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

118 replies

jlgsy94 · 04/07/2019 07:26

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)

OP posts:
Thread gallery
14
timeisnotaline · 09/11/2019 13:18

Congratulations op, she’s beautiful!

BananaBooBoo · 09/11/2019 13:59

So happy for you OP your DH and for the gorgeous Harper x

VignetteStonemoss · 09/11/2019 14:24

Ah congratulations! She's beautiful.

HeatedDryer · 09/11/2019 15:25

I've just read your whole thread and I think you are amazing. Huge congratulations on the birth of your beautiful daughterThanksThanksThanks

Windygate · 09/11/2019 16:52

Congratulations and what a lovely name you've given her. Harper Grace, just perfect 😍

QueenMabby · 09/11/2019 17:28

I’ve just read your whole thread and wanted to say congratulations on Harper’s safe arrival, she’s beautiful.
My dd (aged 10) has a Chiari Malformation too.

jay55 · 09/11/2019 17:30

She's gorgeous, well done.

Clarke45 · 09/11/2019 17:34

Congratulations. She is absolutely gorgeous and such a beautiful name.

flapjackfairy · 09/11/2019 17:42

Oh I am delighted for you ! What a little beauty. Many congratulations to you and your dh x

Lou0390 · 09/11/2019 18:11

Congratulations she is so beautiful Smile

stucknoue · 09/11/2019 18:49

Congratulations. So pleased for you.

I love your analogy of drs being like weather forecasters! Brings back memories of them telling me my dd has "markers" and a small head. She's 18 so heathy she's in the armed forces.

Dinosaursdontgrowontrees · 10/11/2019 20:37

Congratulations op. Harper is absolutely perfect and so beautiful.

LostInTesco · 10/11/2019 20:49

She's beautiful! Congratulations

I haven't noticed any one commenting on club foot yet - I had left foot talipes, and had the operation to lengthen my tendon when I was wee.

I did a lot of dance lessons and I remember doing exercises like walking across the room on tiptoes and on my heels. Tap, modern and ballet (yes, I was an eighties child!) for three hours a week. Now, the only sign is that I know my left leg is a little thinner and shorter than my right but no one has ever noticed. I always forget to mention my scar on the back of my leg on the identifying features bit of forms!

Just in case that helps 😊

Ohyesiam · 10/11/2019 21:32

Congratulations, your little girl or truly beautiful, and has truly wonderful parents. FlowersBearStar

AiryFairyMum · 11/11/2019 23:42

Congratulations! She's fabulous. Well done to you all.

jlgsy94 · 17/11/2019 10:59

Little Update

Harper has done amazingly well. She got discharged from NICU Wednesday 13th November, so only spent 7 days there. She had surgery to close her lesion morning after she was born and recovered really well.

She had an enuriesis assessment done and to our delight she doesn't need a catheter for the time being as she's deemed to have a safe bladder - she wees and poos just fine.

She's also had a few cranial ultrasounds and although her brain ventricles are enlarged, they aren't moreso than what they were at my last pregnancy ultrasound. They're classing it as mild hydrocephalus, however the neurosurgeon said it is static, and that chances that she will need a shunt is now extremely low, though she will still have regular follow up appointments with them to keep a check on things.

In terms of physiotherapy, she will be having regular appointments with our local team back home. For now, we have been given a few exercises to start with to help her legs extend more downward, as they were almost drawn up under her tummy when she was born - partially due to being breech but also due to were her lesion was on her spine. We've made good progress so far, and she can now extend her legs downwards at a 90 degree angle.

In terms of orthopedics, she had a hip ultrasound on Thursday. The consultant said that her hip joint sockets haven't formed properly - in an ordinary person the socket would be of a rounded appearance, whereas with Harper the sockets are more flat and shallow. This is again due to where her lesion is, as it has affected the growth of some of the nerves going down to her legs. The consultant said that for now they're not going to do an operation as she's still so little, and that it is hoped that with exercises and manipulation the hips will go back into joint. So it's some form of hip dysplasia . As for her clubfoot, they said they won't be doing anything about them yet, though I might bring it up with them again as I'm not sure whether her feet will become more "stuck" in their current position if left for a considerable period of time.

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
OP posts:
flapjackfairy · 17/11/2019 16:51

Oh what a lovely update. It all sounds very positive.
I know the physical stuff is a concern but really the Neuro stuff is more important because that could impact on all aspects of development going forward. Hopefully orthopaedics will be able to sort the hips and legs though it may take a while.
She is a real beauty jigsy . I am so pleased for you . Enjoy every minute x

GertiMJN · 17/11/2019 20:30

Lovely update and photos jlgsy94

TheMustressMhor · 19/11/2019 14:59

I'm so happy to read all this, @jlgsy94.

Your daughter Harper looks wonderful and you clearly made the right decision.

I've been following from the start and your courage shines through.

I wish you all well for the future. Harper is lucky to have you and your DH as her parents.

DerbyshireGirly · 19/11/2019 15:15

Oh OP she's lovely. Your bravery has paid off a millionfold.

(Not saying that people who choose a different path are any less brave, but I hope the sentiment carries across).

jlgsy94 · 19/11/2019 16:00

Thank you everyone Smile

We had hoped to be given the all clear to go back home to Guernsey, but we have unfortunately had a setback yesterday at Harper's neuro review.

Harper has developed a lump over the incision site, which they said was a build up of spinal fluid, which they'd expect to settle down and reabsorb itself, so that wasn't the problem in itself. However, the top of her wound had started to ooze a bit, and for that reason they want to see her again tomorrow at 9am for a further review. If they deem the wound to be of the same appearance they may do surgery to correct it. It's annoying, frustrating and depressing all at the same time as we all really want to be back home, but at the same time we would much rather they be absolutely sure everything is fine, so as to prevent us going home and then a major problem occurs.

I do think the lump has gone down though- 1st and 2nd pics are from yesterday, 3rd and 4th pics are from today, so hope that is a good sign.

I should know more tomorrow once we've been to appointment. We'll get to go home in the end, we might just have to get over an obstacle first Smile

OP posts:
jlgsy94 · 19/11/2019 16:01

4th pic

OP posts:
jlgsy94 · 19/11/2019 16:02

And here's a pic of Harper just for a dose of cuteness Grin

OP posts:
Grandmi · 19/11/2019 16:16

I have just read your thread...you are an amazing lady and Harper is beautiful. Congratulations.Xxx

jokerreturns · 19/11/2019 16:32

What a beautiful little girl you have - wishing you all the best and hope you get to all go home soon