The 20 Week Scan & FULL Amniocentisis Results

The 20 week scan is usually something you cannot wait to experience. To see how much your baby has grown in the weeks following the dating scan, but as mine rolled around I was anything but excited. 

I was actually really anxious, and with good reason.

Those that have been following my pregnancy will know that it’s all been a bit of an emotional rollercoaster. A high Nuchal translucency test revealed 4.7mm of fluid on the back of our babies neck at 10 weeks, we then had a low risk NIPT (Harmony Test) for the three trisomies and began to try and relax and enjoy the pregnancy. Then at a private gender scan the rug was pulled from beneath our feet and we landed flat on our backs, when the sonogropher found a number of ‘differences’ in our baby. 

That threw us back into the waiting arms of fetal medicine, and we discovered that on top of the structural concerns for our little baby, we also had the worry of Oligohydramnios... Also known as low amniotic fluid. 

The 20 week Scan day arrived and was set Thursday 19th March.

Today.

I sat in the local hospital waiting area with Luke and Leo, wondering if they would both be allowed in... Leo was off school as we have been self isolating due to the latest government advice surrounding Covid 19 and pregnant ladies, and lets face it... I don't need anything else to go wrong at this stage.

When my name was called, they advised that Luke would have to stay outside with Leo, so I went in alone. Luke hasn’t seen baby since the last time he was able to take me to Birmingham Women’s hospital weeks and weeks ago, which thinking back was the 12 week Fetal Medicine Appointment.

I couldn’t get my head around how Leo was allowed in to the fetal medicine appointment and even witness the Amniocentisis... but not here. 

I had spent the week from my echo scan to my 20 week scan guzzling water and peeing like a race horse. I hoped and had everything crossed that when the Doppler hit my stomach at my 20 week scan, we would see the baby more clearly because the fluid was returning. 

Of course, that was not the case.

The fluid was now very low, so low that the sonogropher couldn’t measure the deepest pool because there wasn’t one. I believe that there is still some fluid around baby, but the sac is almost comparable to a straight jacket. Baby boy cannot really move and that would explain why I have not felt him, and at this stage I have resigned myself to the fact that I probably will never feel him wiggle from within me.

I had explained to the lady scanning me how this was so far from your average pregnancy, and she confirmed that she had already read my notes and didn’t know how much help she would be to me. I was already aware that this would be the case, so it wasn’t a shock.

All I really wanted and needed from this appointment was confirmation on the amniotic fluid. This lady did her darnedest though, she tried to look at baby in as much detail as she possibly could, and it’s always interesting to hear how people describe the anomalies that they are seeing.

When she looked in baby boy's head she said that the cerebellum ‘looked small but normal’ - I had been told in previous appointments that it was ‘abnormal and small’ but not that it was abnormal just due to its size. This confirmed that it was the right shape, but small.... but considering baby is well below the plotted expectancy for 19+5 isn’t that to be half expected in some way, shape or form?

At just under 20 weeks my little baby boy is measuring around 17 weeks, around 2 weeks below where he should be. Low amniotic fluid does restrict growth, so I would guess that is also to be expected.

Baby boy’s hands were up by his face, it was almost a comfort to know that he could soothe himself with his little hands. This was the first scan since 14 weeks that I had seen the baby’s profile and at least he seems to have resigned from his breech position. To obtain the image you can see at the top of this post the sonogropher had to bring the doppler all the way over to the left side of my stomach, as simple being above baby didn't generate much that looked like a baby at all.

The sonogropher printed me some scans and told me that she couldn’t get a frontal view of baby’s face to look and see if the baby was effected by cleft palete, but in the next breath said ‘but given everything else would it be the end of the world if the baby was born with cleft palete?’

Of course the answer to this was no, it wouldn’t be the end of the world. What I wouldn’t do to bring this little man into the world and give him a fighting chance. 

This pretty much concluded the scan, I was shown back to the waiting area while the report was drawn up. When she brought it out a few moments later she wished me luck, but I could see the sorrowful look in her eyes, she didn’t think that this baby would make it even if she didn't say it.

I have to admit that seeing that low level of fluid had me on the same page. How could a baby grow and develop with such a little amount of fluid? Especially during this crucial time of the lungs developing. 

I explained everything to Luke, and Leo for that matter. We have been very open and honest about all that is going on as ultimately Leo needs to be as prepared as possible for what and most likely will happen. 

