Showing posts with label chromosomal abnormality. Show all posts
Showing posts with label chromosomal abnormality. Show all posts

Monday, 9 March 2020

The 18 Week Amniocentisis

Amniocentisis at Birmingham Womens Hospital - Fetal Medicine

Monday morning finally rolled around, my sister in law, Leo and I all hopped into the car to head to Worcester (I will most likely address why Leo was there in a future post).

I knew I was heading into the eye of the storm again, that my few days of ignorance were about to be blasted out of the water, but still I had to go and hear what the consultant at Fetal Medicine thought about our little Nugget.

We arrived in Birmingham with time to spare, by now I know exactly where to park and how to get to where we need to be. We set up residence in the cafe and looked over the previous scan notes. My sister in law felt positive but I knew by the end of this appointment that feeling would have been knocked out of her the same way it had been for me over and over again.

We made our way towards Fetal Medicine and were pretty much shown right in. Instead of being taken straight to the sonography room like in the previous appointments, we were taken to one of the little sitting areas where I signed my consent for the Amniocentisis procedure that they were going to be carrying out.

They talked through what would happen, I signed the consent form and we were taken into the all too familiar room where the scan was going to take place. 

I hopped up onto the bed and the scan commenced straight away. There were 2 consultants in this appointment and they took it in turns to do a thorough scan of little nugget. 

They confirmed all the findings that had been found at the previous scan, looked at the heart in some further detail and told me that the amniotic fluid was now considered low at 1.4cm in the deepest pool.

This could be a sign that the kidney’s aren’t working as they should, which of course sent more alarm bells ringing. The second consultant Dr Kirby took over the scan and concluded with the first consultant. 

I’ve learned that these scans are usually performed in complete silence, the dr’s concentrate on what they are looking at and it doesn’t feel like the time to ask questions. I can’t help but feel though that baby measuring smaller and being in more awkward positions (combined with the low amniotic fluid) will mean that it’s harder to see exactly what is going on, and does leave room for error.

Error and hope.

With the scanning side of the appointment wrapped up, they made preparations for the Amniocentisis to take place. A midwife joined the 2 consultants and they began to prepare my tummy for the procedure. 

A very cold solution was poured all over my stomach to clean the area, paper towels were placed over my upper tummy and where my leggings finished to keep the area clean. They spoke to me as they were preparing everything so that I knew what was going on, I saw the needle come out but I couldn’t see much from behind the paper towels.

I was told that the area wouldn’t be numbed (although I can’t remember why they said this was the case), in fact it all seems a bit blurry now. I felt so calm before the procedure, but when it was actually starting I felt a bit uneasy.

The baby was still visible on screen but I couldn’t see exactly what was going on, they told me that they were ready to perform the Amniocentisis and that I needed to stay very still. 

I thought the staying still part of all this was going to be a doddle, I’ve had blood taken many times and I never flinch, but of course the Amnio is a needle going into your lower abdomen, which as it turns out is a very sensitive part of your body. The needle pierced my tummy and I automatically flinched, I couldn’t help it. They told me to stay still again like I had any control over my body at that precise moment in time, of course I didn’t want to be moving, I knew exactly what moving might mean for my baby. 

It’s like when you get stung by a bee, you automatically move away from the sting, and that’s the only thing I can compare the Amniocentisis  too. 

A bee sting.

It wasn’t painful, and when the needle was in you didn’t even notice it was there, I did feel a bit conflicted about having amniotic fluid taken out of the baby’s sack when it appeared that it was already too low. 

It was all over as quickly as it had started, the needle was taken away, the paper towels removed and my tummy dried. My tummy just felt normal, like nothing had happened but I was very aware that I needed to pee again! 

I needed to go back to the little room for the debrief, but first I needed to pee. It was only when I went to pee I realised that I had shooty pains in my lower tummy. It felt like my insides were going to fall out, and the shooty pains felt like what you might have when you have a bladder infection. 

I soon worked out that the shooty pains were worse when I was walking around, not so bad when I was sitting. I went and found a seat in the same little room we had been shown to when I had arrived, and Dr Kirby talked me through what they had seen.

His prognosis was bleak, 'if multiple anomalies confirm, the prognosis will be adverse in terms of mortality and morbidity whatever the underlying aetiology'.

To me that reads, that if all of the findings on the scans are 100% there, regardless of whatever is wrong with Nugget, there won't be a good outcome for baby.

