Genetic Ultrascan vs Amniocentesis

Hi milkcandy, Harmony test is also take our blood sample and send to US right . My gynae told me harmony test is not that accruate for twins as it is unable to determine which twin is affected. My T21 is 1:774 for T1 and 1:1000 for T2. Cut off is 1000 so I belong to intermediate risk, not low or high, hence amnio is recommended. Also I need to be poke twice for twins so the risk is 2% tog , haiz . Hubby suggested just go for it cos at least we can know the outcome accruately . I really hope I will be fine after the test . By the way, how did u take care yourself on the poking day and how many days u rested?? Just wanna mentally prepared and arrange for any help . Thanks


Yes, Harmony test is done in the lab in US. Yes, Harmony does not detect which twin is affected if the results come back abnormal as I've mentioned in my earlier post - If the results come back normal, that's great. However if the result comes back abnormal, then Amnio is unavoidable. I though the cut off is just 1:300. Your risk doesn't seem that high compared to mine. Mine was 1:5 and 1:61!

Whether or not you will be poked twice depends on the babies' positions and the doctor's skills. I only got poked once. But yes, each sac will be poked to retrieve the respective amniotic fluid.

I just bed rest after the procedure for the rest of the day. As mentioned in my detailed post, the day following the procedure was CNY eve and I still went out for reunion dinner. For the following 2 days, I resumed normal activities, but I took it easy - not much moving around. I was able to go visiting and gatherings but again - I watched what I ate and minimized movements.

If if makes you feel more at ease, you can rest in bed and not move for the next few days, although I was only advised to bed rest for one day.
 


I'm 19w6d today. Don't worry too much as it will not make you feel any better. Stay positive!

milkcandy , understand u are under kkh now , do u still see a separate pte gynae since twins will have more issues and need to be monitor closely. Am thinking of changing my pte gynae cos I don't feel comfortable with him so trying to find out more from others . Can we still change gynae on week 14?
 
milkcandy , understand u are under kkh now , do u still see a separate pte gynae since twins will have more issues and need to be monitor closely. Am thinking of changing my pte gynae cos I don't feel comfortable with him so trying to find out more from others . Can we still change gynae on week 14?
Yes I'm with Dr THH at KKH. I did see a Pte gynae for second opinion when I had the terrible Oscar results. But that was just once. I feel comfortable with Dr THH and I do see him enough so far. When I wanted to see him urgently to consult his opinion on whether I should go for Amnio, his assistant was able to slot me in without an appt. My friend who had twins did recommend that I see a pte gynae concurrently because if there are any issues (touch wood) i'd be able to see the gynae instead of any other doctor at the 24hr O&G clinic at KKH. So I'll still keep the pte gynae in my back pocket if there is really an emergency.

I'm not sure if 14 weeks still can change gynae, I think it really depends on the doctor, so I would call the clinic and check for clarity.
 
Hi Ladies.. my Oscar result yesterday..
I am 33 y o.
Seem like is a just pass result. Should i be worried and wait for detailed scan? My #4 tis round.
 

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Hi Ladies.. my Oscar result yesterday..
I am 33 y o.
Seem like is a just pass result. Should i be worried and wait for detailed scan? My #4 tis round.
Apchen did I see correctly that the ratios are 1:898 and 1:17969? That's a very low risk result.... the cutoff from KKH is 1:300!
 
If my wife has already done amino test, any point to go for the genetic scan?
IMO, it's not necessary since the amnio test would provide you results for all chromosomes. And soon after she'll be due for the week 20 detailed scan right?
 
IMO, it's not necessary since the amnio test would provide you results for all chromosomes. And soon after she'll be due for the week 20 detailed scan right?

She has already done the detailed scan at 20 weeks. She was advised to go for the amino test due to some findings at the detailed scan.

So the genetic scan and amino test is quite similar and give the same kind of findings?
 