We arrived home and I resumed my fetal position on the couch with a large glass of water. I flicked through Netflix undecided on what to watch, then my phone rang. No Caller ID could only be the Women’s Hospital, and this could mean the full array results from my Amniocentisis were back from the lab. 

The Fetal Medicine Midwife Sarah confirmed that she did have my results. I was told that they were ALL CLEAR, there were no chromosome abnormalities with our baby boy. Atleast not anything that they test for.

This should have made me happy, put a big smile on my face and given me hope in my heart, but seeing my little baby on today’s scan with no where to move or turn... there was still a problem. A problem that meant I probably won’t get my baby boy at the end of this long, long road.

A problem that we didn't even see coming, despite all of the other mountains we have had to climb. After passing each test that has come our way, baby boy is still having to climb mountains, but those mountains require him to be in his safe bubble of amniotic fluid, fluid that keeps decreasing, and stealing hope.

I filled Sarah in on the latest scan, I asked if my baby would be in any pain. I was told that he wouldn’t be and that we would go through ‘all the options’ on Tuesday at my next echocardiogram with the consultants. 

I think I can hazard a guess at what the next options may present to me. I’ve been thinking about it all long and hard, and I am just waiting for them to tell me or at least present the option of termination.

 I don’t have it in me to end my baby boys life. 

I’ve already decided that I will stay pregnant as long as I can, I will say no to any offer of termination, I will let my body decide what happens, and I will keep fighting for that little heartbeat even though everything seems so bleak.
 
I am 20 weeks on Sunday - Mother’s Day, it’s just to cruel to let us get half way through this pregnancy after everything that we have been through and done for us to just exhaust all options now. 

I remember writing in a previous post that my biggest milestone was to get to 20 weeks, I’m almost there. Baby boy still has a strong heartbeat and I know that we’re still 4 whole weeks off being ‘viable’ and I most likely won’t get that far... but I have to try. I have to try knowing that even if we did get to 24 weeks that he could be born and we would most likely lose him anyway, but I have to try.

I can't be the one resposible for stopping his little heart beating. I can't be the one to ultimately decide to end his life, and I wont. 

I’m weirdly ok about it all, I am prepared for the worst. It won't be some big shock if anything does happen.

I’ve somehow accepted this, but I can’t give up and I won’t give up. 

Luke has said that he will support whatever decision I have made, and it might sound crazy but I’ve already made my mind up. 

One way or another I’m seeing this through for my baby boy. 

18 Weeks Pregnant: Echocardiogram & First Amniocentisis Results

It’s Thursday and it has now been 4 days since my Amniocentisis procedure, I haven’t been waiting for them so anxiously like I did the NIPT Harmony results, it almost feels like this will solidify my next step. Confirm that this baby is not going to be with us for the next stage of our journey.... it’s a horrible thought but somewhere between the scan at Worcester at 17 weeks and the Amniocentisis itself... I have accepted and prepared myself for the most likely next step. 

My brother very kindly offered to take me to the echocardiogram scan at Birmingham Women’s Hospital. Luke has been away (You can always count on everything happening when you are on your own) and I just don’t feel comfortable driving to the hospital, especially since it is almost always bad news in some way shape or form. I finished work at 12pm and dropped Leo with my brother, then we hopped in the car and made our way to the city.

Just as I was directing my brother towards the Women’s Hospital, my phone rang and interrupted the sat nav. It was an unknown number and I knew straight away who it was, it was bound to be the hospital with my results. 

The lady Introduced herself and she was indeed from the Women’s Hospital, and she did have the first set of results from my Amniocentisis. She asked me if I wanted them now or at the appointment, part of me wanted to be put out of my misery and just know, but the other half said to wait as my poor brother needed me to direct.

I told her I would wait and find out at my appointment, suddenly I felt nervous. I was going to find out very soon whether baby did have Trisomy 18 - Edwards Syndrome or whether we had cleared this first milestone. 

We sat and waited, the appointment time came and went and I was feeling anxious. Eventually we were called in and the first thing I said was 'I hear my first set of results are in'. The two midwives confirmed that this was the case and one of them left the room to collect the report. Somehow I managed to get the news from the second midwife before the first even entered the room again.

The first set of results told me that baby was clear for Trisomy 13, Trisomy 18 and Trisomy 21.

Our baby did not have Edwards Syndome! 

Our BABY BOY did not have Edwards Syndrome!

After asking about the findings on this result, my next question was of course was I carrying a baby boy or baby girl, since my gender scan at 16 weeks was hardly confirmation.