The consultant expected the Amnio results would highlight a Chromosome Anomoly, and I could tell he was pondering Trisomy 18 - Edwards Syndrome and he mentions it more than once in the sonography report that was later handed to me.

I was basically told that the abnormalities on their own would usually be ok, but it was the combination of the abnormalities that pointed toward them being underlying issues in a bigger picture.

Ultimately this appointment solidified what I thought was about to happen. I expected the Amniocentisis to come back and confirm the diagnosis of Edwards Syndrome. My next step then would be to be booked in to have labour induced, to meet and say goodbye to my baby all at the same time.

I had accepted what I was told at my scan on Tuesday, so this time no tears fell. The consultant must have thought I had a heart of stone, this time I stayed composed and accepted everything that I had been told. 

I left the hospital knowing that I would be back on Thursday for the echo scan, but I knew that at some point on or before then... I would have the first set of results back.

I didn’t feel anxious, I didn’t feel like I was waiting for these results, because I didn’t feel that they would have good news. 

Thankfully baby came through the Amniocentisis which for me is a big milestone in itself. The shooty pains weren’t overly painful and didn’t require me to take any paracetamol for them. 

Over the next few days it was like it had never even happened. 

Wednesday, 4 March 2020

A Second Opinion: Chromosomal Disorder?


Edwards Syndrome T18

They say life is un-fair, but I have always been a happy go lucky kind of girl. When I get kicked, I get back up, dust myself off and try again. I think this time I may have been kicked a little too hard, I don't want to get back up, I don't want to dust myself off and I definetly don't want to try again.

They say lightning doesn't strike twice, they say that pregnancy after a loss is your rainbow baby. No one ever said that this pregnancy was going to break me beyond any recognition of myself. 

After the gender scan that ended in tears on Saturday, I got in touch with my life line Nicky. A lady that has been incredible throughout this entire process. From finding the fluid at 10 weeks, to being available at the end of the phone when she didn't have any obligation to actually help me. She did so out of the goodness of her heart, and I will be forever grateful for that.

I text Nicky first thing Monday morning, I told her about the gender scan and the abnormalities that were flagged. Nicky was over at Worcester Hospital that day, she put me in touch with midwives based there, they arranged for me to see my consultant for an ultrasound the following afternoon. 

I think I had convinced myself of what was going to happen, I think I had accepted that there was something. What that something was though I didn't know, and I was hoping that the scan may shed more light on what was going on. Hoping that it was something that we could work with and ultimately bring our baby into the world.

My friend came along with me to this scan as Luke was on a course, this appointment was one that I know I wouldn't have been able to obtain if it wasn't for Nicky. I know if I had simply called the hospital, they would have told me to wait for the Fetal Medicine appointment that had been scheduled for this coming Friday... So I told Luke to keep his course going, that we probably wouldn't get much more information at this scan, that this was just to double check the concerns.

This was the first time I had met my consultant, she's a wonderful lady, very thorough, to the point but caring at the same time. Someone that I could work with, I have realised that I need to know what they think, I need facts and honesty. I deal better with the truth than speculation.

I lay there on the consultation bed as she looked around at what was visible of baby. The views were not good, I could see flashes of spine, heart and head as she inspected them more closely, but nothing that resembled a baby. I have found this at a few of the scans, but whenever Nicky has scanned me I have seen an entire baby. 

I had been asked to come with a full bladder, but I knew that I would be asked to go and empty as that seems to present the best views of baby. I was first asked to empty half, and then when that didn't help, I was asked to return with an empty bladder.

The consultant told me that baby was really difficult to scan, that they still looked very curled up and at this stage (17 weeks) they would expect them to be less like this now. I stared at the monitor that was angled towards me, and we sat in silence as she inspected Nugget and concentrated.

I glanced over every so often to see if her face gave anything away, but the only thing I could tell was that she was really thinking about what she was seeing. I watched her label the 4 chambers of the heart, look inside babies head and saw a foot pop into view. 

Eventually the consultant spoke, and she went through so much more than anticipated with me. She had concerns, she confirmed that eveyrthing that had been seen on Saturday was there (my second opinion), the heart tilts to the left and appears abnormal, she only saw one pulmonary artery in 3VV (Im not sure what 3VV is) and the left outflow tract was seen arising from the left ventricle but she was unable to demonstarte in 3vv (we would need a detailed heart scan with fetal medicine). 

