Reply
 
LinkBack Thread Tools Search this Thread
Old Nov 26th, 2013, 14:12 PM   21
chulie
Mum (Mom)
Chat Happy BnB Member
 
Join Date: Dec 2012
Posts: 1,517
I would try and get some better answers before proceeding with the Materni/T1 bloods. A lady I work with had high odds so she was offered that test first...but from what she told me, it wasn't a "yes or no"....it just gave you odds...so even if they were still high she would still have to go through with the Amnio (CVS)......so she opted just for the amnio because it was a definite yes or no.

I'm so sorry your going through this....my advice would be to do whatever testing you feel will prepare you for the next stage. For me, I would have the amnio done...not to terminate...but just to prepare...so that the birth is not marred by "what if's"...or fear of "how does my baby look?".....Good luck to you!



 
Status: Offline
 
Old Nov 26th, 2013, 20:50 PM   22
Disneybaby26
Mum (Mom)
Chat Happy BnB Member
 
 
Join Date: Jan 2013
Posts: 1,807
Best wishes for you and your little one mama!

The blood tests (MaterniT21, Harmony etc...are NOT diagnostic and simply based off mathematic algorithms. If these tests come back positive, women are urged to have an invasive procedure, such as amniocentesis to confirm results.



 
Status: Offline
 
Old Nov 26th, 2013, 22:10 PM   23
mummy2o
Mum (Mom)
Chat Happy BnB Member
 
 
Join Date: Aug 2012
Posts: 2,366
As you probably have already mentioned its just the shock as you never think its going to happen to you, until it does. Your husband and you seem very set on having this kid regardless if it has DS or not. The midwife asked me if you don't mind have a child with DS why are you having the NT test. I said to be prepared for what was to come. If you want more tests then great. As others have said you can pay for Harmony and your blood gets sent off and analysed. Its also fine if you don't want any more tests.

You have both been around people with disabilities and you know it won't always be a walk in the park, then again raising any child is. You will have good days and bad days. But every little reward is worth it. My son is now 6 and has autism, a week ago he said he loved me for the first time. I couldn't have been prouder of him. So he probably won't be the next prime minister or be a doctor, solicitor etc, but that's fine. He's perfect the way he is and I wouldn't change him for all the money in the world.

Talk to your husband and decided what's best for you, not what we would do as at the end of the day its your pregnancy and your baby, not ours.



 
Status: Online
 
Old Nov 26th, 2013, 23:13 PM   24
HBGirl
Mum (Mom)
Chat Happy BnB Member
 
 
Join Date: Apr 2013
Posts: 1,784
I had low PAPP-A and an NT of 3.4mm. Combined with my age and my daughters SUA it gave us a 1 in 20 chance of trisomy 13. I opted for the cvs and she is clear. Our 20 week scan showed a perfectly formed, normal baby dancing around in there.



 
Status: Offline
 
Old Nov 27th, 2013, 03:10 AM   25
Sunnie1984
Trying to conceive (TTC)
Active BnB Member
 
 
Join Date: Oct 2011
Posts: 890
I had the NT scan done, not for DS necessarily, but because Trisomy 13 is seriously lethal, and I wanted to know before I announced my pregnancy.

I had high HCG and low PAPP A results. Normal NT measurement. I'm 29 years old. The baby had a high heart rate and I got a 1:43 risk for Trisomy 13.

I had a version of the Harmony test. I'm in the middle east so the bloods were sent to the lab in the USA (they don't have a specific lab here for that yet).

The blood test I had looked for the babies DNA in my blood sample.

Apparently once the placenta attaches, at about 10 weeks, you carry some of the babies DNA in your blood.

DH did a mouth swab, so they could compare his DNA with what they thought was the babies (to check for a partial match with his DNA, as baby is 50% his DNA).

They then check the babies DNA to look for the conditions. In your case they would look at chromosome 21 and see if there was two copies (as there should be) or three copies (which is DS).

The test is 99% accurate. The reason for this is that sometimes you can be DS but only some of your DNA has three copies of chromosome 21.

So the ones they tested could be negative, but there is a tiny tiny chance that your baby has this really really really rare DS that can be missed during this test.

I think it's more about the not knowing that is a killer, not necessarily that you'd jump straight to abortion. We all worry about our babies every day, and it gets so much worse when there might be a problem.