It felt like a small victory in a battle that was yet to happen let alone be won, but it was a victory all the same. Suddenly the flame of hope burned again and filled the dark room that had been engulfed when that flame of hope had been so viciously extinguished.

I don’t think I can explain how nice it is to have hope in all this, that there could somehow through all the tears and uncertainty be a happy ending. When that hope was completely taken away with a potential prognosis, it really did feel like the fight was over.

Now here we were, another appointment but for the first time in 10 weeks, we knew for sure that our baby didn’t have one of the 3 trisomies. There could still be something uncovered in the full array result, but for now this win needed to be marked.

I lay on the table and the cardio midwives got to work, of course due to the baby's position and the low amniotic fluid, it meant that not a lot could be observed in great detail. 

The scan should have lasted 45 minutes, but baby boy was just not in a position to have his heart looked at in anymore real detail today. He’s measuring smaller and they said the optimum time to look at the fetal heart was around 21 weeks, but with baby being smaller that might be later on with us. 

They confirmed that the 4 chambers of the heart were there, that it was deviated to the left and they could see one outflow, but we left with no more real knowledge on baby boys heart. 

They were surprised that no further appointments had been booked for us, but with Dr Kirby’s thoughts on Trisomy 18, he must have thought it was the end of the road for us too…

The next step in the plan is to wait for the full array to come back, this can take up to 2 weeks. It would show if baby had any other chromosome abnormalities that the Amnio tests for. Even if that came back clear... there could still be something that they don’t test for, and chromsome abnormalities apart the ultrasound markers alone present their own set of challenges.

I brought up Noonans and asked if this would be a possibility to test for if the next Amnio result came back clear, they advised that if the consultant thought we fit the criteria then yes they would test. 

I think the midwives took pitty on me, as when they handed me the report they also gave me 2 scan images. Not that you can see a lot at all... I can see that it's the side profile of baby's head, but I can also see just how low the amniotic fluid is around him.

I did ask if there is anything I can do in order to maybe produce more fluid, but they said there was nothing. I've really upped my water levels and I am hopng that when we go for the next scan on the 19th March (which should be my 20 week scan... but this will be at 19+5).

Once the full array is back they will get us back in, we will need to see the consultants for another echocardiogram to see if they can look at the heart in more detail…

So we’re back in limbo with no real idea what is going on, will we have a baby or won’t we? No one can actually tell me because no one actually knows.

But we do know I’m growing a baby boy.

We do know that we will continue to fight for our baby boy and hope for the best possible outcome.

Right now though I’m trying to make do with the clothes that I have, I see no sense in buying lots of maternity clothes that I may not need. Right now we aren’t buying any baby bits because the unknown is just that, we just don’t know if we get to have our baby at the end of all this.

The 18 Week Amniocentisis

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. 

Suspected Chromosomal Anomaly: Keeping Hope

The scan from 12 weeks. How can such a perfect looking baby be so poorly?

It’s coming up to 2am, I have been reading all sorts online in the hours since I came to bed. Luke is fast asleep next to me, but sleep for me will not come.

Since the scan on Tuesday I have to admit that I felt defeated, that this pregnancy was destined to end without a baby. Although we don't have an official diagnosis, I took the prognosis to mean one of almost certainty. I felt myself take a step back from the pregnancy and my baby and somewhat disconnect.

I don't know what changed today, whether I just needed time to absorb what I had been told, whether my gut feeling had taken over the inclination to just lay down and not move, or whether the fight for my babies life won out, something made me take out the report from the scan, have another read and start collating information online.

I started out reading about Edward’s Syndrome and how bleak the diagnosis is. I have been in forums and tried to see if there is any hope, any hope at all. I know for some people they would carry on just so they could hold their baby for anytime that they may have, but for me Edwards is just to cruel... If it is that I will have to take actions to ensure my baby feels no pain.

Something in me though doesn’t believe it is Edward’s Syndrome (T18), It’s just a gut feeling, a sense that I believe is tied to the harmony test coming back low risk for the 3 main trisomies. I can't get my head around how it would come back low risk for something that my baby would have?

It has to be something else...It has to.

Following the scan on Tuesday I haven’t listened to baby on my at home Doppler. I didn’t see the point, I know the heartbeat sounds as it should, but I also know what shows on the scan. If this pregnancy was going to end in termination for medical grounds... Why listen to the beat of a heart that ultimately I would be responsible for ceasing, for stopping forever?

