Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ

[jlgsy94]

I went along to my anomaly scan (I am 20 weeks today going by my dates, which were confirmed at 12 week dating scan). Of course as with the other scan we've had we expected today to be problem free, however that wasn't to be so. Today, we sadly discovered that our baby has 2 problems; 1st. She has clubfoot with both feet inwards, but that is nothing compared to the much more serious concern. which is that her head measured significantly smaller than it should be, and that the ventricles in her brain are enlarged.

I was upfront with the obstetrician and asked what does this mean for the viability of the pregnancy, and quality of life, to which he said it's in doubt at this point in time.

He had a detailed look throughout her heart, kidneys, bladder, stomach, spine, all of which were fine and within normal measurements.

As I am based in Guernsey, Channel Islands, the obstetrician is going to ring the Fetal Medicine Centre at Southampton Hospital tomorrow and get back to me by lunchtime. He believes the next steps are to have a detailed scan performed over there by them, along with an amniocentesis to test for chromosomal abnormalities, followed by a possible MRI scan of the baby once I am 22 weeks.

He said there is a possibility of there being a chromosomal abnormality due to the small head/ventricles and clubfoot, but that until I've had further testing it's impossible to which if any. He also said it appeared that the back of the brain/brain stem is pushed down.

For comparison I will first list measurements from our private scan on 17th June, followed by the measurements at today's anomaly scan:

Private Scan (17th June)

HC 138.4 mm

AC 119.9 mm

HC/AC 1.15

Femur 24.0 mm

FL/AC 0.20

EFW 193g (0 lb 7oz)

Today's anomaly scan (20 weeks)

HC 152.0 mm

AC 146.0 mm

FL 30.4 mm

Cerebellum Size 17.0 mm

Following notes were also included on report:

"The head circumference is small. The ventricles are visually enlarged, less on measurement due small head size. There is talipes (clubfoot). The cardiac views appear normal. The posterior fossa is abnormal with a small cerebellum which seems low. I cannot see any spinal anomaly. Julie has a history of intracranial hypertension. She had an MRI. To see in MSG with patient's notes."

When I went back to see him later this afternoon he looked through my medical notes and couldn't find anything that specifically links the two together, which is why the next steps are to go to Southampton for further testing.

It really feels like every single ounce of my joy of life have been sucked and ripped out of my soul. Everytime I feel her moving it's like yet another piece of my heart is getting crushed, partner's too.

OH would not want us to terminate and want to be able to give her a chance at life no matter what, and I do share the same viewpoint. I am just trying to think of, depending on what the problem is, what is the kind thing to do, and what would be in her best interests..

Has anyone experienced something similar, or know of a friend/loved one who has, and could share with me outcomes whether good or bad? (can be done via PM if wanted)

[Tolleshunt]

OP, I’m so sorry to hear you are going through this. You must be extremely stressed and upset.

I don’t have any relevant experience, other than knowing a little 4 year old with hydrocephalus, who despite having a slight developmental delay is an absolutely delightful, happy little girl, who is thriving in nursery and is a joy to be around.

Thought I would give your thread a bump. Hopefully those with some experience to offer will be along soon.

[jlgsy94]

I've had a call back from my on island specialist, I've been given an appointment for Monday 8th July at 11am at Princess Anne's Fetal Medicine Unit. I'm glad i've got the appointment, but am now dreading the possible outcome of the scan. Have already cried a ton throughout the whole day today and been punching my pregnancy pillow, which I don't even want to look at right now..

Really hope that whatever the problem it's something that can be worked through, but if not then we'll have to get through it together OH and I.

[JaneEyreAgain]

I can only advise that you find someone to talk to who will listen to your wishes. This baby is yours, in whatever way he or she comes and you can make any decision you wish in regards to future steps. You can ask for a specialist midwife to attend with you on Monday or an experienced Doula might be an option. You have time to make decisions and you do not need to rush. I wish you, your OH and your baby all the very best.

[bookgirl1982]

If you need someone independent to talk to the Antenatal Results and Choices (ARC) helpline are fab.

[AngelaScandal]

OP I am so sorry you and your partner are going through this. It might be worth reporting your post to MN as you named yourself in the post

[rasberryandlime]

Although not exactly the same, our lb was diagnosed with talipes (clubfoot) at the 20 week scan, alongside some other 'markers' for chromosomal abnormalities (we had increased amniotic fluid, amniotic band, short femurs).
We chose not to have an amino and paid for. Harmony test privately instead, although it doesn't offer complete certainty as with an amino it was a choice we made after lots of talking things through.
I had 4 weekly scans during my pregnancy to monitor everything, and even despite a clear harmony test, they still didn't rule out various problems, therefore a paediatrician was waiting outside the room when I had him ready to check him over.
My gorgeous lb is now 1 year old and has talipes (clubfoot) in one foot, which has been treated, but no other health problems we are aware of so far.
I know how hard it is to go through this at a 20 week scan, and I didn't enjoy my pregnancy from this point on, my only advice is try not to overthink things until you have had all the scans/tests (easier said than done I know) xx

[lululatetotheparty]

I echo speaking with ARC, they are amazing. Also, if you want a second opinion the Fetal Medicine Centre is amazing.

fetalmedicine.com

Will PM you too.

