Recurrent Miscarriage – The Answers We Didn’t Want To Hear…

(I feel this post needs a specific disclaimer. Please note that I am not an expert in medicine or genetics, the following is only intended to provide a brief description of my current condition and should not replace any advice given to you by a doctor.)

For those of you who have been reading my blog, you will be aware of the difficulties we’ve experienced while trying to grow our brood. October marks not only a year since we made the decision to add a third child to our family, but also the due date of our second pregnancy of the year, which ended in March. As today also marks the start of national baby loss awareness week, I thought I would share the results of our recent medical investigations, which were carried out while looking into the cause of our recurrent miscarriages…

To my knowledge, everyone in the UK, who experiences three or more consecutive miscarriages, is offered the opportunity to proceed with further investigation. At the end of August, two months after our last miscarriage, we were called into the gynaecology department of our local hospital for blood tests.

 

After much discussion about the random causes for miscarriage (such as poor placental attachment or random chromosomal mutations), my blood was tested for antiphospholipid (aPL) antibody and lupus anticoagulant, as these antibodies are known to increase the chance of blood clots and alter the way the placenta attaches to the uterus. This then reduces the blood supply to the foetus, resulting in an early miscarriage.

 

For completeness, I was also scheduled in for an ultrasound (which turned out to be normal) in order to check for any structural abnormalities in my uterus, which was unlikely given my success at already producing two healthy babies.

 

As an added check, the NHS can also offer karyotyping – which checks for abnormalities in parental chromosomes – but my doctor informed this is no longer routine due to the rarity of these conditions. Despite this rarity, when I informed my doctor about my family history of genetic mutations, she arranged for karyotyping to be carried out, meaning we had all bases covered.

 

I knew it would take a while for test results to come back, but my doctor was confident that we had just been extremely unlucky with our recent attempts at expanding our family, and we didn’t necessarily need to hold back on trying. We were also informed that even if the aPL test showed high levels of antibodies, and I was already pregnant, they would just treat me with a simple aspirin to avoid further miscarriage.

 

I did not expect the phone call I received last Wednesday…

 

I’d had a few missed calls, which a quick Google search had revealed were from my local hospital, and I was stressing out about all the possible reasons for them calling. When I eventually answered the call I’d been dreading, I felt like my whole world fell apart – my test results showed a chromosomal abnormality and I was diagnosed as having a Robertsonian Translocation of chromosomes 13 and 14.

 

I’d stopped paying attention to the doctor on the end of the phone after she’d delivered the horrible news, but after trawling through the internet looking at various medical sources, I came across the following explanation and image, which basically describe the condition and its implications for having children:

 

‘A translocation means that a piece of one chromosome has broken off and stuck on a different chromosome. Chromosome translocations cannot be repaired. If a translocation has not resulted in any genetic material being lost, it is known as a balanced translocation. Balanced translocations do not usually cause any medical problems. This is because all the genetic material is present, even though it is in a slightly different arrangement.

Robertsonian translocations are a particular type of balanced translocation that get their name from an American scientist who first described them. Robertsonian translocations only involve certain chromosomes (numbers 13, 14, 15, 21, 22). These chromosomes are different from the other chromosomes because they have a long arm and a very short arm. In a Robertsonian translocation, the short arms of two of these chromosomes are lost and the remaining long arms join together. As the short arms of these chromosomes do not contain important genetic information, this translocation is described as balanced and has no effect on a person’s health.’

 

To put it simply, my genetic abnormality has no effect on my own life, but has serious implications when I attempt to have children. As you can see from the image, there are six possible outcomes which arise from successful fertilisation of my eggs with Paul’s sperm (he’s normal by the way!):

 

1. Normal – the baby inherits both of my good copies of chromosomes 13 and 14 (along with Paul’s), and the pregnancy should progress to the end with no problems.
 

2. Balanced carrier – this is what my own chromosomes look like and is caused by inheriting my ‘double’ chromosome and the normal copies of Paul’s chromosomes. This pregnancy should also proceed to the end, but the child will be faced with the same difficulties as me when they attempt to have children.
 

3. Trisomy 13 – the baby inherits my ‘double’ chromosome and my normal copy of chromosome 13 which, when combined with Paul’s set, results in three copies of chromosome 13. Babies with this genetic makeup are diagnosed as having Patau syndrome and can either be still born, or die within the first few days of life, with very few surviving past their first birthday.
 

4. Monosomy 13 – the baby inherits only my good copy of chromosome 14 which, when combined with Paul’s full set, leads to only one copy of 13 being present. This is lethal and results in miscarriage.
 

5. Trisomy 14 – This is similar to trisomy 13, except it involves my ‘double’ chromosome and my normal copy of chromosome 14, resulting in three copies of 14 being present. This form of trisomy is much less compatible with life and (from what I can tell after searching the internet) results in miscarriage.
 

6. Monosomy 14 – this is the same as with 13, except involves, instead, only one copy of chromosome 14 being present. Again, this is lethal and will result in miscarriage.

 

So, when you look at all the possible genetic outcomes from my eggs, you can see that only two of these possibilities result in ‘success’ for us. If you also take into account the statistics for miscarriage as a whole, my chances lower even further. The NHS website states that 1 in 6 women, who know they are pregnant, will suffer a miscarriage, meaning that the normal rate of success is 83%. Combine this with my 33% and my overall chance of success is only 27%!

 

You can imagine our devastation when finding out this news, especially when we’ve already been blessed with two fantastic kids! Despite this, when I consider all the times I’ve been pregnant, my actual success rate is 28.6%, so we’ve not strayed that far from the statistics.

 

We are now faced with the difficult decision of whether to keep going, or stop and be content with what we have. People would argue that I already have the perfect family, but it’s difficult to let go of a dream when it’s already a focus in your mind. Don’t get me wrong, I am grateful for my family, but I don’t want this year’s losses to be the end of my pregnancy experience…

 

For the time being, I am going to wear my baby loss awareness ribbon and continue to look to the future – while this has been an awful blow, I hope discussion with a genetic counsellor may provide a glimmer of hope for our family.
 

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