She has already done the detailed scan at 20 weeks. She was advised to go for the amino test due to some findings at the detailed scan.

So the genetic scan and amino test is quite similar and give the same kind of findings?

Has ur wife done Harmony or Oscar? If I'm not wrong, Amnio is the most accurate diagnostic test. Genetic scan is not diagnostic, if there is anything abnormal identified during the genetic scan, Anandakumar will still likely to suggest that you do amnio (i.e. if Harmony was already done). Harmony only tests for T21 whereas Amnio tests for all chromosomes.
For me, Anandakumar suggested that I do Harmony after the genetic scan.
I went for the genetic scan because i was afraid to do amnio due to risk of miscarriage. But I went ahead to do amnio anyways since it's more breadth in terms of the chromosomes tested.
 
Has ur wife done Harmony or Oscar? If I'm not wrong, Amnio is the most accurate diagnostic test. Genetic scan is not diagnostic, if there is anything abnormal identified during the genetic scan, Anandakumar will still likely to suggest that you do amnio (i.e. if Harmony was already done). Harmony only tests for T21 whereas Amnio tests for all chromosomes.
For me, Anandakumar suggested that I do Harmony after the genetic scan.
I went for the genetic scan because i was afraid to do amnio due to risk of miscarriage. But I went ahead to do amnio anyways since it's more breadth in terms of the chromosomes tested.

Yeah she has done oscar at 16 weeks I guess. Low risk at that time.

Oh, cos I thought the genetic scan can check for any physical and organ defects too, whereas the amino is more for checking Down syndrome and other chromosomes issues.
 
My panaroma test results is 1:1.01,high risk at 99% for t21 chromosome,very sad,my Gynae suggested aminocentesis,lower risk than cvs coz I might be too big for cvs,still very sad now,every night will wake up in the middle of the night,i have scheduled an appointment with dr anandas this coming Friday lunch time,yesterday afternoon saw Gynae with regard to my test results,he and his Nurses have no sense of empathy for my case and just brushed my hubs and I aside,very sad :(
 
My panaroma test results is 1:1.01,high risk at 99% for t21 chromosome,very sad,my Gynae suggested aminocentesis,lower risk than cvs coz I might be too big for cvs,still very sad now,every night will wake up in the middle of the night,i have scheduled an appointment with dr anandas this coming Friday lunch time,yesterday afternoon saw Gynae with regard to my test results,he and his Nurses have no sense of empathy for my case and just brushed my hubs and I aside,very sad :(

Really very sorry to hear that and I wish you well. Pls go for amino and hope it will be low risk for you. Whatever decision you and your hubby made, pls do not blame yourself. God bless u.
 
Really very sorry to hear that and I wish you well. Pls go for amino and hope it will be low risk for you. Whatever decision you and your hubby made, pls do not blame yourself. God bless u.
Have you done amino before?im very scared,Everyday having sleepless nights
 
Hi everyone, just like to share my husband's and my experience after a bad oscar test result. Hope it helps other parents in a similar situation.

I'm 29, having my first child. We did the oscar scan and got a 1:19 result (high risk, 5% chance that the baby has DS which is very high for based on my age).

Our dilemma:
My gynae advised to do the amino test (invasive test where fluid from the placenta is taken for testing) with such bad results. He said that past patients with similar results (1:12, 1:16, 1:30, etc) have, in most cases, came back negative (no DS) after the amino test. As you may know amino carries a 0.5-1% chance of miscarriage so we were very apprehensive of putting the baby at risk when he/she is most likely completely normal.

The alternative is a more expensive option with non-invasive tests (various brands in the market but all about the same) where similar to the oscar, a blood sample is taken from the mother so no risk of miscarriage.

