Small chin/ possible micrognathia

[ksusha20]

Hi, was curious if anyone know how common micrognathia/ what percentage of babies are affected.
I had my Nuchal scan on Monday (13+3 weeks).
Sonographer didn’t say anything wrong during the scan and marked on the report as normal. However at the end she said she referred us to FMU (London Royal Hospital) to check the baby’s chin. She said she was not sure but it looks to her short. And she couldn’t do further investigation as baby was not cooperating. My additional scan this Friday but I’m going mental. We haven’t received the blood test result yet but we did harmony test at 12 weeks privately. And it came back low probably.
Has anyone had similar experiences with Nuchal scan or know how common this abnormality?
Thank you

[Leggy123]

Just wondering what happened with your baby?
I have had a scan and Sonographer said chin was small so going through hell worrying what could be wrong

[ksusha20]

Hi Leggy,
Congrats on your pregnancy. I’m really sorry to hear that you are going trough stressful time. I know how it feels, have been there. I will tell you my story which unfortunately didn’t have a happy ending. However my case is more exception than the rule.
But first my advice is for you (and I know this is easier said than done) to stay calm and positive. Enjoy each single moment of your pregnancy, don’t let anything scare you.
Small chin is a hard marker for genetic disorder. 1/3 cases it’s related to some syndrome. But the good news is that 2/3 cases it’s not and just something that can correct in utero or when the baby is born. Small chin might come together with cleft palate, which can be diagnosed only when the baby is born. They can’t determine by the scan even though they might tell you that do. But again cleft palate treatable.
There are three things that I would advice to push docs to do if you are the person who prefers known to unknown.

1. Genetic testing to exclude chromosome abnormalities
   
2. Specific Genome testing to exclude dna mistakes. Consultation with genetic specialist.
   
3. MRI to assess how severe the problem is and if there are any other physical anomalies.
   

But again the issue might correct itself till your next scan. And in many cases it does. Also the scan is not 100 % accurate, the make things look a bit worse than in reality.
We did all of that and all came back clear, apart from small jaw/micrognathia.
Unfortunately our baby daughter died at 28+5 gestation. Postmortem identified that smell jaw was actually mild , she had other facial anomalies but very mild. So none of that could cause her sudden death. We are waiting follow up consultation with genetic specialist.
Our baby girl must have had some other issues. But half stillbirth can’t be explained.
Again 70% that small jaw is an isolated case and will correct itself. So focus on this.
Did sonographer suggested any further investigation?
Let me know if you need to know more.
But please stay relaxed , that’s the best you can do for your baby and yourself :)

[Leggy123]

We have had cvs testing done first part came back clear so waiting on next lot of results.
We are having the array test done and also dna testing.
The fetal medicine consultant said baby was too small to say definitely whether it is Micrognathia but we have to go back on23rd for follow up scan xx

[CloudPop]

@ksusha20 so sorry to hear about your loss.

[ksusha20]

If fetal medicine consultant could not confirm its micrognathia then try not to worry. For us they confirmed on the scan at 14 weeks. But the jaw actually appeared not that small in reality.
Also remember that scan is making things looks worse than they are. Plus on your next scan all can look normal.
Really wish that all clears up for you soon. Stay calm. In most case it’s nothing than something. We were just unlucky to be this little percentage.

[ksusha20]

Thank you

[Letthemysterybe]

Bless you for taking the time to give such detailed advice when your own loss is still so recent.

[Yesyesitsme]

I'm so sorry 22:45ksusha20

[Leggy123]

Thank you so much for your messages I will
Be 14 weeks at next scan so hoping they can give me a definate answer.
And hoping we will know more with all the tests that have been done

I’m so sorry to hear about your loss life is so cruel sometimes and what we have to go through to get a baby is sometimes a long hard road.
Xxx

[ksusha20]

thank you.
for us it was a hard journey as well (first pregnancy after 4th IVF attempt) and I'm 43 now.

[Lollipop2020]

Hi Leggy123
Just wondering how you are getting on? I’m currently going through the same thing as you. My 12 weeks scan first identified micrognathia and had a CVS. First part was clear but second array is inconclusive so we have had to have some bloods done for comparison to the baby which we are waiting for. Had 16 week scan the other day and no improvement. I can’t help but be negative about this whole thing and starting to consider a termination as we really don’t want a disabled baby with a bad start to life.

[Alima82]

Hi please help me, I can’t eat I can’t sleep, I’m dying from the inside. I’m 15weeks pregnant been told my baby has severe micrognathia. I have had cvs. part1 of test has come back clearly. Every professional has toLet me it’s not good news. I’m very hopeful but not met any1 who’s been positive. Any advice to test my soul.