The test is expensive, but we chose to do it before an Amnio. If the test had come back positive then we'd have had the amnio to be 100% sure (but that was because we were looking at trisomy 13, which has only a 10% chance of your baby making it to birth).

Sorry for rambling, but I hope that helps.

I know how you feel, and how difficult this decision is.

x



 
Status: Offline
 
Old Nov 27th, 2013, 03:26 AM   26
shiseru
Mum (Mom)
Active BnB Member
 
 
Join Date: Aug 2010
Location: Singapore
Posts: 373
I had the prenatal Harmony BT when I was 10 weeks pregnant, this is similar to Maternal T21.

This is a new, safe, highly accurate, and affordable non-invasive DNA test that detects common fetal trisomies as early as 10 weeks with a simple blood draw. Most of them had the test done instead of an amnio/CVS after a positive integrated screening.

You can ask your midwife if the hospital offers it?



 
Status: Offline
 
Old Nov 27th, 2013, 05:12 AM   27
viccat
Pregnant (Expecting)
Active BnB Member
 
 
Join Date: Apr 2012
Location: UK
Posts: 541
Okay - I have my blood test measurements. HCG is 5.66 and papp-a is 0.32. Definitely explains the 1:5 risk rating.

I am going in tomorrow for the CVS test, and will get definitive results next week.



 
Status: Offline
 
Old Nov 27th, 2013, 07:24 AM   28
musicjunkiee
Mum (Mom)
Active BnB Member
 
Join Date: Oct 2012
Posts: 836
I want you to know though that even the amnio is NOT 100% accurate. I have a friend who was told her baby would have DS and was perfectly fine, and I also know a lady who has a DS daughter who had the amnio and was told she wouldnt.

Yes, that is very rare but it still wouldnt tell you definitively xx



Status: Offline
 
Old Nov 27th, 2013, 11:41 AM   29
Disneybaby26
Mum (Mom)
Chat Happy BnB Member
 
 
Join Date: Jan 2013
Posts: 1,807
Quote:
Originally Posted by musicjunkiee View Post
I want you to know though that even the amnio is NOT 100% accurate. I have a friend who was told her baby would have DS and was perfectly fine, and I also know a lady who has a DS daughter who had the amnio and was told she wouldnt.

Yes, that is very rare but it still wouldnt tell you definitively xx
This is misinformation unfortunately. Im a prental geneticist and process and anaylze cvs and amniotic fluid samples for a living. When amniotic fluid and chorionic villi are tested a karyotype of the baby's chromosomes is analyzed and either the baby has three copies of chromosome 21 or not. Yes, there are cases of mosaic trisomy 21 that may be missed, but this is not full blown Down syndrome. The only way you would get a negative result and end up with a trisomy 21 baby would be doctor or laboratory error. Amniocentesis and chorionic villus sampling are absolutely diagnostic.


Good luck tomorrow!

Edited to add that even in cases of mosaicism, a Flouresence in-situ hybridization (FISH) test is done in tandem with chromosmal study for chromosomes 13,18,21 and the sex chromosomes. This testing would pick up mosaicism and prompt further study of the amino or cvs sample. The FISH is a separate test and would have to be ordered by the physician in conjunction with the CVS or amnio. Preliminary results of FISH testing can have a turn around time of as little as 1 day.

Also, "down syndrome" is often confused with mental deficiency. There are thousands if not millions of defects that can occur in DNA that would be impossible to see microscopically. A "normal" amnio or cvs cannot guarantee that your child will not have mental deficiency or other syndromes that can't be seen microscopically. For this, the doctor can order microarray trying that may uncover certain elusive abnormalities, unable to be detected microscopically.



 
Status: Offline
 
Old Nov 27th, 2013, 16:03 PM   30
Rachie004
Pregnant (Expecting)
Chat Happy BnB Member
 
Join Date: Jan 2013
Location: UK
Posts: 1,948
Hi viccat,

I can't imagine how difficult this must be for you and I wish I had the words to make it better Good luck for tomorrow, will be thinking of you xx



 
Status: Offline
 
Reply



Bookmarks

Tags
baby , chance , downs , ds , high , risk , syndrome

featured articles


Thread Tools Search this Thread
Search this Thread:

Advanced Search






SEO by vBSEO