Trisomy 18 what to do?

K

kimmi2405

New Member
Hi mummies,
I went for my Oscar scan and it showed a risk in trisomy 21 and 18 and my gynae asked me to go for a further testing to do harmony test and in the end it showed a high risk in trisomy 18 and was asked to do an amniocentesis:( I am quite skeptical to go for it and decided to seek for 2nd opinion with another gynae with fetal medicine expertise..in the end it showed some soft markers such as the baby having strawberry head skull but other features like face, hands and heart were all ok:( it breaks my heart but the 2nd gynae said during the Oscar scan they shld have detected it alr and ask me to do a CVS then to wait so long b4 doing am amnio:(
I really gone through so much during this pregnancy and it breaks my heart to hear this news. Any advice from mummies out there tt gone thru this b4?
 


ApplePieTing said:
Hi, i am sorry to hear. I have gone through this myself, I did amniocentesis and my girl is confirmed with Trisomy 13.

You mentioned the markers are strawberry head only, it will be better if you choose to do either CVS/ Amnio and then think of your next step.

You may also read through the sharings of fellow mamas who had gone through this painful process.

https://singaporemotherhood.com/forum/threads/support-group-mid-term-termination-of-pregnancy.4209/
Click to expand...
 
Hi Apple,
The soft markers that was seen in the ultrasound was strawberry head and feet abit bent inwards but hands,face features,internal organs like the heart all ok. But yes the gynae asked me to proceed with an amnio to be 100% sure.
 
Hi Kimmi,
I did the amnio too becuase the NIPT showed high risk for Trisomy 13 but there wasnt even a single marker! I couldnt believe it until i saw the full report which will approx be out within 2 weeks.

I hope all is well for you, pls be strong in this tough time.
 
ApplePieTing said:
Hi Kimmi,
I did the amnio too becuase the NIPT showed high risk for Trisomy 13 but there wasnt even a single marker! I couldnt believe it until i saw the full report which will approx be out within 2 weeks.

I hope all is well for you, pls be strong in this tough time.
Click to expand...


Hi Apple,
Your amnio results is out already??I'am scheduled for my amnio on 26th March:( I am extremely nervous and pretty devastated cuz I went for a 2nd opinion with Dr Henry Cheng this morning and he mention that some features like the strawberry head cld be seen alr after the Oscar scan and cld have gone for CVS instead of doing harmony test and now land up with high risk for trisomy 18 and I have to still proceed for Amnio in the end:( My heart is really devastated and I pray for a miracle that my little girl will be ok:( All I ever want was to give my 1st child who is 2 years old now a sibling:(
 
Hi Kimmi, that happened to me last year.

What i meant was amnio results was out within 2 weeks, sorry. My amnio escalated results out within 2 days did not show T13, but the full report after 2 weeks showed T13 in a % of the cells tested, which means not a full T13.

That was my first pregnancy, so I had doubts wether i can have another kid last time. But the doc told me it was just a spontaneous wrong division of cells in the early stages and not hereditary. I went to see various docs too.

I understand the feeling of sadness and dispair. But do have hope that all will go well and focus your attention on your first child and wait for the amnio results first, have faith, dont make any rushed decisions before the results out. Good to have hope to keep you going these few weeks (but also be mentally prepared for the worse case scenario) :((

I had posted my experience in the MidTerm Termination Preg page, as i had gained alot of encouraging sharings from mummies there before my amnio results.
 
Last edited:
ApplePieTing said:
Hi Kimmi, that happened to me last year.

What i meant was amnio results was out within 2 weeks, sorry. My amnio escalated results out within 2 days did not show T13, but the full report after 2 weeks showed T13 in a % of the cells tested, which means not a full T13.

That was my first pregnancy, so I had doubts wether i can have another kid last time. But the doc told me it was just a spontaneous wrong division of cells in the early stages and not hereditary. I went to see various docs too.

I understand the feeling of sadness and dispair. But do have hope that all will go well and focus your attention on your first child and wait for the amnio results first, have faith, dont make any rushed decisions before the results out. Good to have hope to keep you going these few weeks (but also be mentally prepared for the worse case scenario) :((

I had posted my experience in the MidTerm Termination Preg page, as i had gained alot of encouraging sharings from mummies there before my amnio results.
Click to expand...

