Anyone had experience with Edwards Syndrome?

[dncnllama]

I am currently 22 weeks pregnant and was confirmed at ultrasound 2 weeks ago my baby girl has cleft lip and palate. I was told by doctor that there is 2% chance of chromosone disorder related to cleft lip and palate.
I decided not to do amnio as don't want to take risk of miscarriage of healthy baby.
But just got news from my mum that my cousin (mothers sisters daughter) recently in past 2 years had a stillborn baby at 4 months with Edwards Syndrome and it *could* be hereditary.
My ultrasound was normal except for the cleft lip/palate but I am naturally worried about possibility of Edwards Syndrome.
I never had the Downs testing at 11-13 weeks as my doctor never offered or mentioned it to me and I had forgotten about it as before this never had any fear my baby would have any problems.
I am 28 and have a 2 and half yr old perfect healthy boy.

I've been told my cousin has been tested and has an extra 18th chromosone so she has been advised to not have any more babies.
But her sister has had 2 babies(boy and girl) and brother has had a girl and they are all healthy.

Has anyone had an Edwards baby, but the ultrasounds were normal?
Or have a relative like me with Edwards?

[HouseOfFun]

Sorry to hear you are having to deal with this worry. Usually babies with Edwards Syndrome (trisomy 18) will have other soft markers on ultrasound (other abnormalities). Having a cleft lip and palate in isolation is a low probability of Trisomy 18.

[brooke88(mum2b09)]

Firstly hugs to you! What a worrying time. My dad and his then wife had a baby boy before me with Edwards syndrome. I'm not sure of the ultrasounds results as it is a very sore subject with him.
He couldn't breathe on his own and was severely disabled, clubbed feet, cleft lip and palate.
He passed away at a few months old.
I think there would be very clear abnormalities if it was the case with your baby.

Best of luck, I'm sure everything will be fine

[dncnllama]

After speaking to my doctor Im feeling a lot better today.
She doesn't think my cousin having a baby with Edwards Syndrome increases my risk, she still gives me 1-2% chance of my baby having a chromosonal disorder. Im also given hope that both my cousins sister has had 2 babies, and her brother one baby who is fine.
But my cousin was tested and she has an extra 18th chromosone which makes me wonder about all this amnio stuff. From what I understand if they did the amnio, they test how many chromosones the baby has and diagnose based on that. So if my aunt was tested when pregnant with my cousin, they would say she had the extra 18th chromosone and be given diagnosis of Edwards Syndrome I think? Which the doctors basically say is a death sentence... but my cousin never had any physical problems as far as Im aware, but she's always been a handful, like a really naughy child, shes in her early twenties now and a heavy partier, known to do drugs and a pathological liar I've been told, but lots of people with normal genes can be like that. So that just makes me all confused about that... Does my cousins extra 18th chromosone, by definition mean she has Edwards Syndrome? A lot to think about there...

[BaronessM]

I know this is a very old thread, but....Most likely if your cousin has no severe abnormailities, but has tested for extra 18th chromasome, she has a variant known as Mosaic Edwards Syndrome, where only a portion of the body's cells have the extra chromasome.

I would say her behavioral stuff is just that ~ behaviour that anyone could get up to at the early 20's stage of their life. But who know's? Could be related. I hope your bub was fine, and has had treatment for the cleft-lip and palate.