The posterior fossa appears abnormal with an enlarged 4th ventrile and Nugget's head looks dolicephalic (long and cone like is my understanding). The babies feet appear rocker bottomed and there were things that couldn't be looked at due to the visibility conditions...

I asked her what this could point towards, not for a second thinking she would tell me.

All of these markers together point towards a chromosomal anomaly, and she believed that it was Trisomy 18 - Edwards Syndrome.

Ironically and heartbreakingly this is one of the trisomies that the Harmony Test came back low risk for. I thought we had been cleared against Downs, Edwards and Patel.

Edwards Syndrome is caused by the presence of a third copy of all or part of chromosome 18. It affects many parts of the growing babies body, often results in smaller babies and they are prone to heart defects, small heads, small jaws, clenched fists with overlapping fingers and severe intellectual disabilities.

Edwards is not a nice condition, and right from when I first heard about it 7 weeks ago, I knew this would be one of my worst case scenarios. I said right then and there that this would not be a quality of life I want for my baby, but not once did I expect this to be the actual outcome. Babies often die in the womb, or not long after birth. If they do live there are ongoing problems and many die within the first year.

I don't think I could put my family though that. I can't do that to Leo.

I was shown to a little room away from the waiting area and the many happily pregnant ladies, Nicky came in to see me and gave me a hug. She said how un-fair it all was, and boy did I feel that. It feels incredibly un-fair but as much as I want to shout and scream that, what's the point? What is it going to change? Achieve? 

Absolutely nothing. 

I was shown out the back so I could avoid seeing everyone, I drove home. I picked Leo up. As soon as we got in the car, he asked me how I had gotten on with baby, and I couldn't lie.

I was going to wait until Friday to update him, but Leo deserved to know. I feel like I have dangled carrots of what could be, and then ripped them away, not once but twice. 

I have told Leo he is going to be a big brother twice, and each time I have taken it away again.

Leo fell into my arms and didn't move, when he looked up he had tears trickling down his face. The what could have been, the joy that we should feel just flashes before your eyes and dissappears like the spark of a firework in the bleak nights sky.

Nothing is set in stone right now, we need to do the Amnio this Friday, have additional scans and wait for the results. I know what has to happen if it is Trisomy 18, but if there is a chance it's something else, I need to know. 

For now though I feel an acceptance, this wasn't anything I did. This was pre-determined at conception, just like the gender, just like how everything else is put together. 

It doesn't make it any easier to digest, but I know how I have to proceed, and when it comes to making those hard decisions I know that I need to be armed with all the facts, have complete certainty and go from there.


Thursday, 16 January 2020

10 Weeks Pregnant

Nuchal Translucancy (NT) Cysyic Hygroma baby
It's been 2 weeks since my private scan, and the last week has gone really slowly as I have been waiting for my dating scan with the NHS. This isn't the 12 week scan, but a scan to see how far along I am due to my cycles being irregular. 

Everything has been going perfectly, I was happy knowing that at 8 weeks there was a strong heartbeat, and this did help settle my mind.

I have felt less tired in recent weeks and I have put that down to the placenta starting to take over for the baby's nutrients. I am back to later nights at 10 weeks pregnant, Luke and I have been working our way through the Alien movies each evening once Leo has gone to bed.

One thing that has become very obvious is that I am not a fan of the first trimester. It's so hard being pregnant and not knowing if things are progressing as they should. You can't feel your baby move and you literally have to have blind faith that everything is going to be ok.

I think this is even more true when you don't have full blown pregnancy symptoms, for me all I have really had is tiredness and sore boobs. I have developed a few food aversions again, Halloumi is off the menu for starter, I don't know what is about this cheese when I am pregnant but I hate it.

The other night I cooked up a beautiful big steak to have in a salad, but when it came to eat the steak it just didn't taste right. The dog thought he had died and gone to heaven when the opportunity to demolish the steak came about, I stuck with my feta and salad!

Nuchal Translucancy (NT) Cysyic Hygroma baby

The NHS Dating Scan

Today, the 16th January 2020 my NHS dating scan finally came around. I didn't really have any feelings about this scan, I was eager to see that the baby's heart was still nice and strong, but I had just somehow decided that everything was going to be ok.

Luke and I arrived at the hospital, the same hospital that I was scanned at back in July when I was referred for my viability scan due to no heartbeat being detected. I was pleased to see that Nicky, the midwife who had seen me through my pregnancy with Leo, and also the one who conducted the scan back in July was still at the helm and doing the scan for us today.

