High risk for Digeorge

[rainbowfaith]

Hi, I just received my Panorama test results. Everything was low risk except the Microdeletion 22q11.2 (digeorge) was high risk. My gynae told me that there's a high possibility of false positive for this portion of the test. Was advice to go for cvs or amniocentesis if I wana be 100% sure. At a loss of what to do now.... not much info about this locally.

 

[hippo78]

Hi , did your gynae explain to you if T13, T18, and T21 are all low risk, does it mean your baby should be clear of DS ?
If you really want to do another verification, amnio is a better option than CVS.

I used to take Harmony test for my last pregnancy, but it doesn't include this particular test condition
for Microdeletion 22q11.2 (Digeorge). Harmony test only test for T13, T18, and T21. And my baby turn out normal.

This time , my gynae suggest to take Panorama test, because it is $200 cheaper than Harmony test.
And he said it both yields 99% accuracy.
Now I am in a dilemma whether to take Parorama or Harmony test.

 

[rainbowfaith]

Hi, my gynae says that for T13, T18 and T21 the accuracy is 99% accurate. My baby is clear of DS.

The only part with possible false positive is the newly added Microdeletion part.

If i know of this part i might opt out of Panorama.

 

[hippo78]

I ask my gynae , and yes he mentioned that the microdeletion 22q11.2 is a new test condition.
So in the end I went for Panorama test on Mon. They drew 2 tubes of blood.
Results will be out in probably 2 weeks time.
Hopefully everything will be fine.

 

[hippo78]

My Panorama results is out in just 10days! Low risk for all conditions. And I am expecting a baby girl.

 

[piggy_tee]

Hi, my gynae says that for T13, T18 and T21 the accuracy is 99% accurate. My baby is clear of DS.

The only part with possible false positive is the newly added Microdeletion part.

If i know of this part i might opt out of Panorama.

Hi,

I received the same test result, high possibility in microdeletion test- DiGeorge syndrome. I am so worried and loss right now. Did you take the amnio test?

Thanks.

 

[DontStop]

Hi,

I received the same test result, high possibility in microdeletion test- DiGeorge syndrome. I am so worried and loss right now. Did you take the amnio test?

Thanks.

Hi, similar thing happened to me a few months ago. I did Harmony test, but the test results came back two times inconclusive. So my gynae believed this happened because my baby was abnormal and advised me to do amnio test at wk 16 which I refused. I went to see Doctor Ananda at SSR for a detailed scan in week 19, he saw some problems with the baby's heart and a VSD, and suspected this might be caused by DiGeorge syndrome.

The only way to find out is to take an amnio test and must include a specific FISH for DiGeorge. I did it at his lab because Dr Ananda seems to be very confident with his amnio skills. It cost me about $3k!

2 weeks later the results came back all cleared. I went for another detailed scan in wk 23. The VSD is still there, but it's getting smaller so high chance it will close on its own. Was advise by Dr Ananda to see a heart specialist when the baby is 3 months old. BTW I am currently in my week 27.

Hope the above helps. I lost my sleep and appetite the moment my Harmony test went wrong from wk 15 so I know you must be anxious to find help.

 

[whale-shark]

Hi,

I received the same test result, high possibility in microdeletion test- DiGeorge syndrome. I am so worried and loss right now. Did you take the amnio test?

Thanks.

Hi @piggy_tee, did you do a follow up for digeorge? Tks