Here's a comparison of the three options:

OSCAR

- 95% accurate
- screening test (has a 5% chance of false positive)
- test to be done between 11- end of 13 weeks
- results in 7-10 days (doc will call you in as early as 2-3 days if risk is high)
- Non-invasive procedure: no risk of miscarriage
- $340 (non-subsidised)

Other non-invasive test (Harmony, iGene, etc)

- 99% accurate
- screening test (for iGene there is a 0.4% chance of false positive)
- can be done from 10 weeks
- will get to know baby's gender
- results in 10 working days
- Non-invasive procedure: no risk of miscarriage
- expensive: $1.6-1.8k (non-subsidised)

Amino test
- 100% accurate
- Diagnostic test (confirms baby has DS or no DS)
- will get to know baby's gender
- Invasive procedure: 0.5-1% chance of miscarriage
- about $500, can be subsidised by medisave

Our choice: iGene (brand offered by our gynae) to avoid any risk of miscarriage
Our result: Screen Negative for DS - 1:2,405,016

Overall Thoughts:

It has been a really stressful 2 weeks from receiving the first bad Oscar result, deciding what option to take, and waiting for the results. Looking back, we probably wouldn't have even done the Oscar test to avoid the necessary stress. Having said that, we would still consider doing the other more accurate non-invasive test for our subsequent kids, especially since I would be older (higher risk).

I found this article on another forum page, which was written when new non-invasive tests were introduced in Singapore. What was interesting is that the result for all 43 high-risk first screening (likely Oscar) moms who did the test came back negative. So it really just goes to show that the first test is not that accurate.
http://health.asiaone.com/health/health-news/non-invasive-test-screen-down-syndrome
 
Yes I'm with Dr THH at KKH. I did see a Pte gynae for second opinion when I had the terrible Oscar results. But that was just once. I feel comfortable with Dr THH and I do see him enough so far. When I wanted to see him urgently to consult his opinion on whether I should go for Amnio, his assistant was able to slot me in without an appt. My friend who had twins did recommend that I see a pte gynae concurrently because if there are any issues (touch wood) i'd be able to see the gynae instead of any other doctor at the 24hr O&G clinic at KKH. So I'll still keep the pte gynae in my back pocket if there is really an emergency.

I'm not sure if 14 weeks still can change gynae, I think it really depends on the doctor, so I would call the clinic and check for clarity.

Hi Milkcandy. I'm going for amnio next week. Did you choose the doc who going to do amnio during that time? I have bad experience with the apprentice (which i think they still learning cause they poke me 3 times and make my back pain for more than 1 month). Therefore I wonder who going to do the amnio later on? or is it better to choose my own doctor to do amnio?
 
Hi Milkcandy. I'm going for amnio next week. Did you choose the doc who going to do amnio during that time? I have bad experience with the apprentice (which i think they still learning cause they poke me 3 times and make my back pain for more than 1 month). Therefore I wonder who going to do the amnio later on? or is it better to choose my own doctor to do amnio?

No, I did not choose doctor and it was Prof Yeo Seow Heong who performed the amnio for me. I understand from Dr THH that there are only a few doctors who can perform Amnio at KKH.
What procedure was it that they poked you 3 times and caused back pain?
 
No, I did not choose doctor and it was Prof Yeo Seow Heong who performed the amnio for me. I understand from Dr THH that there are only a few doctors who can perform Amnio at KKH.
What procedure was it that they poked you 3 times and caused back pain?

Cleaning the womb, but during the anasthesia the girl poke my spine in a wrong place for 2 times before she can find the right position. It cause my back pain for quite long and can't even sit or walk properly for first few days.
 
Cleaning the womb, but during the anasthesia the girl poke my spine in a wrong place for 2 times before she can find the right position. It cause my back pain for quite long and can't even sit or walk properly for first few days.

Was that for your precious delivery?...
 