Hi Apple,
Thank you so much for sharing and giving me the encouragement to go through this ordeal that am facing physically and emotionally:( Just scared for the amnio procedure and afraid of wad is to come:( Its reali so sad that this happened to me especially Trisomy 18 being so rare:( I really pray for a miracle:(
 
Hi, i just got a call from KK with results. Trisomy 18 Odds is 1 in 121.

So quite sad & nervous now. Just hope everyone in this thread is doing ok and fine.
 
Should we? Cos we already know the odds. Further test is only a test and not a cure. That's what I am thinking. If harmony test confirms that odds we are back to praying hard. If harmony shows higher risks we will be more worried. If harmony shows lower risk we will still be worried.

I was thinking of just praying. I'm sorry if i offend but we are just distraught right now.

Trisomy 13 is 1 in 2000 odds.
The other one is 1 in 1200.
 
Aug2020parent said:
Should we? Cos we already know the odds. Further test is only a test and not a cure. That's what I am thinking. If harmony test confirms that odds we are back to praying hard. If harmony shows higher risks we will be more worried. If harmony shows lower risk we will still be worried.

I was thinking of just praying. I'm sorry if i offend but we are just distraught right now.

Trisomy 13 is 1 in 2000 odds.
The other one is 1 in 1200.
Click to expand...

If u want 100% sure, have to do amino. I know is hard but even is 1% unknown (as harmony only 95% accurancy) i also dun want to take risk without the unknown of 5%.
 
U mean harmony will let us know 99% if our baby have trisomy 18? Or will it be like FTS which gives us the odds.

Sorry its our first pregnancy we not sure abt many things.
 
Aug2020parent said:
U mean harmony will let us know 99% if our baby have trisomy 18? Or will it be like FTS which gives us the odds.

Sorry its our first pregnancy we not sure abt many things.
Click to expand...


fetalmedicine.com

Non-invasive Prenatal Testing - The Fetal Medicine Centre

Non-invasive prenatal testing (NIPT) analyses cell free DNA in maternal blood and gives a strong indication of whether the baby is at high or low chance of
fetalmedicine.com fetalmedicine.com

U can see the detail from the link above. Discuss with ur doctor what are the odds of this test
 
Hi all,
My wife is not into forum discussions, so I am coming in here to seek some advice. I have read a lot before coming here. Gathered from all my readings that the OSCAR or even HARMONY test might not be accurate For Trisomy 21, 18 and 13. But nevertheless, we thought of opting for the HARMONY (NIPT) test skipping the OSCAR test. Is it recommended? doug some Budget planning. Thanks everyone.
 
Inspireme2020 said:
Hi all,
My wife is not into forum discussions, so I am coming in here to seek some advice. I have read a lot before coming here. Gathered from all my readings that the OSCAR or even HARMONY test might not be accurate For Trisomy 21, 18 and 13. But nevertheless, we thought of opting for the HARMONY (NIPT) test skipping the OSCAR test. Is it recommended? doug some Budget planning. Thanks everyone.
Click to expand...
I wanted to do the same thing in kkh, but they won't recommend this as Oscar include some basic scanning of baby features, but nipt is merely jus test with ur sample of blood. So we stil jus proceed with Oscar and then result is high risk, we proceed striaght to amniocentesis cos we wan a 100% sure result.
Hope it helps.
 
Inspireme2020 said:
Hi all,
My wife is not into forum discussions, so I am coming in here to seek some advice. I have read a lot before coming here. Gathered from all my readings that the OSCAR or even HARMONY test might not be accurate For Trisomy 21, 18 and 13. But nevertheless, we thought of opting for the HARMONY (NIPT) test skipping the OSCAR test. Is it recommended? doug some Budget planning. Thanks everyone.
Click to expand...

Hi. Kkh, recommended doing an oscar first since it includes a detailed scan which the harmony test doesn’t include. If it’s high risk, then you could proceed with the harmony test or straight with amnio. All the best!
 
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