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Antenatal tests

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)

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jlgsy94 · 12/07/2019 18:00

@FreezerBird

Ahh thanks for clarifying!

Oh man, you guys must have been worried re your youngest, even if termination was out of the question. Well anybody would be, that's what parents do!

I still think I would rather have the amnio done now. If it was bad news, I think I'd need that extra time to prepare myself and have realistic expectations of what was to come if there was anything and say it was something like Edwards.

I just want the rapid results back ASAP afterwards, so the wait over the weekend will be a killer. Seriously, I think when I get the call from the hospital I think my heart will be going a thousand miles.

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jlgsy94 · 18/07/2019 16:37

Well I had the amnio done today and honestly it wasn't half as bad as what I expected it to be. In fact the blood test they took from me afterwards hurt more.. So much for working myself into such a sweat lol. I'll get the QF -PCR results Monday or Tuesday next week for downs, pataus and Edwards, the rest will take about 2 weeks.

I couldn't help myself so yet again asked consultant (this time different one) how often is spina bifida associated with T18 and such, and she just said not at all often. Didn't give me a percentage. Normally I look forward to weekends, but I want this over and done with out of the way. The wait is already killing me.

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MrsDimmond · 18/07/2019 18:07

I hope the weekend goes as quickly possible jlgsy94 and results come through asap Flowers

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jlgsy94 · 19/07/2019 17:53

Fetal medicine midwife called to say they've already had the rapid results back - baby girl does NOT have Downs, Pataus or Edwards Syndrome and her sex chromosomes are fine too. Cried tears of relief after the call. Just have to wait for rest of results to come through in a week or two.

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MrsDimmond · 19/07/2019 18:10

Oh I'm so glad you have the first results so quickly!

Perhaps you will be able to enjoy your weekend after all. I will continue to think of you as you wait for the other results
Flowers

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jlgsy94 · 29/07/2019 09:38

Just a little update.

Just spoke to Princess Anne, they said they tried calling me on Friday (oopsies)... Full results came back fine, baby girl's chromosomes are all normal! So happy!

Seeing my local OB on Thursday for review, then seeing midwives for 24 week appt on Friday. Then have a growth scan at my local hospital on 16th Aug, then another growth scan at Princess Anne on 29th Aug (they'll book c-sec for 39 weeks at that time too). So just gotta go with the flow for now.

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MrsDimmond · 29/07/2019 14:15

Great news jlgsy94!

I hope you now feel able to relax a little and enjoy the 'flow' Flowers

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Spenner11 · 03/08/2019 13:32

I had my 20 week scan and I have been asked to have a rescan in two weeks they said everything look fine except her HC 163mm they said is on the small side her FL is 33mm has anyone had this and no what I should expect I am constantly worrying now

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jlgsy94 · 16/08/2019 18:22

Had a growth scan today (am 26+2 weeks) and all looks good. She's still measuring small for her head but it's growing and in proportion with AC and FL measurements. She's also continuing to follow her own growth line with no drop, and that's all they want to see. Sonographer also managed to establish that her SB sac is at the very bottom of her spine. Also her brain ventricles are 11mm, so still within the 9-11mm they gave us near enough 6 weeks ago.

She was sucking her hand during scan and we also got to see her bum cheeks as her legs were almost over her face ha ha.

Going to Southampton for another growth scan on 29th Aug and will know the date of my c-section then also.

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
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cardamoncoffee · 19/08/2019 07:16

OP two of my friends have children with the same type of SB that your little one has, they were both given very bad prognoses and advised to terminate, which neither obviously did. Both are wheelchair users as are paralysed from where the sac protruded down. They are 13 and 6 now and live very full lives. The eldest goes to a special school which is strong in sports and he is expected to go to the paralympics for javelin and swimming. The six year old is in mainstream and does the usual brownies/swimming/horseriding that other girls her age are doing.

I will add that the mother of the 12 year old says that he has more opportunities than her other (able bodied) children as he gets to do a lot of sport through school that they couldn't ordinarily afford.

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jlgsy94 · 28/08/2019 18:18

Going to Southampton tomorrow for the next growth scan. Have so many questions I want to ask about the birth, immediately after birth, the operation she will be having, etc etc etc, so will have to prepare a list. Here's hoping she's continued to follow her own growth line.

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Jemima232 · 29/08/2019 10:23

Good luck jlgsy94 and please let us know the result.

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jlgsy94 · 29/08/2019 18:41

Baby girl doing very well. HC is 248mm so still small but following her own growth line with no drops etc. AC is 233mm and FL is 52mm. In 2 weeks she's gone from 1lb 6oz to 2lb 4oz, which I was really pleased with! 3rd ventricle measuring 3.2mm and brain ventricles measuring 11.9mm, but consultant assured me it wasn't significant and is quite normal with SB. They were pleased with her progress.

I am due another growth scan there on 15th Oct (will be 34 weeks), and they will then give me a date for C-section (I expected them to tell me today, but oh well). I was also shown around in the NICU by one of the surgical nurses that works in the unit which was really nice.

I'm expecting to see my local consultant in the next few weeks for review, so will wait and see.

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Cannyhandleit · 29/08/2019 20:26

Glad everything went well today.

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cardamoncoffee · 29/08/2019 20:53

Glad things went well OP, have you been given contacts for any SB charities/support groups in your area?

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Jemima232 · 29/08/2019 23:48

Good to see your update OP.

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Sorbfsiabs · 10/10/2019 21:17

I hope you don't mind me asking if there are any updates? I've been reading your story x

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jlgsy94 · 11/10/2019 15:12

@Sorbfsiabs

Hi!

