Down syndrome

Littlesunshines

New Member
Hey aaa111,

Sure will do. Ok so, I had my cvs booked on a Wednesday after receiving my oscars high-risk result on Monday. My appointment was at 1.30pm and we were advised to go into the clinic 15 minutes earlier for registration. Queue number was issued, and when we were called, the nurse brought us to a private room and had the procedure explained to us, including the risks and the additional $300-400 if we opted for the 'express result' which was what we did.
During the procedure, the doctor first sanitize the tummy area, and injected a local anesthesia to numb the area where he was going to insert the needle used to extract the fluid. He explained to me that the first needle is gonna be hollow, followed by the second one which will do the pumping. Now, I'll be lying if I say the inserting part didn't hurt. It hurts when it touches the placenta area, but it's bearable in my opinion. Another sonographer scanned the tummy to get the right directions for the doctor and also to ensure baby heartbeat is still beating. The whole process took less than 10 minutes, and the pumping out part didn't hurt for me. After it was over, they spray antiseptic lotion over and have a plaster over the wound. And once again the sonographer reassured me that the baby heartbeat is still beating. I was prescribed with progesterone and antibiotics and advised to bed rest for at least 2-3 days, no lifting of my daughter and using strength.
Right now I'm still on bed rest from the procedure and I actually had the side effect from the progesterone which is drowsiness and dizziness
So for mummies who are deciding whether to go ahead with the procedure, I hope I had painted a better picture for you before you make your decision. Personally I felt that the test did gave me a great peace of mind after knowing that everything is going well for this pregnancy but yet again, I have to say it's your decision after all because it's your body and no one knows it better than you do.
 

aaa111

Active Member
Hey aaa111,

Sure will do. Ok so, I had my cvs booked on a Wednesday after receiving my oscars high-risk result on Monday. My appointment was at 1.30pm .......................
Thank you mummy for sharing so much. You can call me a KPO, but i am just very curious and got a few more questions. If you are free and free like answering them is ok ya. If no reply is also perfectly ok de.

1) Your hubby allow to come into the room when you do the process?

2) How much does the CVS cost? Private or subsidy patient. Can use medisave?

3) Is it your chosen gynac who is the doctor who carry out the CVS or it is a randomly assigned doctor who does it?

4) You mention express service cost $300-$400 more. So what is the estimated waiting time for the result under normal & express services?

5)You mention bed rest for 2-3 day. I am assuming CVS is a like a day surgery procedure? correct? is there an option for you to be warded for that 2-3 days so that you can be monitored more closely?

Sorry for asking so much. Thank you.
 

Littlesunshines

New Member
Hey no worries ! I'll be more than happy to share :)

1) during explanation of procedure yes, but during procedure no.. He's not allowed to be in the room

2) I went to Thomson medical for mine so it was $2200 before medisave claim of $700

3) my gynae recommended this doctor.. As there are only a few qualified doctors in Singapore who does it

4) for express results it's 48 hours.. For the normal result is 2 weeks

5) from what I understand it's an outpatient procedure.. So to be warded I guess you might need to find out more about it from the nurses there. For me I sat outside the room for 20mins after the process to rest before feeling it's ok to stand up to walk. I think it depends on individual

I hope I clear your doubts aaa111 !
 

aaa111

Active Member
Hey no worries ! I'll be more than happy to share :)

I hope I clear your doubts aaa111 !
Thanks a million mummy, really learn more about CVS from you. I like to thank you on behalf of all the mummy and daddy here who might be currently at the crossroad to decide whether to proceed with this procedure.

All the best.
 

Littlesunshines

New Member
No worries aaa111 Because I was as confused when I was faced with the situation and options and I was frantically searching for answers to my questions. I hope I helped any future mummies or daddies considering the procedure.
 

ting1977

New Member
I am 39 years old and my OSCAR results was 1:200. My gynae told me that the risk is low and I need not go for further tests. I am still contemplating if I should go for further tests such as Harmony.
 

thi ha

New Member
Most of us (me included), really are too happy with getting pregnant that when asked to go for this SCREENING test or that, we do not realise the implications.

I assumed it was just standard protocol to go for the latest SCREENING suggested by the Dr.

When the SCREENING results came back, I scrambled to get more information of what the results meant and we debated the ethical, moral, social, financial, support, short and long term implications.