Hi Everyone.. I hope this thread is still active and someone can give advise on my condition. I just got the result of my OSCAR test with 1:5 the NT thickness caused this but the measurement was not mentioned. I am 29yrs old right now and this is my first baby. My OB mentioned that there's a high risk of DS and advised to go for NIPT (Panorama Test) with 99% accuracy. Since I have read some positive notes here after doing the Genetic Scan with Dr. Ananda, I am considering of going for the detailed scan instead of having a panorama test. Should I go for NIPT for now while waiting for 14weeks to have the Genetic Scan? I am very worried and I can't decide. :(
 
Genetic scan cost between $500-$600, basically another detail ultrasound scan Dr Ananda will perform by himself and try to estimate the risk level of the baby having DS.

I would suggest you to go for Panorama or Harmony test instead. It's a simple blood test, analyses baby's (placental) DNA.
It only requires 10 days - 2weeks to know the results.

I heard from other mummies sometimes Dr Ananda will still suggest you to take either Panorama or Harmony test for peace of mind, after the genetic scan.

When I had my second son at 36yo, the OSCAR results returned poorly as well.
My gynae suggested Harmony test, and my son was cleared of DS.
For my third pregnancy this time, I skipped everything and go straight to Panorama at 11wks.
 
Genetic scan cost between $500-$600, basically another detail ultrasound scan Dr Ananda will perform by himself and try to estimate the risk level of the baby having DS.

I would suggest you to go for Panorama or Harmony test instead. It's a simple blood test, analyses baby's (placental) DNA.
It only requires 10 days - 2weeks to know the results.

I heard from other mummies sometimes Dr Ananda will still suggest you to take either Panorama or Harmony test for peace of mind, after the genetic scan.

When I had my second son at 36yo, the OSCAR results returned poorly as well.
My gynae suggested Harmony test, and my son was cleared of DS.
For my third pregnancy this time, I skipped everything and go straight to Panorama at 11wks.

Thank you for your response hippo78. Good to know that your babies are fine. I just called Dr. Ananda's clinic and gave me an appointment on my 14weeks. The price for the genetic scan will range from $650-680. If the Panorama/Harmony result is clear, do you think going for Genetic Scan is still necessary?
 
Thank you for your response hippo78. Good to know that your babies are fine. I just called Dr. Ananda's clinic and gave me an appointment on my 14weeks. The price for the genetic scan will range from $650-680. If the Panorama/Harmony result is clear, do you think going for Genetic Scan is still necessary?
Hi dear, my doc said there's no nipt that can give 100%answer except amnio. The nipt only show low or high risk but also not 100% guarantee. My nipt show there's a risk for triple x chromosome but my amnio result show all normal.
But there's no harm if you want to try. Don't believe too much with Oscar test. It just make you worries.
Pray for the best and have faith.
 
Hi dear, my doc said there's no nipt that can give 100%answer except amnio. The nipt only show low or high risk but also not 100% guarantee. My nipt show there's a risk for triple x chromosome but my amnio result show all normal.
But there's no harm if you want to try. Don't believe too much with Oscar test. It just make you worries.
Pray for the best and have faith.


Hi Tyna,

As much as I'd like not to worry, it still bothers me. Anyway I still have few days to think and decide weather to go or not with NIPT. It seems to me that if I proceed on this test it will be an additional worry while waiting for the result.

I have read few positive notes after their OSCAR test with high risk result but their baby came out with no complication. Right now what I strongly need is Faith and Pray Harder. :)
 
Hi Tyna,

As much as I'd like not to worry, it still bothers me. Anyway I still have few days to think and decide weather to go or not with NIPT. It seems to me that if I proceed on this test it will be an additional worry while waiting for the result.

I have read few positive notes after their OSCAR test with high risk result but their baby came out with no complication. Right now what I strongly need is Faith and Pray Harder. :)

Yes, I know how you feel. Especially when it's related to our baby, but sometimes what we can do only pray.
Mostly ppl only choose Oscar for the scan but the blood test result is not reliable. Be positive dear, happy mommy bring a happy baby. I wish u and ur baby all the best.
 
Hi All.. I hope this thread is still alive..

