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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

NIPT for sex chromosome abnormalities?

5 replies

ai38 · 31/05/2023 22:01

First time pregnant here at 38 and worried about chromosome abnormalities because of my age.

I have booked a private NIPT for Friday at 11+4. However, I find it difficult to choose between Harmony test (basic test screening for T13, T18 and T21) and Panorama (the option to screen for Turner syndrome and other sex chromosome abnormalities in addition to the basic test).

On one hand, I'd like to get as much information as possible about the baby as chromosome abnormalities will be a determining factor for me in deciding to continue the pregnancy or not. But I also know that the rate of false positive for these conditions is higher and the result might cause a lot of unnecessary stress and the possibility of having to do an invasive diagnostic test later on.

Just writing to see if anyone here has had to make a similar decision and if so, what helped you to opt in/opt out of screening for other conditions than the trisomies?

Or if you are currently making the decision, will you go for the extended panel test despite knowing that the results are not as accurate as for T13, T18 and T21?

OP posts:
PointyMcguire · 31/05/2023 22:08

We had the Harmony test and were given the option to screen for sex chromosome abnormalities but opted not to as like you say the rate of false positives meant it was only ever likely to heighten my anxiety. DD is now 5 months old and absolutely perfect, so it worked out ok for us.

longstayer · 31/05/2023 22:15

Sex chromosome differences such as Turner's and Klinefelter's syndrome are not conditions I would think about termination Add in the lower accuracy and I don't really understand why this wider testing is offered.

LysHastighed · 31/05/2023 22:16

We got the Panorama to include all the conditions possible. As it’s not diagnostic the lower rates didn’t concern me (compared with the tests available pre-NIPT the rates really aren’t bad though); I’m not inclined to worry or stress so that wasn’t a consideration. I guess the stress of having an affected child would be greater. The test came back with the lowest possible score and the baby was fine.

ai38 · 31/05/2023 22:49

Thanks for your replies. Does anyone know that if the private NIPT comes back high risk for sex chromosome abnormalities, will it be possible to do amnio through NHS? or do they only cover T13, T18 and T21 high risks?

OP posts:
Math22 · 25/01/2024 04:16

I am so glad you asked this original question so thank you @ai38
I am too undecided which test to go for, I feel they shouldn’t offer so many options and there be one NIPT test offer only to avoid confusion and pressure.
There are a few NIPT tests on offer near to me (45 mins away!) which is the Illumina VeriSeq v2 NIPT (which replaced Harmony). IONA or the Paranorma! I am trying to do my research but it’s adding to the stress as some offer more testing but then reading the more you test for can lower the rates! Can anyone advise if they have had any professional advice of which test to go for / is possibly better than the other?

also @ai38 which did you go for in the end? Xxxx

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