I dug deep and found that I could accept an extra chromosome that is healthy with no major heart and lung issues. Everything else is not certain.

Yet at 16W, heart and lungs indicators/markers were not good, I feared complications in 3rd trimester with a similar outcome.

Coupled with my other half who could only accept a 1st child with normal chromosome, we agreed on our next courses of action.

Doctors do not support termination on SCREENING even with NT Ultrsound Scan. So no choice, need to do amnio at 16W for the diagnostics results and accept that very minor miscarriage risk.

Unfortunately, statistical results applied to us and we had to correct our mindset and accept that we had to go through a MTPT.

In consolation, we can ovulate soon after a MTPT before AF and get back on the journey biologically.

Emotionally and psychologically, it will take time and depend on individuals though.

Dortor recommend for AF to regulate for 2 months before trying.

Has anyone been really successful with a healthy child soon after MTPT? Drs., do not have statistics for this.

In my next pregnancy, I will enjoy the experience cautiously and skip SCREENING since the only action from SCREENING like PANORAMA is just WORRY and enjoy till amniocentisis week.

But if by then, my eggs are depleted and a child regardless down or not (cause there are so many other anomalies where no screening is available), is important, will I opt out of PANORAMA and just do regular 20 weeks scan after belly has grown, fetus grown more and kicking felt?

I do not know the future. It seems each visit is a gamble.
Sorry to hear that. Any history of Down syndrome on both families? I guess it is high chance though.
It is like diabetes or high blood pressure.
My side has high blood pressure and my wife side has diabetes.
So our daughter is likely to inherit those thing. Hopefully no though.

Anyway, hopefully you got healthy one after the bad experience. My wife had one miscarriage in back in 2014 March and got to abort on in sept or oct due to fetus stopped growing at 6 weeks. Now with new one due in June. Be healthy and do lots of good deeds.
If there is god, he/she won't send you a down syndrome child in the first place. Good luck and
Cheers.
 

aaa111

Active Member
I am 39 years old and my OSCAR results was 1:200. My gynae told me that the risk is low and I need not go for further tests. I am still contemplating if I should go for further tests such as Harmony.
Hello, Actually both of you should decide whether ***touchwood*** if really down sydrome, do you still want to continue the preggency. If the answer is YES, then dun waste your $$$ to do test. If the answer is Maybe OR NO, then you can consider doing a harmony or panaroma test. Cheapest place in SG to do this i think is KKH. They offer panaroma test only. These two test are pretty much indentical, just from different vendor. Think alone the line of Nissan & Toyota.

Oh ya, both of these test are 99% accurate but they carry zero risk of miscarriage. If you must know for 100% sure, then skip these test and go for CVS test instead but note that there is a tiny risk of miscarriage.

All the best
 

winleobee

Member
I am 39 years old and my OSCAR results was 1:200. My gynae told me that the risk is low and I need not go for further tests. I am still contemplating if I should go for further tests such as Harmony.
hi ting, i am 39 this year too & my oscar results 1:363. my gynae said it is borderline risk as cut-off is 300 & gave us the option of panorama. i'm with thomson women's clinic. may i know who u are with?
 

hi_mei

Well-Known Member
Hi mummies

I just finished OSCAR and my overall risk is low and also all organs normal and nasal bone present. However, the NT measurement is very high (3.7mm), so the doctor asked for me to come for additional scan two weeks later. He said no need for CVS as overall risk is low so likely CVS cannot pick up anything.

He said it may be a genetic condition that is not down's syndrome, trisomy 18 etc. i am so stressed!!! Anyone in similar situation?

Thanks.
 

maryh

Member
Hi mummies

I just finished OSCAR and my overall risk is low and also all organs normal and nasal bone present. However, the NT measurement is very high (3.7mm), so the doctor asked for me to come for additional scan two weeks later. He said no need for CVS as overall risk is low so likely CVS cannot pick up anything.

He said it may be a genetic condition that is not down's syndrome, trisomy 18 etc. i am so stressed!!! Anyone in similar situation?

Thanks.
Hugs, Mommy Hi_Mei,
Can understand how you feel right now. Trisomy 18 is a very rare condition and I know of two families who have children with this diagnosis. The parenting journey is definitely not easy, but I see happiness and hope in these families.

