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CVS support. Chromosomal testing. No hope. Lock Rss

Hi
Newbie to this forum (actually any forum) but I'm hoping for some support for high risk NT testing results, CVS test and other chromosomal disorder markers.
A bit about me: 27yo (26 @ conception); no fam history of chromosomal disorders; no risk factors whatsoever.
Tuesday, NT US scan: 7mm nuchal fold at back of neck. Lots of tears and waiting for an appointment @ fetal medicine clinic.
Thursday, @ fetal medicine clinic: Results of combined NT: 1:5 risk of downs and 1:55 and 1:100(something) for Edwards and Patau syndrome (can't remember which)
Same day, @ fetal medicine clinic:
Further US scan showed same nuchal fold measurement, plus echogenic bowel (I only saw this on the blood test form afterwards, not sure how certain it is as they didn't mention it...) and OB said she's unsure but possible hole in the heart.
Same day, @ fetal medicine clinic:
CVS test: damn painful I don't care what you've read. Also very traumatic. Cried and slept all day afterwards.
Same day, @ fetal medicine clinic:
Blood testing to rule out infection likelihood causing fluid backup therefore high nuchal fold reading.
Now waiting on the results which come through Monday. And I just have no hope that our baby will be healthy. I really don't. Also terrified of a possible termination though I probably would if chromosomal disorders are confirmed.
Really looking for some support here and some stories, good or bad. I'm a facts person so I need both sides, not just comforting positivity. To help ground this situation in reality.

Thanks
Hi!

I am so sorry to hear about what you are going through, and I know trust me, I went through it all in Jan this year.
I was 28 when I conceived and 29 when I went through all this.
I got bloods back showing low hormones, my midwife asked if my dates could be wrong, which they weren't.
Had my scan and had a high NT fold - about 3.2mm,.
My bloods were -.
hcg 0.36 MOM
PAPP-A 0.10 MOM

with these two factors they made my risk -

Down's syndrome 1/15
Trisomy 18 1/6
Trisomy 15 1/8
Turners syndrome 1/280

I had the CVS test done, and yes it was horrible!

I got the results back 3 days later, and my baby was positive for Tri 18, me and my partner terminated. the hospital were very good, they answer all the questions that are buzzing through your head. when I went in to be prepped for the termination, the day before the surgery, I fainted, all of it was very shocking and overwhelming, I never thought this happened to healthy women in their 20's, the doctor knocked me out for the termination, which I am very grateful for as the last thing I remember is laying down to be set up, then waking in the recovery.

I hope your CVS comes back with better results than mine. we are now having another baby, and baby is healthy this time!! I am 19 weeks.

Just to clear up also, chorosomal abnormalities are not genetic, so having no family history does not matter, it all happens by chance, and can happen to anyone.

If you need someone to talk to, message me smile
So sorry to hear your story. "Difficult" is such an understatement, there are no words to describe the feelings in this situation.

Can I ask how many weeks you were when you terminated? You don't have to answer. It's just that I'm 14 weeks tomorrow and know it's a very real possibility. And I'm just so terrified it will be a reality and want to know what it's like (without sounding insensitive).
I was 12 weeks at the scan, 13 weeks when I got a diagnostic, then as they only do terminations on Fridays, and the following Friday was a public holiday I had to wait 2 weeks nearly, so I was 15 weeks.

it was hard having the baby inside me, knowing it was sick and that I was going to terminate, they did their best to put me in that week, but couldn't.
Keep your chin up - stressing won't change the results. Whatever the result remember you need to put your own health etc first. It is a difficult situation to be in but when it comes to it you will make the decision that is best for you.
I have a friend who was told her baby would be born with down syndrome, not a percentage chance, & she has a very healthy little boy (who does not have down syndrome) so sometimes the results are wrong.
Good luck
Bec + 1 1/2 wrote:
Keep your chin up - stressing won't change the results. Whatever the result remember you need to put your own health etc first. It is a difficult situation to be in but when it comes to it you will make the decision that is best for you.
I have a friend who was told her baby would be born with down syndrome, not a percentage chance, & she has a very healthy little boy (who does not have down syndrome) so sometimes the results are wrong.
Good luck


you have a friend who had a CVS done and was told that their baby had Downs, when it didn't?

that's is strange as the CVS is a 99% accuracy as it takes a sample, and looks at the genes, the can see the extra chromosome, it just doesn't tell you the severity of the disorder.
Hi I know this is an old thread but I’m just wondering how it turned out for you...
I have just received news that my baby has 1/16 chance of Downs and I can’t stop crying/worrying. I can’t sleep. I’m so scared.
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