I am 10w+4 now and have scheduled Panorama (in 9 days time) straight without going through Oscar as I understand that Oscar takes into many other factors which might provide a worrisome result. I am turning 33 in 2 months time and this is my first successful pregnancy, had a miscarriage a year ago.

I have also made an appointment for Genetic Scan with Dr Ananda, which they scheduled on my 14w.

May I ask for your kind opinion whether it is redundant to schedule both?
 
Hi everyone, just like to share my husband's and my experience after a bad oscar test result. Hope it helps other parents in a similar situation.

I'm 29, having my first child. We did the oscar scan and got a 1:19 result (high risk, 5% chance that the baby has DS which is very high for based on my age).

Our dilemma:
My gynae advised to do the amino test (invasive test where fluid from the placenta is taken for testing) with such bad results. He said that past patients with similar results (1:12, 1:16, 1:30, etc) have, in most cases, came back negative (no DS) after the amino test. As you may know amino carries a 0.5-1% chance of miscarriage so we were very apprehensive of putting the baby at risk when he/she is most likely completely normal.

The alternative is a more expensive option with non-invasive tests (various brands in the market but all about the same) where similar to the oscar, a blood sample is taken from the mother so no risk of miscarriage.

Here's a comparison of the three options:

OSCAR

- 95% accurate
- screening test (has a 5% chance of false positive)
- test to be done between 11- end of 13 weeks
- results in 7-10 days (doc will call you in as early as 2-3 days if risk is high)
- Non-invasive procedure: no risk of miscarriage
- $340 (non-subsidised)

Other non-invasive test (Harmony, iGene, etc)

- 99% accurate
- screening test (for iGene there is a 0.4% chance of false positive)
- can be done from 10 weeks
- will get to know baby's gender
- results in 10 working days
- Non-invasive procedure: no risk of miscarriage
- expensive: $1.6-1.8k (non-subsidised)

Amino test
- 100% accurate
- Diagnostic test (confirms baby has DS or no DS)
- will get to know baby's gender
- Invasive procedure: 0.5-1% chance of miscarriage
- about $500, can be subsidised by medisave

Our choice: iGene (brand offered by our gynae) to avoid any risk of miscarriage
Our result: Screen Negative for DS - 1:2,405,016

Overall Thoughts:

It has been a really stressful 2 weeks from receiving the first bad Oscar result, deciding what option to take, and waiting for the results. Looking back, we probably wouldn't have even done the Oscar test to avoid the necessary stress. Having said that, we would still consider doing the other more accurate non-invasive test for our subsequent kids, especially since I would be older (higher risk).

I found this article on another forum page, which was written when new non-invasive tests were introduced in Singapore. What was interesting is that the result for all 43 high-risk first screening (likely Oscar) moms who did the test came back negative. So it really just goes to show that the first test is not that accurate.
http://health.asiaone.com/health/health-news/non-invasive-test-screen-down-syndrome

Hi I hope u stil see this on this forum.
My risk for DS is 1:27 for T21 and I have been advised to go for CVS but I wanted to go for amnio instead for a 100% accuracy and lower probability of miscarriage. I am very worried becoz my appointment for amnio is at week17 and I only know my result at week 19 likely. My baby has stomach also scan to be in the wrong position. Hence I had no choice but to go for the invasive test may I know. For iGene was it accurate? How is ur baby now? I m v stressed now.. hope someone see this and advice me ..
 
Hi I hope u stil see this on this forum.
My risk for DS is 1:27 for T21 and I have been advised to go for CVS but I wanted to go for amnio instead for a 100% accuracy and lower probability of miscarriage. I am very worried becoz my appointment for amnio is at week17 and I only know my result at week 19 likely. My baby has stomach also scan to be in the wrong position. Hence I had no choice but to go for the invasive test may I know. For iGene was it accurate? How is ur baby now? I m v stressed now.. hope someone see this and advice me ..