[Cannyhandleit]

Good luck with your scan today @jlgsy94 I hope you get some good news!

[Wallabyone]

I'm so sorry and I hope your appointment today brings positive news. I came here to say that Dr Nicolaides team in London at the Fetal Medicine Centre are excellent, but I can see that another poster has suggested the same already. Honestly, if you can make an appointment and have a consultation with him it will help either way. Will keep everything crossed for you xxxx

[jlgsy94]

We went along to an appointment with a fetal medicine specialist Monday. They performed a detailed ultrasound which took about an hour, after which we were taken to a consultation room where she went through the different abnormalities found in our little girl.

HC small at 165mm (3rd percentile for 20+5 weeks gestation - but has grown from 152mm on 3rd July)

Mild Ventriculomegaly both sides (between 9-11mm).

Cerebellum still measuring small at 19mm (from 17mm on 3rd July). Cerebellum is also banana shaped.

Baby has a lemon shaped head.

The bottom part of the spine appears to not have fused as normal, as there is a small fluid-filled sac protruding with some nerve endings.

Bilateral talipes (clubfoot)

With all the above, they have diagnosed our baby with: Spina Bifida Myelomeningocele (low lumbosacral spina bifida), Mild Ventriculomegaly, Arnold Chiari Malformation.

She said that all the above are classical symptoms associated with spina bifida. She went on to say that as there are no abnormalities found within her other organs (ie. stomach, heart, coronal system, kidneys, bladder etc), that this is an isolated case of spina bifida, and not associated with a chromosomal anomaly, and so an amniocentesis isn't really needed.

She did say that we have the option of termination, but we both said that's not an option to us.

She then said that whilst spina bifida isn't life threatening, it comes with a whole range of challenges, and baby will need an operation to repair the sac within 24-48 hours following her birth. Paediatricians and paediatric neurosurgeon will also assess her at birth, and again before and after operation to determine what nerve damage she has. I am meeting with the paediatric neurosurgeon this week or next to discuss the procedure she will be requiring.

[Cannyhandleit]

@jlgsy94 I bet you are feeling pretty overwhelmed with all that info, at least now you are fully informed and you can prepare for what's ahead!
There will be Facebook groups you can access I'm sure for support and maybe even able to connect with other families that have faced similar situations in you area! My son was born with Down's syndrome and I had a very stressful pregnancy due to all the extra worry but I definitely found finding fb support groups and finding mummy bloggers who write about raising kids with ds extremely helpful, it took the fear out of the situation for me!
I'm sure your journey will have its ups and downs but you and your DP will find strength you never knew you had!

[jlgsy94]

I have already joined a Spina Bifida group that's been really awesome so far. The specialist also managed to track down results from my quad test (Downs only) that was taken a month ago, and risk is 1:10000, so was really happy with that. I'm not going to have an amnio done to test for anything else such as Patau or Edward syndrome as they were pretty clear that there would have been far more structural abnormalities than what they say with our little girl.

It'll take some time to process, but I am relieved that we will get to meet our baby girl at the end of all this.

[gubbsywubbsy]

All these signs are usually due to a chromosomal abnormality.. I have a son with one and we had a cvs and it wasn't picked up .. just be aware that not all genetic problems can be seen or even have a name . I wish you luck .

[Jemima232]

@jlgsy94


Thank you for updating - I wondered what had happened at the more detailed scan and I'm glad you're more prepared for the future with your daughter.

I hope you get plenty of support from other parents - I'm sure you will.

Wishing you well and sending love.

[MrsDimmond]

Gosh what a difficult time you've had.

I'm glad you are now in a position to understand what is going on, and have already found a support group.

Sending you much love as you continue along your path.

Your love for your little girl shines through your posts!

[KitKat1985]

I'm sorry you are going through this OP. But it sounds like the hospital are going to try and do everything for her that they can, and she's very lucky to have such loving parents. x

[flapjackfairy]

I have been to a hospital appointment with my little one today and I got talking to a mum whose little girl was charging around and talking 19 to the dozen. I was amazed when she said she had spina bifida. She has got issues but is doing amazing.
Of course I know each case is different as I have a foster child with hydrocephalous ( under the same umbrella of disorders ) and he has lots of physical and learning needs . But even with that he is a total blessing so dont despair.
I really hope things go well for you and your little girl.

[jlgsy94]

@gubbsywubbsy

I specifically asked the specialist about the risk of it being associated with Patau and Edwards Syndrome, and she said it's highly unlikely as there are no abnormalities within her heart, stomach, kidneys, bladder, coronal/renal system. There's no other soft markers such as cleft lip/palate, low sitting ears, widely spaced eyes, "strawberry shaped" head .

radiopaedia.org/articles/banana-sign-cerebellum

radiopaedia.org/articles/lemon-sign-1

She said that everything they found are classical symptoms of Spina Bifida, and it is that that has caused her small head circumference also.

