12 week scan Micrognathia

[Leggy123]

Hi
I had my 12 week scan on the 4/12 and Sonographers said she had real concerns about our baby as the chin was showing smaller than it should at this gestation.
I had to go on Monday to fetal medicine where my bloods came back and I was high risk for Down syndrome 1:116
I then had to have a in-depth scan where everything was checked on. Baby as much as it could be at 13 weeks.
Consultant said baby is too small to say definitely whether it has a small chin but she is suspicious.
In the end I had a cvs test so to check if baby has chromosome problem ect.
First results came back yesterday and baby doesn’t have downs Syndrome, Edwards syndrome or Patau syndrome so that is reassuring.
But am still concerned what could be wrong with baby I’ve stupidly google Micrognathia and it doesn’t look good.
Is there anyone else who has gone through this?
Xx

The first thing to do is look closely at your family and baby’s dad’s family! As with all things there is a range of what is normal.
It was quite sensible to do a CVS because true micrognathia can be linked to chromosomal issues. Good news about the preliminary results & I assume you’ll get the second part in a week or so.
Assuming CVS is ok the suggestion will be to monitor growth during the pregnancy. Is there is genuinely an unusually small lower jaw I would suggest a hospital birth with a neonatal doctor on standby. Just occasionally some breathing help is needed at first
Very likely that this will not turn out to be a significant issue though.
Let us know how things go

Thank you so much for your reply
We have already had a baby together and she has petite features but her chin is quite obvious.
I have a obvious chin as does my sister and dad.
My first daughter( different father) has a small chin completely flush and doesn’t protrude or anything so I guess things can be different.
We will just have to Wait for results and see where we go from there
Xx

Hi please can you help and update me, I am in a turmoil, I’m in similar situation. I have no support as I’ve been told the micrognathia is severe and I should think about termination. I never want to do that. I’m constantly crying. The uncertainty is killing me. I’ve had cvs result1 clearly waiting for second results. What is your outcome? I’m very hopeful all on my own, plea see advise

I will PM you

Hi all,

I know this post is old, but I wondered how things went?
I had a scan today at 13w2d and they think the baby has a small chin. They are going to send us to a consultant to get clarity.

Any advice would be great.

Thanks

My baby was diagnosed with micrognathia at birth, nothing was picked up on our scan, looking back at photos of my partner he and my step daughter both had very receeded chins at birth as well, however in their instance and my sons instance they have grown out of it. My son is 3 now and absolutely fine. It caused feeding problems for the first year so we had to use a special needs squeezey bottle , once weaned off milk he has been fine eating and drinking. No genetic issues as far as I'm aware

@Leafblower14 thanks for your reply.

How did they diagnose it at birth? Was the smaller bottom jaw very noticeable? Was there any other health issues related to it?

Atm we are very worried because we don't know what the small chin seen on the scan means. We have a second opinion booked for Monday, it's going to be a long weekend.

Thanks

He had terrible feeding problems, would not breast feed or bottle feed, he was tube fed for almost 2 weeks before we managed to find a special needs bottle. I shall attach a photo, as you can see his bottom jaw was basically non existent. He has heart issues but that is totally unrelated. No genetic issues as far as im concerned. I have a small jaw and my husbands chin was receeded at birth so they just said it was bad luck he inherited all these traits together which made his chin look very receeded and lead to a diagnosis of micrognathia. Looking back we had a 4D scan and his chin looked very receeded on that but no one picked anything up. His heart issues were also not picked up on any scans (non life threatening)

Aww, he's gorgeous. Thanks for sharing.

And nothing was noticed at your 12 week or 20 week scan?

We don't have any similar features in myself or my partner. This is our first baby.

They said from some angles the chin looks small, but they need a second opinion.
I keep looking at the scans, but I'm not sure how bad it is. In some pictures the profile looks normal, but in others the bottom jaw does look small. Iv attached a 'good' and 'bad' picture.

Atm I'm very upset as I don't know what it means. We won't know more until Monday, which seems forever away 😢 x

Thankyou :) and nope , nothing abnormal picked up on any of the scans. Have you had your screening results? From what i can remember mine was 1:15000 and 1:100000 so i was not high risk for anomalies either. Im so sorry you're going through this, waiting is just torturous , im trying to find early scans of my son and these were the best i could find . The 4d one looking back, his chin was very receeded , however i was none the wiser as no one said anything. He had 2 holes in his heart which have since closed up and can be a marker for downs, but he was born perfectly healthy, minus his tiny chin, he grew out of it around 2 years old. I see what you mean about the scan photos, maybe they have just caught baby at a funny angle? Especially as the first one looks fine x

We will hopefully get the screening test results tomorrow when we see the specialist. I guess those results will start to tell a story.

Atm we are really upset and worried- I think it's the unknown that's eating us up. We keep going between best case and worst case which is really unsettling 😢

I can't wait for our appointment tomorrow afternoon, but I'm also dreading it.
Iv had lots of fertility problems previously and this baby felt like all my dreams come true. We were meant to see my family today for a Father's Day thing, where we planned to tell everyone our exciting news. Instead we cancelled and I'm just still in bed feeling sorry for myself.

