NIPT testing

[Rockyslife]

Hello,

I am 27 and have had three miscarriages within the space of 8 months, the last baby was sent off for genetics testing which came back that the baby had chromosomal issues and had triploidy. The consultant reassured me that this was the baby's genetics and not ours and would have been down to the conception of the baby not being correct and our chances of the same issue happening again would be very low. Me & my husband have been trying to conceive for three years, this baby is so desperately wanted & I have never reached 10 weeks before.

We have found out about the NIPT testing which I could have from this week, but part of me wants to hope that this pregnancy is ok, my body isn't telling me there is anything wrong and to try and enjoy it as I have always had spotting, cramps and alot of trauma in the previous pregnancies. I really don't know what to do.

The midwife has said that it can take a week or two for your low/high risk results to come back which would leave me at 14 weeks, and that petrifies me more the thought of there being something wrong further down the line. If I have the test it'll either help reassure or it'll break my heart but either way the outcome will happen of what is written in the stars.

I am very confused, and don't want to cause anymore fear and stress to my life, but then would it reassure me and help?

Any advice would be so appreciated as this is all new to me. x

Hi Rockyslife, sorry you are going through this. I have had the Harmony test twice during pregnancy and found it to be quite efficient, I think results were back in about a week or so. It’s a simple blood test so not invasive at all. I found it quite reassuring, and I’d had two miscarriages previously although I don’t know if these were due to genetic issues.

If you are 13 weeks at the moment, it is worth thinking about what the least stressful option would be - an early NIPT or waiting until your anomaly scan?

Hoping all goes well for you x

@PoodlyOodly Thank you for your message, its reassuring to know that you found it helpful and it was done with no added stress. I am 10 weeks, so another 11 days until my dating scan. Which I know they only look for three gentic issues, downs, edwards syndrome and one other which I can't remember. I guess I am used to bad news and luck, I am expecting the same with these bloods, but I guess it would be better to know sooner rather than in 6 weeks time.

I had it done and it would highly recommend it.

I had it done in my next pregnancy after having a miscarriage where the baby was confirmed to have Patau's. I would recommend it, results didn't take long at all and provided some extra reassurance.

I'm sorry for your previous losses and understand you must be feeling so anxious.
I decided to have the NIPT a couple of weeks ago actually, despite having a completely normal NT measurement and low risk from the NHS combined screening. My reasons were purely because I'm really anxious this time round, I have two other children and this is the first pregnancy in my 30's (even though I'm only 32!) anyway, I had got myself into a state over the NHS combined screening being wrong and I'd end up with a post natal diagnosis. I decided to pay for the NIPT privately at 16 weeks and I've just had my results through today and all is fine. I would definitely have it done again because it's made me feel so much better. If you can afford it then do it because it's 99% accurate where NHS is 85% I believe.

The NIPT generally only looks at the 3 genetic conditions Down Syndrome, Edward Syndrome and Patau Syndrome....the same as the combined testing which is the routine testing at 13-14 weeks. It's just that the NIPT is more accurate. The NIPT can also tell you the sex of the baby.

I practice in Australia and we have some NIPT providers which can look for further genetic anomalies (22q deletion is the common one but some do wider exome testing) but they aren't as accurate. Not sure if this is an option in the UK though.

Sorry you’re going through this. I had the NIPT advanced test for the main abnormalities and lots of other chromosomal issues. I didn’t want to wait for the NHS test which are less accurate as I just didn’t want the stress and would want to be able to make a quick decision if there was something wrong with the baby that was unsurvivable.
Id definitely recommend getting it if you want to rule out the same issues you had last time xx good luck!