Would like to add my two cents' worth. Medical tests, though claiming to be almost 100% accurate, will never be 100% accurate. We can only make a calculated guess. Some of my friends had no problems with all the pre-natal tests available, but the child came out with a condition. On the other hand, many I know had worries after knowing their pre-natal test results, but they went ahead with the pregnancy with hope and the child was fine.

This thread is on Down syndrome - a topic close to my heart. I have a girl with Down syndrome, and if I were to do this all over again, I'll still choose to keep her. She is the sweetest child I know.

If you are interested to see my life as a parent of a child with DS, here are some:
http://simplylambchops.blogspot.sg/2013/02/im-thankful-for.html
http://simplylambchops.blogspot.sg/2014/10/october-is-down-syndrome-awareness-month.html
 

hi_mei

Well-Known Member
Hugs, Mommy Hi_Mei,
Can understand how you feel right now. Trisomy 18 is a very rare condition and I know of two families who have children with this diagnosis. The parenting journey is definitely not easy, but I see happiness and hope in these families.

Would like to add my two cents' worth. Medical tests, though claiming to be almost 100% accurate, will never be 100% accurate. We can only make a calculated guess. Some of my friends had no problems with all the pre-natal tests available, but the child came out with a condition. On the other hand, many I know had worries after knowing their pre-natal test results, but they went ahead with the pregnancy with hope and the child was fine.

This thread is on Down syndrome - a topic close to my heart. I have a girl with Down syndrome, and if I were to do this all over again, I'll still choose to keep her. She is the sweetest child I know.

If you are interested to see my life as a parent of a child with DS, here are some:
http://simplylambchops.blogspot.sg/2013/02/im-thankful-for.html
http://simplylambchops.blogspot.sg/2014/10/october-is-down-syndrome-awareness-month.html
Thank u for ur sharing :)
 

aaa111

Active Member
Hi mummies

I just finished OSCAR and my overall risk is low and also all organs normal and nasal bone present. However, the NT measurement is very high (3.7mm), so the doctor asked for me to come for additional scan two weeks later. He said no need for CVS as overall risk is low so likely CVS cannot pick up anything.

He said it may be a genetic condition that is not down's syndrome, trisomy 18 etc. i am so stressed!!! Anyone in similar situation?

Thanks.
Hello mummy, when you feel stress about it, my recommendation is to look for another that you trust gynac for a 2nd opinion. Seeking 2nd opinion is patient rights and there is no need to feel anything for the original gynac. Any professional gynac will fully understand why patient sometime decide to seek 2nd opinion. If he/she decide to take it personally, my take is this gynac might be too junior to be able to help you further.

all the best
 

winleobee

Member
Hugs, Mommy Hi_Mei,
Can understand how you feel right now. Trisomy 18 is a very rare condition and I know of two families who have children with this diagnosis. The parenting journey is definitely not easy, but I see happiness and hope in these families.

Would like to add my two cents' worth. Medical tests, though claiming to be almost 100% accurate, will never be 100% accurate. We can only make a calculated guess. Some of my friends had no problems with all the pre-natal tests available, but the child came out with a condition. On the other hand, many I know had worries after knowing their pre-natal test results, but they went ahead with the pregnancy with hope and the child was fine.

This thread is on Down syndrome - a topic close to my heart. I have a girl with Down syndrome, and if I were to do this all over again, I'll still choose to keep her. She is the sweetest child I know.

If you are interested to see my life as a parent of a child with DS, here are some:
http://simplylambchops.blogspot.sg/2013/02/im-thankful-for.html
http://simplylambchops.blogspot.sg/2014/10/october-is-down-syndrome-awareness-month.html
thank you for sharing.. God bless you & your baby.
 

hi_mei

Well-Known Member
Hello mummy, when you feel stress about it, my recommendation is to look for another that you trust gynac for a 2nd opinion. Seeking 2nd opinion is patient rights and there is no need to feel anything for the original gynac. Any professional gynac will fully understand why patient sometime decide to seek 2nd opinion. If he/she decide to take it personally, my take is this gynac might be too junior to be able to help you further.

all the best
Thank u dear... I am gonna seek 2nd opinion with genetic scan. By luck, the doctor who did the oscar scan for me at kkh is a very experienced senior consultant. That's why I believe all his words and feel so stressed. Can only hope for the best. Even if it turns out not to be a chromosome problem, it is also high chance of heart defect.
 