I think once we know what we are dealing with, We'l feel much better. X

Do let me know how you get on, again I'm so sorry you're having to go through all this waiting and uncertainty. Its the not knowing which is horrible :( sometimes its just them being over cautious in case they do miss something sending you the best of luck for tomorrow x

@catlady1234 how did everything go today? Xx

Hi @Leafblower14,

We had the appointment tonight.

My chromosome tests all came back very low risk, which is good news.

They did lots of checks and everything seemed normal, but obviously the baby is still tiny.
She checked the heart and she could see 4 chambers, the brain, limbs etc all looked find too. She said often babies with chromosome problems have other health problems.

She also said our baby is dating/ sizing correctly. She said often babies with problems are often small.

She couldn't get a good view of the face profile because of the babies position.

She has asked us to go back in two weeks for another scan and if they suspect issues then we have the options of the invasive chromosome tests. She said atm she didn't see anything worrying enough to recommend the further tests due to the miscarriage risks.

All we can do is wait and hope 🤞🏼 x

Thats such good news! So glad everything went well for you :) keep me updated!

Hi @catlady1234 have you had any further news?

Hi @Leafblower14,

We had another scan this week. They said the same again- that they couldn't see anything to be concerned about, but it's still a bit early to see everything.
They have asked us to go back in 3 weeks (19 weeks) when hopefully they can see the face clearer. They want to check for a cleft lip.

I also had a private harmony test done which came back all low risk which is reassuring.

I think it's just a waiting game now. I'm hoping it's nothing, but prepared that it's something

@Leafblower14 I’m concerned my son (who is 9 weeks old) has micrognathia and it has been missed. Not even sure if that’s possible. Other than feeding did your son have any other problems caused by micrognathia? And with feeding was it that he could suck from a standard bottle?

@catlady1234 that's fab news, keep us all updated ! And mainly feeding issues, he was not gaining weight, we had to use the medela special needs federal as he could not breast feed and would not feed from a standard bottle either. He would suck and suck for ages and wouldn't manage to get anything out or would completely drown himself , we tried every bottle you can imagine and that was the only one that worked, @Mummycool88 what are your concerns with your son that he's been missed? X

@Leafblower14 thanks for your message. He has a very small chin/jaw and feeding hasn’t been easy since birth. He can take milk from a bottle, but after about 2oz he starts to struggle and I wonder if it’s because he tires and whether this is to do with mouth structure. Does this sound like it could be micrognathia or do baby’s find it impossible to feed from a standard bottle? X

Have you spoken to your health visitor? Not that mine was any use mind you. Yeah my son inherited a small jaw from me and my partners receeded chin so the combination was just unfortunate and made it impossible for feeding. They said it affected his suck which is why he got so knackered . It would take my son and hour just to get 3 oz down him which is not normal at all, he would then tire and barely feed. They kept telling me he needed 20oz a day and we were only managing 10oz on a good day. Because he was my first i have no idea what is normal for a baby as his feeding nightmare has been my only experience but from what i observed of my friends, all their babies would guzzle 5 oz with no difficulty at all. How long does he take to get the 2oz down him? I would definitely raise this with your health visitor. We also had other complications of a dairy allergy so could not take high calorie milk either, we ended up weaning early and topping up milk with dairy free yogurt, banana ect. The medela bottle was a godsend for us as it does not flow out unless you gently squeeze the top of it so we could create a flow for our son without him having to suck as hard. They suggested dummies to strengthen his jaw but he wouldn't take them. He used the medela bottle right up until he gave up milk as he got used to it. X

He was diagnosed at week old but the feeding issues were going until he gave the bottle at 11 months maybe sooner.

@Leafblower14 thanks for your reply. I’ve spoken to health visitor about feeding difficulties but not micrognathia. How did you little one get his diagnosis? My little one can take 2oz relatively quickly - about 15 mins but then doesn’t seem to be able to take much more with difficulty and looking uncomfortable. Milk often dribbles out the side of this mouth and he loses suction on the teat creating air bubbles thus causing wind.
Did you little one have any other difficulties than feeding? Now he is on solids is everything OK?
I will definitely discuss it with my health visitor after the weekend x

We were in hospital for 2 weeks after birth as he was losing weight and they had him on an energy tube. I think with him it was obvious at birth as you can see from my above picture but to us it was a bit of a shock as i was a first time parent and didn't even know these sorts of things were diagnosable, it never crossed our minds! They just used to check him daily and one of the days the SALT team came over and micrognathia was written on the sheet of paper they gave us along with feeding isuees. Yes my son would either have milk spilling out or would not get anything at all, there was no happy medium if that makes sense. He had a milk allergy as well which caused him great discomfort, he would turn his head and go rigid from being in pain with his tummy which is another reason he did not want to drink. He also had a heart murmur which may have been another reason why he tired easily. It was a vicious circle as he would be too tired to take his next feed so would be more exhausted from not taking on enough milk. He did not have tongue tie and did not have left lip or pallet, they said his tongue was a little far back also which is why he may have lost suction. He is now 3 .4 and is fine. He has a speech delay but that is unrelated, other than that a happy 3 year old! Has never been a massive eater but he's average for height and weight and is fine with eating x

@Leggy123 @catlady1234 how did things go with your babies? I'm in your position now, just got the diagnosis Friday 😢