I don't believe she would have told us it's highly unlikely to be a chromosomal abnormality unless she was certain.

[gubbsywubbsy]

Fair enough .. we were told our baby was perfectly normal and he isn't, that's all I'm saying ..a lot of genetic issues cannot even be seen under normal nhs testing.

[Antecedent]

Have you enquired about that intrauterine surgery?

[MumUndone]

All the best OP.

[jlgsy94]

I am going back to Southampton Thursday next week to see the paediatric neurosurgeon. As for an amniocentesis, I have spoken to the specialist midwife as I have changed my mind about this, and I will be having this done before I see the neurosurgeon. I asked her again what were the chances of my baby's condition being associated with something like Edwards Syndrome, and she said they would have seen a lot more abnormalities such as within the heart and renal system and brain. I did question what they found within my baby's brain (small hc, banana shaped cerebellum and lemon head and borderline enlarged ventricles) as well as the Spina Bifida. She said that everything they found were all classical symptoms of the Spina Bifida, and it is the Spina Bifida that has caused it. But she also said that as I know myself, I won't know and they won't be able to tell me with 100% certainty that it isn't due to any chromosome abnormalities unless I have an amnio done. As I can't stop consulting "Dr. Google" and worrying about the worst, I decided it would be best to have it done. I'd get the results back for t21, 13 and 18 back within 2-3 working days. I have a good chance of getting normal results, and at least then I can put that specific paranoia and anxiety behind me for good, as I would know for sure it doesn't apply to my baby.

I know that there's a 1% risk of miscarriage afterwards, but I am going to take it easy for at least a good few days, and it being around the weekend makes that easier. I think I need to have it done for my own sanity's sake. However no matter what the results, I would never consider terminating. I am just simply hoping for the best.

Also, the fetal surgery were discussed when I went there Monday, but I feel it carries too many risks for my baby and myself. 1. I've had 3 previous c-sections, so there could be an increased chance if the wound thinning/rupturing the further along I get. 2. I am just below the BMI threshold that UCLH have (I'm 5"3 and weigh 103.5kg = BMI 39.5, threshold is 40). I have also had my membranes ruptured prematurely with my eldest DD (completely unbeknown to me for 2 weeks), resulting in her being born 5 weeks early and being poorly. I definitely do understand the potential benefits of having it done, but with my personal circumstances I feel it may just be too risky.

[FreezerBird]

Hi OP,
My 20 week scan in my first pregnancy went almost exactly the same as yours has. My son is now 14, and has Spina Bifida. He has problems with continence but is mobile (runs 5k parkrun every week) and no difficulties associated with hydrocephalus/chiari malformation. (Also no talipes although they suspected it from scans).

Obviously mine is a story at one end of the spectrum of possible outcomes and we've been very lucky, but I still have the letter from the foetal medicine clinic telling us to expect him to be 'severely brain damaged and a wheelchair user'.

Also if you're adamant that you won't terminate, but want all the info you can get to prepare, you can ask about having amnio much later. That's what I did with my second pregnancy, when we knew there were a whole host of soft markers for Edwards/patau's but weren't going to termimate. I had amnio at - I think - 33 weeks when the risk is smaller.

[jlgsy94]

@FreezerBird

Hi,

Wow, that must feel so great for him to be able to do things like that. And yes you're right, outcomes are different for everyone, but I am trying to focus on the positive, which is her sac is sitting in the low lumbosacral region, and thankfully not mid-spine or even worse right under her skull, as I have been told that's much worse.

As for postponing the amnio, I don't think I'd feel able to wait another 11-12ish weeks. I really do think I'd drive myself nuts expecting whatever "Dr. Google" says applies to my baby.

It's a pain having to travel back and forth between Guernsey and the UK, but I'm happy to do it. It's set to be another long day on Thursday, flying to Southampton at 07:15, and first going back at 17:00. I don't fancy sitting around in the hospital for the rest of the time after the amnio/neuro appointment, but rather than walk anywhere I'll catch the bus if I decide to go somewhere. I do have a taxi taking me to the airport in the afternoon though, so at least that's sorted.

You say you had quite a few soft markers for Edwards/Patau's, what were those if you don't mind me asking? Both the fetal medicine specialist and specialist midwife have both told me it's an isolated case of Spina Bifida, and highly unlikely to be due to chromosome abnormalities. Then again, "highly unlikely" still doesn't mean 100% certainty.

In these situations the internet can seem like a godsend and devil incarnate at the same time - good for finding support groups on social media, horrible for reading about absolutely worst case scenarios, immediately thinking it must apply to one self also.

[FreezerBird]

Sorry OP, I probably wasn't clear about he soft markers/amnio thing.

DS (14) had spina bifida. His 20 week scan and the subsequent more detailed scans were very much as you describe your experience.

DD (11) has a rare chromosome abnormality and on the 20 week scan they found cleft lip & palate, a heart defect, two vessel cord, and various other excitements. Like you we wouldn't consider termination but opted for late amnio so we could be prepared for the early weeks and management. It's that experience that made me think you might want to delay amnio!