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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
CondeNasty · 19/11/2019 16:34

Congratulations! She is just gorgeous! Hope the appointment tomorrow goes well and you get to take her home soon.

billandbenflowerpotmen1 · 19/11/2019 19:05

What a beautifully stunning little girl. Huge congratulations.
I've been there OP but many years ago and different abnormalities. My DD,whose life once hung by the balance and had lots of surgery, is now the proud mother of my gorgeous 6 year old GS. Her life is full and whole and happy. May you have a similar life for dear Harper

VictoriaBun · 19/11/2019 19:35

What a bonny girl she is Flowers

byefeliciabye · 19/11/2019 22:35

Definitely looks as though it's gone down a bit in the last photo. Fingers crossed! She is such a beautyThanks

HoppingPavlova · 24/11/2019 09:51

She’s absolutely beautiful and an amazing g girl, with amazing parents. Wishing you all the best.

jlgsy94 · 21/01/2020 21:18

Just a little update:

Harper is now 2.5 months old and she's doing really well. She had surgery on 11th Dec for her VP shunt for the Hydrocephalus and touch wood it has worked well so far. Her 6-month post op checkup is in June.

She has also started treatment for her clubfoot - She's just had her 3rd set of casts put on today (it'll be a minimum of 6 casts, changed once weekly).

She also had a hip review Thursday last week (she was born with congenital hip dysplasia caused by the spina bifida). One hip looks like it may move into place on its own, whilst the other hip is still pretty much free flowing. The consultant wants to review her again in 2 months and, if nothing much has changed they may consider doing an operation, as she said putting her in a Pavlik harness could possibly cause more damage.

Harper also had a non invasive bladder assessment a few weeks ago, and there continues to be no need to catheterise her as she's still emptying her bladder completely on her own. She's due to have a urodynamics test done in April/May.

Harper is seen by quite a few different consultants; her neurosurgeon, her urology consultant, two different orthopaedic consultants (one specialises in clubfoot, the other in hip problems), her paediatrician, her community nurse, her health visitor, her physiotherapist. At the moment we go to Southampton once a week for her clubfoot treatment, but she's doing brilliantly and is absolutely worth all the effort.

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
OP posts:
katee90 · 21/01/2020 21:29

You're really inspiring OP. Your daughter is beautiful and clearly very loved

birdling · 06/02/2020 17:52

I've just read the whole thread.
Your daughter is gorgeous and you are totally awesome!
Star

jlgsy94 · 12/04/2020 22:27

Hi Everyone!

Harper is now 5 months old and doing very well.

There continues to have been no issues with her VP Shunt since its insertion in December, very grateful for that! Her head continues to follow just under the 98th centile.

She's also finished the casting part of treatment for her clubfoot. She's also had her tenotomy at the end of Feb. She's now had her boots and bars for 2 weeks and doing really well with that. She has to wear them 23hrs per day for the first 3 months. Just look at the progress she's achieved so far! (Pic attached).

She's continuing to meet developmental milestones so far and has also cut her first tooth!

She was meant to have urodynamics test done at UHS in May but that has been postponed due to the current situation. She continues to wee and poo on her own and will continue to take trimethoprim until these tests have been done. She was also meant to have her 6 month post op MRI there at the end of April, but this has now been arranged to be done locally.

Anyway, that's our little update. She's a lovely little tinker!

OP posts:
Windyatthebeach · 12/04/2020 22:34

Hi op! My ds had bilateral talipes found at 20 weeks scan..
After boots and bar for 4 years you would never know!! He is 11 now and an amazing football player and cyclist!!
You are all doing amazingly op...

PanicAtTheDiscLo · 12/04/2020 22:41

💓💓love to you and harper

jlgsy94 · 15/04/2021 12:47

Hi Everyone,

Didn't realise my last update was this time last year!!

Harper continues to do well. She's now 17 months old and have come on heaps and bounds. She has PT, OT and Speech therapy. She can crawl and pull to stand and started to cruise along furniture.

She's going to UHS for Open Hip Reduction, Pelvic Osteotomy and head/spine MRI. She's going to be in a hip spica for 3 months post-op so will be quite immobile. I expect to have a very frustrated little girl.

Included some pictures of her just because she's cute!

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
OP posts:
jlgsy94 · 03/02/2022 21:39

Well hello again everyone!👋

Harper turned 2 in November and is doing great. Recently discharged from OT as no current need for their input but have left the door open so to speak. Still seeing PT and SALT but she’s making awesome progress.

Harper had her Open Hip Reduction and Pelvic Osteotomy back in May of 2021 and man, the following 3 months of hip spica was no joke; was a tough ride for sure! Subsequent hip scans were fine up until October time where unfortunately it was looking like the hip was trying to squeeze itself out of socket again. This can unfortunately be common in people with SB due the muscles around the joint. We’re having another x-ray and review with hip consultant in a few weeks’ time, and it may be she will need further surgery, although that won’t be until a few more years as they would need to wait for the bones in and around the joint to solidify.

She also had a brain/spine MRI done in May as well. Brain looking all good, a normally formed but thinned corpus callosum and some grey matter heterotopia near the ventricles, but her neurosurgeon is not concerned by this. Spine is also fine apart from obviously where the defect is and that she has a low lying tethered cord, which may/may not cause issues for her later on, but if it does then they can do a tethered cord release. But, if no issues then they won’t touch as no need and, needless to say, anything involving the spine is delicate!

Harper have also been wearing glasses for just over a year now, and currently waiting for her shiny new ones to arrive. Tomato glasses are so cute 🍅.

She also had genetic Micro-array CGH bloods done, but these came back completely normal.

Harper is also due to start nursery two mornings a week after half term, so that’s exciting and frightening at the same time!

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
OP posts:
Embracelife · 03/02/2022 21:50

Beautiful girl
Wishing you all the best

jlgsy94 · 20/11/2022 11:14

Hi Everyone 👋

Harper recently celebrated her 3rd birthday, time goes by so quickly!

She will be having a second hip operation mid-Jan as unfortunately the first one didn't have the desired outcome (right hip has slowly migrated further out of socket). We were told that due to her Spina Bifida that a recurrence of hip dysplastic issues is more likely. So, in Jan she will be having a Right Hip Varus Derotation Femoral Osteotomy and a rotational Salter Osteotomy, be in a Spica cast for 6 weeks (minimum) and have pelvic pins removed after 6 weeks.

Earlier in the year she had her annual MRI which showed no change from the previous one except for ventricular volume being reduced slightly, which is an indication that her VP shunt continues to work and perhaps even better as she's always on the go now, meaning the shunt drains more effectively.

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
OP posts:
FadedRed · 20/11/2022 11:23

Happy birthday Harper! Lovely girl! 🎉🎂🎁

LisaJool · 20/11/2022 12:52

Gorgeous girl, thank you for the updates OP 💐

peanutbutterjelly500 · 20/11/2022 22:19

Just rtft. What a lovely read, she's made amazing progress and is such a cutie.
You've had a worrying journey but sounds like you handled it in your stride.

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