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Baby Max arrives after mum trials chromosome abnormalities test

After one devastating pregnancy loss after another, Charlene and Neil were offered a new PGT-M technique of 'karyomapping' to help prevent the miscarriages.

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Neil and I met when we were very young. After 13 years together we married and planned to start a family. To our delight I got pregnant straight away and in 2007 we had a beautiful healthy daughter - Lois. I had really enjoyed my pregnancy and we loved being parents, so we decided to start trying for a sibling for Lois as soon as possible. 

Again I got pregnant quickly but miscarried soon after. A few weeks later I was pregnant again but to our horror this too ended with the loss of our tiny baby daughter at five months. It is impossible to describe the utter devastation of giving birth to your child, holding her lifeless body and then having to leave her behind at the hospital. We were broken, our lives had changed forever.

The grief was immense, the start of a very dark period of our lives. A post mortem suggested that a particular genetic syndrome might be to blame, but could not confirm. We were encouraged to try again. We were so desperate for more children we somehow found the strength to carry on. Again I fell pregnant very quickly but after another early miscarriage and then two more devastating losses of a son at four months and another daughter at 13 weeks, we refused to continue, despite pressure from the geneticists that continuing naturally was our best chance.

It had now been confirmed that our recurrent losses were because of an autosomal recessive genetic syndrome - and that IVF with PGT-M was an option for us. This meant that the embryos could be tested for the genetic defect before they were transferred to my womb. I had always been so particular about being extra healthy going into a pregnancy; my diet so was clean and I wouldn’t so much as take a paracetamol, so the idea of injecting drugs into my body pre-pregnancy seemed so wrong . . .  but I knew we had no choice.

As we already had one living child we did not qualify for any financial help, so we re-mortgaged our house and went for our first cycle. Although I seemed very fertile, I did not produce many eggs, and, once the genetic testing was done there was only one embryo healthy enough to put back. However, I was convinced it would work, I had been pregnant so many times, how could we fail?  But the pregnancy test was negative, and once again we were devastated.

A few months later we had a second cycle. Again, I produced very few eggs and only one embryo was suitable for transfer. This time the test was positive, but I miscarried a few days later.

I was confused. Why was I having so many early miscarriages? I did some research and suspected that my ovaries might be prematurely ageing because of prolonged emotional stress, and as a result were producing many chromosomally abnormal eggs, despite my relatively young age of mid-late thirties.

Then a friend recommended the Bridge Centre (now the LWC London Bridge) and we attended an open evening at which we spoke to an enthusiastic embryologist who explained that they were undertaking a trial of a new procedure called karyomapping. This meant that not only could they test the embryos for the genetic syndrome, but could also test for any chromosome abnormalities at the same time. This was what we’d been waiting for! 

So we met with the PGT-M genetic counsellor. She was caring, compassionate and easy to communicate with - quite different from the staff at our previous IVF clinic! – and we breathed a sigh of relief. The next step was to meet Professor Handyside who was running the trial, and it was agreed that we would take part.

I was given a mega-cocktail of drugs, but still only produced seven eggs, a slight improvement on the last two cycles. I was shaking as I received the call to say that once again there was only one embryo suitable for transfer - but this time we knew that not only was it clear of the genetic syndrome, but there were no missing chromosomes. I was terrified but deep down reassured that this time there was no reason for me to miscarry. This was our last shot, we were physically, emotionally and financially drained. 

The pregnancy was terrifying. I had some early bleeding, severe vomiting leading to an overnight stay in hospital and then flu . . . but thankfully the baby remained strong throughout. At 16 weeks after another scan we decided to tell Lois. I could barely speak for crying happy tears, we had waited so long for this moment. Lois squealed with delight and cuddled and kissed my tummy for the rest of the day. 

After a further scan we started to relax a little and to believe that maybe we would get to bring this little miracle home after all. Then at 33.5 weeks a scan (which I had requested for reassurance) showed that I had placenta vasa previa, which meant that both the placenta and the cord were covering the cervix and that if I went into natural labour the baby would be stillborn. I was immediately given steroid injections to mature the baby’s lungs very quickly, and was admitted to hospital for monitoring until a ‘planned emergency c-section’ would take place in four days time – six weeks premature! 

Just a few minutes into the operation, I heard our baby’s first cries as he entered the world. It was the most wonderful sound. They dangled his bottom over the screen briefly so that I could see. 'It’s a boy,' I said, who weighed 6 lb 2 oz! I turned around and my beautiful baby boy was in Neil’s arms wrapped in a towel, no special care unit required, just one very large and very healthy baby - Max. 

I have never felt such happiness and relief in all my life.  18 months on, Max is still a very large, healthy and happy little boy. He has a wonderful sense of humour and is very intelligent. Lois and Max adore each other.  Although the children we lost can never be replaced, every day we remember how blessed we are to have Lois and Max. The journey has been tough but it definitely makes you appreciate what you have. We have since learnt that the karyomapping trial was a huge success and that this procedure is now openly available to all couples. We feel very proud that our baby Max helped to make the promise of karyomapping such a reality for so many couples and families in a similar situation to us.

For more information on karyomapping and PGT-M please call 020 7563 4309 or complete our contact form.

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