Hi dear, I'm ot sure for the Igene but I went for amnio n cma. All result come out good.
But still my baby have heart issue.
Let me share some experience with u. Previously before amnio I did Oscar test n nipt test.

Nipt test come out with risk of triple x x which is confirm clear with amnio.
Oscar scan come out with some issue during twelve weeks. The follow up scan which is on 14 weeks the issue start to resolve even through not 100%resolve.

Another scan which is 20weeks scan also come with few issue which make us very down n stress. The next scan at 24weeks one of the issue resolve. N at 27weeks 2 issue resolve.

What I learn from this maybe each baby take their own time to develop. N I know technology is very good now that we can pick up few thing far before edd. But I believe no matter how good it's it's still a technology n miracle can happen anytime. Just pray and have faith n do what u think is the best for u. Trust ur instinct as u r the mother.
 
Hi dear, I'm ot sure for the Igene but I went for amnio n cma. All result come out good.
But still my baby have heart issue.
Let me share some experience with u. Previously before amnio I did Oscar test n nipt test.

Nipt test come out with risk of triple x x which is confirm clear with amnio.
Oscar scan come out with some issue during twelve weeks. The follow up scan which is on 14 weeks the issue start to resolve even through not 100%resolve.

Another scan which is 20weeks scan also come with few issue which make us very down n stress. The next scan at 24weeks one of the issue resolve. N at 27weeks 2 issue resolve.

What I learn from this maybe each baby take their own time to develop. N I know technology is very good now that we can pick up few thing far before edd. But I believe no matter how good it's it's still a technology n miracle can happen anytime. Just pray and have faith n do what u think is the best for u. Trust ur instinct as u r the mother.

Thank u for sharing ur experience. I am going for another scan at 14weeks and I remain hopeful.. I don't want to lose hope but part of me tells me to be prepared for the worst. May I know where the issues ur baby faced with something which require surgery to fix or Long term medication ? U r at 27 weeks now?
I would not give up till week 20. I will do amnio and I will do the FA scan ...Unless there is really issue which cannot be fixed ..my Husband and I are trying so hard not to "bond" so much with this pregnancy now becoz we r both prepare and ready for a tough decision.. it is saddening and stressful to Keep silently hopefully and yet has to be rational enough to be prepared for worst which I really don't want to happen.
 
Doc diagnosed that my baby have a heart defect. and I'm 30 weeks now.
It's good to bond with your baby my dear. no matter what decision you make in the end at least u enjoy ur time with the baby and you have your own memory for this pregnancy. Therefore be happy. A happy mother bring a happy baby.
All the best for you :)
 
Thank u for sharing ur experience. I am going for another scan at 14weeks and I remain hopeful.. I don't want to lose hope but part of me tells me to be prepared for the worst. May I know where the issues ur baby faced with something which require surgery to fix or Long term medication ? U r at 27 weeks now?
I would not give up till week 20. I will do amnio and I will do the FA scan ...Unless there is really issue which cannot be fixed ..my Husband and I are trying so hard not to "bond" so much with this pregnancy now becoz we r both prepare and ready for a tough decision.. it is saddening and stressful to Keep silently hopefully and yet has to be rational enough to be prepared for worst which I really don't want to happen.

Hi, totally understand about the try hard not to bond. Hope all is fine for u at the end.

I am 29. just had bad Oscar result for T21. Waiting for harmony test which takes 3 weeks in kkh. Thinking to call up Prof Ananda to see when he can slot me in.
 
Hi I hope u stil see this on this forum.
My risk for DS is 1:27 for T21 and I have been advised to go for CVS but I wanted to go for amnio instead for a 100% accuracy and lower probability of miscarriage. I am very worried becoz my appointment for amnio is at week17 and I only know my result at week 19 likely. My baby has stomach also scan to be in the wrong position. Hence I had no choice but to go for the invasive test may I know. For iGene was it accurate? How is ur baby now? I m v stressed now.. hope someone see this and advice me ..