I cancelled my belated 16 week midwife appointment, I messaged explaining about our bad news and how I didn't think I needed the appointmnet anymore.

I couldn’t justify going to this appointment after the news, the way I have been has been pretty up and down. One minute I am ok, the next something pulls the rug from beneath me again and the tears don't feel like they will end. I would have just cried at this appointment, she would probably check the heartbeat and tell me that everything was ok, when I know that isn't the case. I already knew the heartbeat sounded normal and healthy. It was the findings on the scan that we’re sounding the alarm bells.

I’ve spent the rest of this week coming to terms with what I had been told. Up until tonight I have to admit that I had lost all hope, I have been reading into terminations for medical reasons because I don’t want to inflict pain on my baby. I don’t want to see them suffer. I was even reading into baby cremations and ash jewellery.

My internet searches went from your typical pregnancy symptoms to tragedy overnight.

I’ve had moments where I’ve completely lost it, like Wednesday when the pushchair I had ordered arrived. I had literally ordered it the night before the gender scan when I believed everything was ok, ironically if I had waited one more day, I wouldn't have ordered it.

I cried angry tears, sad tears and disappointed tears. Then somewhere among it all something dark and twisty made me whole heartedly laugh. 

Tomorrow morning I should have been sitting my appointment at Fetal Medicine in Birmingham, but for some reason yesterday they called to cancel that appointment. I now have to wait the entire weekend to see them and finally get my Amniocentisis that will lead me to more answers, and more difficult decisions on this already rocky road.

Part of me is annoyed and incredibly angry that I have to wait even longer for more answers, but there's another part of me that is relishing the time. For a few days atleast I can pretend everything is ok, I can live in ignorance and wish for a happy ending. 

I refused to check the baby’s heartbeat at home right up until tonight, but something changed within me this evening. Despite everything that happened this week, despite where my mind had gone I don’t feel I can give up all hope just yet.

I need to pick myself up from the position I have curled up in on the floor, look into every scenario, and have hope that it may not be Trisomy 18. It could be something else. Until the results from the Amnio come in, I have to believe that there is hope.

I’ve been reading everything I can, trying to ponder if it could be any other condition than trisomy 18 and a promised death sentance.

It feels weird saying I’m willing any other condition to fit, to almost will a diagnosis on your unborn child, but when you have been told it could be a condition that means you won’t get your baby at the end of it, a different condition opposed to no condition is the next best thing.

From what I have been told my baby is showing on ultrasound, there is a chance it could be a couple of other conditions, but I can't help leaning toward Noonan Syndrome.

From this latest ultrasound these are the notes that I have on my report:

- Despite BMI of 20 very difficult views as baby very curled up and breech.

- Placenta appears bulky.

- Posterior Fossa appears abnormal with dilated 4th ventricle.

- Lateral Ventricles 5.4mm - This is a normal measurement.

- Dolicephalic head shape (longer than expected).

- Unable to get clear views of spine (the scan images were not a good view).

- Bladder not seen (but it has been on previous scans).

- Heart views abnormal: Abnormal Axis, deviated to the left. Rate normal but brief bradycardia (where the rate drops, and this can happen in perfectly healthy babies). Only Pulmonary artery seen in 3VV. Left outflow tract seen arising from Left ventricle but unable to demonstarte in 3VV. Right heart appears enlarged.

- Unable to visualise face clearly (thanks to the view again...)

- Feet apear rocker bottomed.

- Aware high chance of chromosomal anomaly.

Not forgetting that at the gender scan, it was mentioned that it looked like the baby had potential scolosis of the lower spine (I am learning so many new medical terms in this pregnancy), although the spine wasn't visualised for further comment on this occasion.

The consultant did talk about potential Hypoplastic Heart Syndrome, so that could account for the heart, but I can't recall if she said Left or Right. What I need to understand is whether the findings on their own without Trisomy 18 give my baby a good chance. I need to have the echo scan to find out more about Nugget's heart, and I need the views to be better of baby.

I am wondering if a fetal MRI could be an option, or if an internal scan will provide a better insight to what is going on with baby. With the views on the scan being less than poor, I need to be completely certain that this is not affecting the findings.

 For now all I can do is wait, and hope. Even with all of the above listed against my baby, if it isn't Trisomy 18, then there is hope. If there is a quality of life for my baby, I will fight tooth hook and nail for life.

For now all I can do it wait and hope.



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