is amniocentesis necessary after PGD

[annec]

or are the new blood tests available reliable enough to be able to forego the invasive testing procedures?

I am thinking that - besides my horror of needles, and i will see enough while on stims - i would rather not add a risk of miscarriage etc. although i think mostly i just don't want to undergo that experience of the needle through my bump.

are the new blood tests as reliable?

thanks

[Dr. Potter]

or are the new blood tests available reliable enough to be able to forego the invasive testing procedures?

I am thinking that - besides my horror of needles, and i will see enough while on stims - i would rather not add a risk of miscarriage etc. although i think mostly i just don't want to undergo that experience of the needle through my bump.

are the new blood tests as reliable?

thanks

It depends on which PGD technology you are using. I do not recommend that my patients have amniocentesis or CVS except in rare circumstances. I recommend that my patients have non-invasive testing such as Panorama (Natera) and the triple marker screen/Nuchal translucency ultrasound; At Natera, we offer Panorama, a simple blood test that can be done as early as 9 weeks. It detects and analyzes the free-floating fetal DNA found in the peripheral blood of all pregnant women. It will detect abnormalities of chromosome number for chromosomes 21,13,18 X and Y. You can also get gender confirmation and paternity confirmation using Panorama. You can get more information on Panorama here: Panorama Prenatal Test: Comprehensive, Accurate and Non-Invasive Prenatal Testing

[annec]

thank you for the reply. they have a blood test available here (in Switzerland) as well, and I would much rather use that than an invasive procedure. It's called PrenaTest. do you know if this can detect all the same things as Panorama?

[queen-bee]

This is the question I was meaning to ask months ago. My NT scan results came back with increased risk of DS (1 in 330) because of the blood component. They don't do any of the fancy new blood tests here in Australia and I didn't want to risk this precious pregnancy by doing amnio. At 20 weeks scan I was told that the baby looks perfectly healthy and that this reduces the risk of DS further because usually DS babies have heart and other problems. I did gsn testing, so really hoping this baby is indeed free from any genetic abnormalities. My logic for not doing amnio testing was that I trust gsn (Natera) testing more than the old fashioned blood test which is a part of NT scan procedure.

[vickyaust]

This is the question I was meaning to ask months ago. My NT scan results came back with increased risk of DS (1 in 330) because of the blood component. They don't do any of the fancy new blood tests here in Australia and I didn't want to risk this precious pregnancy by doing amnio. At 20 weeks scan I was told that the baby looks perfectly healthy and that this reduces the risk of DS further because usually DS babies have heart and other problems. I did gsn testing, so really hoping this baby is indeed free from any genetic abnormalities. My logic for not doing amnio testing was that I trust gsn (Natera) testing more than the old fashioned blood test which is a part of NT scan procedure.

I totally agree with you queen-bee.
I just got a 1:311 risk mainly due to age, 38.
Given I did PGD I think its valid not doing invasive testing.

BTW, in Melbourne the Monash Ultrasound group offer the Harmony blood test for $850. It takes two weeks for results but is 99% for downs.

[queen-bee]

Thanks Vicky, I wish I knew about the test earlier but my OB never mentioned it. I feel we will be alright though. I may be wrong, but the way I look at it is that we've already done a test, similar to amnio or CVS in it's accuracy, but before the implantation. I guess you can add at least another 100 to make your odds 1:411 knowing that you did pgd and this will place you in a low risk group.

[annec]

it is strange how doctors in general - at least around here - don't freely offer the latest technologies but prefer the invasive stuff.
in any case, i have decided (although not yet even cycling) that there is no way a needle is penetrating my tummy and risking an HT pregnancy. as you've said, we do testing before the implantation and that in itself greatly reduces the risk so i hope my GYN will be willing to use the blood test - although i see no reason why now, seeing i will have to pay for it myself

[vickyaust]

I think the Harmony blood test is very new in Australia. My scan doc told me it would cost $2000, only after I googled it and called did I get the real $850 cost.

The genetic councillor who does the Harmony test was awesome. She really talked me out of it given I had 24 chromosome PGD. I see my Ob on Thursday so will ask his opinion too.

My DH a furious with me for being slightly worried about downs. He doesn't get sacred by the downs pt Dr Potter said HRC had with aCGH. But it's all I can think about!

I do wonder if IVF effects the blood results for the risk score? My previous pregnancies I got:
In 2008 it was 1:14000
In 2010 it was 1:4800

I am 38.5 now so guess tats why the change. My age risk is 1:98 so to up it to 1:311 is better.

Still scary after going through so so much for this bub.

[queen-bee]

Vicky, my husband wasn't much help either when I was obsessing about downs risk. He's sure there is no reason to worry about iti. My OB is not at all concerned either. My age gives me 1:400, scan measurements were perfect, it's the blood component that wasn't good. In my previous pregnancies risk was very low, similar to yours. I did read that ivf pregnancies, especially if you had bleeding early on affect blood test results. Did you check if the bub has nasal bone? I know at least two people irl who were given 1:100 or higher and ended up having perfect babies (both had girls).
I didn't know about aCGH downs baby, what a tragedy.