Dear lovely mom,

NT scan at 12 weeks shown no risk.. however 20th week anamoly scan shown a tiny echogenic intracardiac focus in left ventricle of heart which is a soft marker for down syndrome. Our little angel is doing fine in terms of all measurements except this . Following this doctor advised to do a NIPT harmony test. We did this and results came out as high risk (99%). Doctor advised to do amniocentesis to confirm Down syndrome as it’s a diagnostic test whereas NIPT is just a screening test. As am in 21st week doing this invasive test will harm my baby as there is a mild chance of miscarriage. Also doing this test as mentioned by doctor is to terminate pregnancy or prepare ourselves mentally strong for a Down syndrome baby . We decided to keep our baby, she is gifted to us and no matter what happens she is ours. Any one who undergone this similar situation but any miracles happened later that is baby born without Down syndrome or the soft marker cleared on its own during subsequent scanning? My baby has nasal bone present and she is fine with all measurements . She was sucking her cute little thumb in last scan. Any words of hope and guidance greatly appreciated,!
 
moral of the story of this thread and a ton of similar threads.

Ignore OSCAR results and go straight for panaroma or harmony. Only worry if that says high risk..
 
Dear lovely mom,

NT scan at 12 weeks shown no risk.. however 20th week anamoly scan shown a tiny echogenic intracardiac focus in left ventricle of heart which is a soft marker for down syndrome. Our little angel is doing fine in terms of all measurements except this . Following this doctor advised to do a NIPT harmony test. We did this and results came out as high risk (99%). Doctor advised to do amniocentesis to confirm Down syndrome as it’s a diagnostic test whereas NIPT is just a screening test. As am in 21st week doing this invasive test will harm my baby as there is a mild chance of miscarriage. Also doing this test as mentioned by doctor is to terminate pregnancy or prepare ourselves mentally strong for a Down syndrome baby . We decided to keep our baby, she is gifted to us and no matter what happens she is ours. Any one who undergone this similar situation but any miracles happened later that is baby born without Down syndrome or the soft marker cleared on its own during subsequent scanning? My baby has nasal bone present and she is fine with all measurements . She was sucking her cute little thumb in last scan. Any words of hope and guidance greatly appreciated,!

Just saw this thread that was inactive and saw your post.
Stay strong for your baby! You know you got this inner strength and life won't give you anything that you cannot handle!
 
Dear lovely mom,

NT scan at 12 weeks shown no risk.. however 20th week anamoly scan shown a tiny echogenic intracardiac focus in left ventricle of heart which is a soft marker for down syndrome. Our little angel is doing fine in terms of all measurements except this . Following this doctor advised to do a NIPT harmony test. We did this and results came out as high risk (99%). Doctor advised to do amniocentesis to confirm Down syndrome as it’s a diagnostic test whereas NIPT is just a screening test. As am in 21st week doing this invasive test will harm my baby as there is a mild chance of miscarriage. Also doing this test as mentioned by doctor is to terminate pregnancy or prepare ourselves mentally strong for a Down syndrome baby . We decided to keep our baby, she is gifted to us and no matter what happens she is ours. Any one who undergone this similar situation but any miracles happened later that is baby born without Down syndrome or the soft marker cleared on its own during subsequent scanning? My baby has nasal bone present and she is fine with all measurements . She was sucking her cute little thumb in last scan. Any words of hope and guidance greatly appreciated,!

When I had my twins their OSCAR both came back high risk. As they are twins I could not do Harmony. Turned to Dr Ananda to do diagnostic scan as I was afraid to do amnio, results also came back high risk. In the end, I decided to go Amnio at KKH with encouragement of Dr THH. Thank heavens they turned out alright. The Dr at KKH was very steady and I felt no fear when he was doing the procedure for me as he had really steady hands!

wishing you best of luck!
 

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