aaa111

Active Member
Thank u dear... I am gonna seek 2nd opinion with genetic scan. By luck, the doctor who did the oscar scan for me at kkh is a very experienced senior consultant. That's why I believe all his words and feel so stressed. Can only hope for the best. Even if it turns out not to be a chromosome problem, it is also high chance of heart defect.
Hello, good to know the one who scan for you in kkh is very senior. you mention about genetic scan, there is one at camden medical center which is quite famous. i think if you do a quick google using key words like camden medical center and genetic scan, the address and clinic name will show up.

All the best.
 

Alicefm

New Member
Did my harmony test 2 weeks ago and being informed that has trisomy 13 risk is 97%. I cannot believe the probability is so high as my Husband and I are both with healthy and We are both 28 years old. I have scheduled my amniocentesis next month when my baby is 15 weeks. Our NT is 1.6mm and ultrasound is normal.
 

hi_mei

Well-Known Member
Did my harmony test 2 weeks ago and being informed that has trisomy 13 risk is 97%. I cannot believe the probability is so high as my Husband and I are both with healthy and We are both 28 years old. I have scheduled my amniocentesis next month when my baby is 15 weeks. Our NT is 1.6mm and ultrasound is normal.
Hi dear, harmony test is not diagnostic, hence u are gg for amnio to get the real result. Til then, there is nothing much u can do except hope...

I tried genetic scan with Prof ananda from Camden Medical. He can perform it from 13 wks plus. From the scan, he can clearly say whether ur baby has T13 or not... Maybe u want to try him. The scan is about $600, but at least u will know earlier rather than wait for 1 month. All the best.
 

Alicefm

New Member
Hi dear, harmony test is not diagnostic, hence u are gg for amnio to get the real result. Til then, there is nothing much u can do except hope...

I tried genetic scan with Prof ananda from Camden Medical. He can perform it from 13 wks plus. From the scan, he can clearly say whether ur baby has T13 or not... Maybe u want to try him. The scan is about $600, but at least u will know earlier rather than wait for 1 month. All the best.
Hi hi_mei

Thank you for your reconmendation. I went to prof Ananda's clinic yesterday. The scan is quite good. The only soft marker is my baby has short fifth fingers, but that is not the sign for Trisomy 13. He is positive which gives me so much hope. I did my amnio test with him yesterday also, FISH results will come tomorrow. I wish everything is normal.
 

hi_mei

Well-Known Member
Hi hi_mei

Thank you for your reconmendation. I went to prof Ananda's clinic yesterday. The scan is quite good. The only soft marker is my baby has short fifth fingers, but that is not the sign for Trisomy 13. He is positive which gives me so much hope. I did my amnio test with him yesterday also, FISH results will come tomorrow. I wish everything is normal.
Hi this is good to hear.
He seems very confident in amnio too.
All the best dear!
 

Quackquack29

New Member
My daughter's NT was 3.1mm and dr advice to take blood test to check.. odds were 1:1200 for DS. Next he suggested fetal anomaly scan at 20wks done by a consultant.. scan was done and no defects were detected.

Dr did not recommend for any other tests.. he said not necessary. Im 31 yrs old and this is my 2nd pregnancy.

As a mother and a gemini(lol), i cannot help but still think and stress myself on the 3.1mm NT.. but my dr was very calm and said there are some cases of NT 4mm but baby turned out healthy.

Im at 32 weeks now. Wish and hope for the best :)
 
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My daughter's NT was 3.1mm and dr advice to take blood test to check.. odds were 1:1200 for DS. Next he suggested fetal anomaly scan at 20wks done by a consultant.. scan was done and no defects were detected.

Dr did not recommend for any other tests.. he said not necessary. Im 31 yrs old and this is my 2nd pregnancy.

As a mother and a gemini(lol), i cannot help but still think and stress myself on the 3.1mm NT.. but my dr was very calm and said there are some cases of NT 4mm but baby turned out healthy.

Im at 32 weeks now. Wish and hope for the best :)
Don't stress yourself too much. My test results was 1:25 (high risk of down syndrome). Went for the detailed test and results turned out fine.

Have a safe delivery.
 

Kutty2504

New Member
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,!
 

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