Had a growth scan at my local hospital today actually. (34+2)

HC 290.7mm
AC 275.1mm
FL 65.7mm
EFW 1953g (roughly 4lbs 4oz or just over??)

Growth below 10th centile and head below 5th centile, but she's continued to grow in proportion all over, she's just a small baby. She's lying long ways and breech (head under my left ribs) and movements can only be described as squirming around like a snake, not like popping movements, so although small I think she may be running out of space.

Her spina bifida continues to be of similar appearance as when first diagnosed at 20 weeks (low lumbosacral). At 20 weeks her brain ventricles initially measured 9-11mm, however as of today they're now 17mm. Although they've enlarged further, it's been slow, and something that FMU would expect to see in a baby with Myelomeningocele and the resulting Arnold Chiari Malformation.

Going to Southampton (Princess Anne) on 15th (Tuesday) for a growth scan with the fetal medicine specialist, and will be told a date for c section which will be around 39 weeks.

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jlgsy94 · 11/10/2019 15:13

Pic of measurements

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
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Sorbfsiabs · 11/10/2019 17:05

Thank you for the update :) you're such a strong lady, you'll be in my thoughts over the next few weeks x

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TheMustressMhor · 13/10/2019 21:40

Hi there @jlgsy I am glad to read your update.

You've been so positive about your baby and it's heartening to see that things are on track.

Not long to go now. Wishing you well. I've been reading your story from the beginning.

Flowers

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jlgsy94 · 16/10/2019 06:49

Another little update following my appointment at Princess Anne yesterday:

Baby is doing well and been growing well, in fact so well that I think the measurements the sonographer at my local hospital took on Friday must have been off - she went from being 4lbs 3oz on the Friday to 5lbs 9oz yesterday. I know you need to allow for errors but even so that's quite a difference.

Her brain ventricles have increased in size to 17mm and 3rd ventricle to 7mm. They said this is what sometimes happens in cases of Spina Bifida, and that the increased size in her 2rd ventricle tells them that there is a blockage of the flow of CSF fluid, but that they wouldn't deliver her any earlier unless some other concerns arise. The blockage makes sense as she has Arnold Chiari Malformation , so she may need a shunt after her spinal lesion has been closed.

They detected a low level of amniotic fluid and asked me if I had noticed any leaking which I said I hadn't, but then again with my eldest DD I had PROM for 2 weeks and I was none the wiser (of course I must be completely clueless!). They checked the placenta and umbilical and all is fine, so cause for the oligohydramnios is unclear. I was sent to their day assessment unit for a CTG which was absolutely fine and then had a speculum to see if there was any presence of amnio fluid- there wasnt which was obviously very good but Oh. MY. GOD... The speculum was like a car Jack- being cranked open more and more, and the midwife was holding a tiny torch down the business end to allow for a good look... all dignity was lost and buried deep at that point Grin

I am to have 2x weekly CTGs at my local hospital to monitor baby and will then be over to Southampton on 29th for another growth scan where they will determine if c section will still be done at 39 weeks or earlier - I am also to stay locally in Southampton from that point.

For the low amnio fluid I will be making a conscious effort to drink bucket loads, as my wee has been quite dark so I think I may not have been drinking enough.

I hope it won't end in further complications or make baby really sick. Googling oligohydramnios wasnt a good thing to do - the interwebs can be evil and devils work sometimes with inciting anxiety, Ugh!!

Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
Small head/enlarged ventricles at 20 week anomaly scan - PLEASE READ
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TheMustressMhor · 16/10/2019 13:46

Hi there OP - thanks for the update.

I wouldn't pay any attention to the estimated fetal weights - I've never known one that was accurate - so they are probably both wrong. What I mean is that I wouldn't assume the lower one was incorrect and the higher one was written in tablets of stone. (IYSWIM)

Definitely stay away from Google - although I know it's hard. You're quite right that doing so makes anxiety much worse.

I'm sorry that you found the speculum exam so painful - if you need another ask for the Entonox to help you through it.

You've only got about a month to go now, which I am sure will drag very slowly. How's your DH coping with all of this?

You and your baby are very much in my thoughts.

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jlgsy94 · 23/10/2019 19:30

Had my last catch up with my local Obstetrician today before going to Southampton Tuesday next week. He was thorough and scanned for ages. He said fluid level is low, but not really any lower than it was last week. Doppler was good too and placenta is functioning as it should. Baby is also growing appropriately. He said usually when someone has oligohydramnios they worry about two things; cord function and placental function. Both of those are fine with me and baby, and he said sometimes you can just end up having it with there being no real cause for it ie "one of those things".

Going for my 2nd ctg this week tomorrow and then last local antenatal appointment on friday.

My anxiety has gone through the roof since they found out about the low fluid last week - I've been through it once before with my eldest and I had no clue about it.

Also, local OB did ask if he could do a speculum exam and scan my cervix, which I agreed to (why wouldn't I, it's in best interest of me and baby).. Oh boy, the familiar "car jack" feeling was there LOL.. on the positive side there was no sign of liquor leaking and cervix is firmly closed.

Anxiety is at the point of where I'm constantly worrying about her movements and bring overly obsessed with them again. I'm contemplating phoning my local ward and asking to come up to have a listen in, even though I know baby has been active today.. Mind can be a cruel, cruel thing.

Anyway enough rambling, that's my update so far.

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jlgsy94 · 23/10/2019 19:31

Oh by the way, AFI is 5.6cm, and am 36 weeks exact today.

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