[ksusha20]

Hi Alima82,
I wish I had a happy story to tell. As you can see from my previous posts we were not the lucky ones.
But what I know for sure that there is always a chance and positive stories.
Yes, micrognathia is in many cases not a good omen. However if it comes in isolation (no syndrome related) and no other abnormalities found then there is a chance this can be properly managed and treated once a baby is born.
I know it’s hard but try to practice relaxation because stressing doesn’t help neither you nor your baby.
Get as much details as possible from the clinic. Being well informed is better than uncertainty.
Stay positive. Even though it will not alter the outcome but it will help you to go through the stressful time.

[Alima82]

Hi ksusha20,
Thank you for responding, I’m still waiting on my second results of cvs, everyday is scary as all am doing is waiting for more bad news as I’ve not read upon any good news from others experience. All I know is I am not coping well. All on my own which I prefer I cry and wimpier asking god to have mercy. I have been told by specialist even if cvs comes back clear it does not change the fact my baby has severe micrognathia. I just can’t comprehend. Clinging to my own little hope😢

[ksusha20]

Alima82,
I totally feel what you are going through , have been there know how it is.
Agree that even if chromosome abnormalities test comes back clear, it doesn’t change that there is micrognathia. But it will rule out one of the possible problem.
Have they suggested to do specific genome testing as well if no chromosome abnormalities?
Do you know if jaw bones are not present or just short/small ? I don’t really know about your baby specific diagnosis but i was told by my doc that sometimes jaw can catch up in utero in second trimester. Not sure if it applies to sever case as well.
Have you heard about ARC (arc-up.org)? They have a helpline to support prospective parents through antenatal tests/difficult times.
Please take a good care of yourself

[MisssC3025]

Hi just jumping on to say I'm so sorry you had to go through that OP! 💔
DP and I have been told our little boy has a lethal kind of skeletal dysplasia, so we're both in turmoil. Cannot for the life of us decide what to do. He's still kicking and jumping around. Breaks our hearts.

I'm so sorry for you 💔 you're so brave.

For everyone else on here too worried about their results I feel your pain. 💖💙💖💙🙏

[Leggy123]

So. Sorry to hear everyone that has had to go through the same thing.
It’s so so sad and horrible and for us we are still waiting for results from post mortem.
Xx

[Alima82]

Went to see midwife today and was told Cvs results all clear, which was meant to be a relief. But the micrognathia is still a major problem as baby might have severe learning difficulties or physical needs and might not survive until full term. How do I cope with that thought. Fingers crossed I’m going for another scan tomorrow hoping that baby is developing as according and things are improving with micrognathia. Please everyone say a little pray for my baby.

[MisssC3025]

@Alima82 I feel your pain. My baby has different skeletal problems.. but the thought of baby not surviving is a torture we never thought we'd ever face.
Praying for all parents and babies going through this 🙏🙏🙏

I just spent a while talking to my baby and telling him how much we love him. Spent ages just chatting to him. People have told me to try and stay calm so he doesn't feel my pain and worry. Talking to him for a little while has helped me feel calm today. 🙏💙🙏💖🙏

[ksusha20]

@Almita82, try to focus on positive news. The only thing we can do is to love our babies and do everything possible for them to be happy.
Praying for your little bean to grow and get stronger and healthier perfect baby

[ksusha20]

Sorry @Alima82

[Alima82]

Thank you fingers crossed all goes well tomorrow

[Hopesandprayers]

Hi, please can you tell me the outcome as I'm in a simar situation now xx

[Misty12345]

Hey! Slightly different situation but my pregnancy with my son was plain sailing and no anomalies were detected. At birth he was diagnosed with micrognathia and several heart conditions. He also has low set small ears which is another marker for certain syndromes. After birth he could not breast feed or bottle feed due to his receeded chin so we ended up using a special needs feeder until he got weaned. His heart conditions wre thankully mild and 2 of them have corrected themselves and the other one we just have yearly check ups . We were offered genetic testing but declined it. He is now almost 4, is absolutely fine and there is nothing wrong with him at all, it was just bad luck that he had all the markers for genetic syndromes but obviously doesnt have them. His chin corrected its self over time and i have since had another baby that also has no complications

[Lollipop2020]

Sadly the outcome for our pregnancy in 2020 was unsuccessful. At 12 week scan micrognathia was identified. With genetic counselling a chromosomal deletion was found which was linked to a very high risk of developmental delays plus many other medical issues. After a very tough time of thinking and evaluating things we decided to terminate the pregnancy at 18 weeks. Some may have done differently to us but for us it was important for us (and the extended family) to not be in a situation with a critically ill baby especially as we have no family network nearby. I still fell it was the right decision for us.
Now I have a healthy 15 month old baby boy and baby number 2 on the way with no problems so far in pregnancy. I hope your outcome is a good one.