It was in a different room to last time, a room that I felt was a safe space un-tainted by the past. Nicky welcomed us in and advised us that there was a student with us today, which of course was fine with myself and Luke. I lay down on the bed, Luke sat in the chair.

The gel was placed upon my belly and very quickly our baby appeared on the screen. I could already tell that baby had done a considerable amount of growing in those 2 weeks. At the 8 week scan Nugget was 17.8mm from crown to rump, and now at 10+5 Nugget was already 39mm!

I felt instantly relaxed as soon as I saw our little baby waving around on the screen, there was constant movement and the heart was beating just as it should. Nicky then said 'I do need to make you aware that there is more fluid than we would like behind the babies neck'.

This is usually highlighted around 12 weeks when they carry out the Nuchal Translucency (NT) check, this is the fluid that collects under the skin behind the babies neck. I recalled my midwife Louise talking about this check at 12 weeks, I remember saying that I wanted it.

Not for one second did I think it would be a cause for concern.

I didn't realise the severity of what she was saying right away, I just lay there in shock staring at our baby on the screen. Nicky explained that fluid behind the babies neck was a normal part of development for babies in the womb, but if the baby has more fluid than usual.... It could be an indication of a possible health problem.

Straight away my happy safe little bubble burst.

Nicky took some more measurements and confirmed that our little Nugget had 4.7mm of fluid and then talked us through the possible scenarios that could be linked to an increased NT.

Nuchal Translucancy (NT) Cysyic Hygroma baby


- Trisomy 21 otherwise known as Down Syndrome - It's caused by an extra chromosome in your cells and occurs by chance at the time of conception.

-Trisomy 18 - Edwards Syndrome - I had never heard of this one but as soon as I took to Google I hoped to God that this wasn't the case. Edwards Syndrome is a rare but serious genetic condition that causes a wide range of medical problems.

-Trisomy 13 - Patau Syndrome - Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

- Genetic Syndromes

-Heart Abnormalities

- Increased risk of miscarriage


High NT (Nuchal Translucancy) Report

Nicky said that although it could be something, it may very well be nothing. Nicky talked us through the next steps and advised that following the scan today I would now be receiving consultant lead care for the rest of my pregnancy.

It was too early for the screening blood test to take place, and we discussed Chronic Villus Sampling (CVS), this is a diagnostic test that they can carry out between 11 and 14 weeks of pregnancy. It's an invasive test that I never thought that I would have to consider. It's where a needle is passed into your lower abdomen and into the placenta where cells are harvested and tested to look for the above chromosome abnormalities.

I looked at Luke for reassurance on what to do, the CVS had a 1-2% risk of miscarriage, we discussed what to do. We decided that we should be fully prepared and know what was happening, and the sooner the better.

In the seriousness of the scan I completely forgot to ask to purchase some scan photos. I had started walking down the corridor by the time I realised the error of my ways. I rushed back to the room like a mad woman, and Nicky had already closed the screen. She told me that she would post the images to me free of charge.

I returned to work and as I had already told the lady I work with about the pregnancy, she was of course excited to hear how I had gotten on. I explained that there was good news and some not so good news and went into the whole sorry tale.

Of course I didn't manage to stay composed and the tears did fall.

In all of the worry about the worst case scenario I had completely neglected to mention that the baby's due date was my birthday!

Our little nugget is due on the 8th August 2020! Exactly 31 years since I was born.

I am determined to remain positive, I will see this through and hope that Nugget is developing as he should be.

While I was back at work, Nikki text me and said that she had printed the scan photos off already and if I wanted to pop back that afternoon I could. When I did pop back she was in the middle of someone else's ultrasound but popped out to personally hand me the scan photos. She asked me to keep her updated and told me that she was crossing her fingers for me.

Nicky made today bearable, she equipped me with everything I needed to know (and writing it down here has really helped).

The NHS have been wonderful today, from Nicky and the referral that she has made for me to Worcester calling me up by 2:30pm (I expect this is where I will be seeing the consultant for the rest of my pregnancy) and by 4pm I had Birmingham's Fetal Medicine Department on the phone arranging an appointment for the CVS for Tuesday 21st January at 4pm!

The service today has been incredible, it may not have been the news I was hoping for, but I feel like we are in good hands.