half of our time.
What to request from the NHS
Here, I’ve listed the specific requests I would make following recurrent miscarriage testing, assuming a normal result.
- Basic sperm analysis – this is a vital test that could support many couples. Male factor infertility is linked with recurrent pregnancy loss (source: ScienceDirect) and in our case, it wasn’t investigated until we were 18 months into our journey.
- Hysteroscopy – the NHS wouldn’t offer me a hysteroscopy because I had a diagnosis by the time I asked and because I have a healthy child. However, some of the ladies I’ve met at a local fertility group have been offered one following recurrent loss so it’s worth finding out if it’s an option. I decided to invest in a private hysteroscopy with Serum because they have a good reputation for carrying out the procedure in partnership with their local hospital. My care was excellent, it was discovered that I had inflammation likely caused by my intrauterine infection, and much of the scar tissue that was found was removed. I was given antibiotics and serrapeptase to treat my problems so it was a worthwhile procedure for me.
- Parental karyotyping – we were unable to have this test on the NHS until our fourth loss tested positive for a chromosomal issue, however, some NHS trusts may offer it following one or more losses.
- ERPC (if testing of the pregnancy is offered) – if you’re experiencing a second or third miscarriage, testing of a pregnancy could offer some insight into why loss has occurred. I didn’t opt for an ERPC until my fourth loss and it’s the only time I was given a reason. Yes, there are risks associated with any procedure, but I felt that the benefits outweighed them and I would opt for an ERPC in future.
- Referral to Tommy’s Miscarriage Clinic – while we met with Tommy’s and they supported us in our decision making, something I might have done if I could turn back time was see them following our third loss, not a year later. Many couples take part in trials in future pregnancies so they can be closely cared for while giving important information to Tommy’s to support their research. One couple I know successfully conceived two children following three losses after seeing Tommy’s clinic and participating in a trial throughout both pregnancies.
Private options to consider
Once the NHS options have been exhausted, here are some of the private tests that could be explored.
- Infection screening – offered by Serum, this simple and cost-effective test gave me and Jonathan an opportunity to make drastic changes
- Sperm DNA fragmentation testing – this was a major missing link in our tests and treatment plan and we didn’t explore it until we were 15 months into our secondary infertility journey. Many couples assume that if basic sperm tests are okay there’s no point in pursuing sperm DNA tests, but in our case, there was sperm DNA damage while the basic results were “normal”. Do both, if you can!
- Chicago tests – my initial tests showed that I was positive for NK cells, however, I later tested negative after completing the protocol for an intrauterine infection. Repeating the test was costly and so I would complete infection screening before attempting this.
I can appreciate that this is a lengthy post with some information repeated from earlier entries, but what I’ve tried to do is share our journey through testing based on the results of our NHS recurrent miscarriage tests.
It’s not an exhaustive list of available NHS and private tests, and each journey is unique, but if at least one step we took plants a seed or backs up a plan, we may just help someone.
One final point to add is that I still have no idea what caused three out of our four losses. We believe it’s down to many factors and all we can do is follow our treatment plan and hope that the next baby makes it.
As always, if you have any questions or would like me to expand on any points, please comment below, send me an email or drop me a message on Instagram.
Thanks for reading.