What NIPT tests did/would you opt for, and why?

[pinknsparkly]

Hi all,

I have been lucky beyond all belief to be able to fall pregnant and as a result am super paranoid about anything and everything going wrong (including the fact that, at 9.5 weeks pregnant with every symptom going, I am still partially convinced that I'm going to go for my first scan to be told I made it all up and was never pregnant!).

I am therefore reluctant to take any risks that I don't need to, and anxious to do everything "right". I am looking at having an NIPT screening done this weekend, for the increased accuracy and sensitivity, and to remove the potential need for an amnio. I'd like to go for this weekend in order to have had the first scan done before Christmas so we can tell family. Many of the companies offering the tests offer a number of tests beyond the three "standard" ones that the NHS would test for. Can I ask which of these tests you have (or would) opted for, and why? The sex chromosomes test seems to be offered as standard by most companies (which I have a good understanding of some of those conditions due to family members having them), and then it goes up to studying all chromosomes for abnormalities/microdeletions. I have been unable to find any helpful information as to the accuracy of these tests, and what an abnormal result would mean (and so what the chances would be of us considering a termination or not).

If it helps at all - I am 33, and my husband is 32.

I would strongly advise not to do anything other than the main three, Downs , Edwards and Pataus. Testing for the rarer conditions is not validated and has a very high error rate- often being no more accurate than guess work. The sex chromosomes is also highly debated due to the number of false positive results which cause a huge amount of unnecessary worry. If you do the expanded NIPT and get a “screen positive” result you then are faced with a huge dilemma, which is probably totally unnecessary. We had hoped that NIPT would reduce miscarriages secondary to invasive tests, as fewer would be needed. In fact many women now are facing decisions about having an invasive test because of what turns out to be a false positive invalidated screening test.
You will gather I feel pretty strongly about this!
I am a specialist in this area. I use the SAFE test (from St George’s) as it is processed at St George’s & the reliability is very good . They aim for a result within5 days in lab.
Please choose carefully where you have it done. Sonographers are great at scanning but few have the very detailed knowledge that is needed to discuss these tests fully or to talk through all the what ifs. Few will have any aftercare provision if you get a result which raises concern.
Happy for you to PM me if you want to

Thanks so much @Nanmumandmidwife, that's really helpful and what I was expecting the answer to be. I would have imagined that if providers were confident in their more unusual tests then their websites would be filled with details about how good and accurate the tests are, but instead there is just no information at all! I'm a scientist, and so found the lack of information suspicious and unnerving. The SAFE test is actually the test offered by my local NHS hospital (though the patient has to pay for this privately), I was mostly looking to have the test done by a private provider in order to have the associated scan done before Christmas.

Also, since you're a specialist in the area (sorry!), my family member who has a child with Kleinfelters knew the diagnosis prior to birth, and this was before NIPT testing was available (she had all of her care under the NHS, no private testing that I'm aware of). I assume that was an amnio sample result? That was what made me think that the sex chromosome testing was likely to be more accurate than all the other offered chromosome testing options.

There are a few places that offer SAFE in the private sector, but it is mostly available through NHS hospitals. I offer it as a home visit service as part of specialist midwifery care.
Just something to consider- I understand your wish to tell people at Christmas, but the 12 week scan is for very good reasons and so it would be worth considering if the time to tell is after that. There is obviously never a time you can be sure that everything is going to be ok, but by 12 weeks the chance of miscarriage is hugely reduced and the scan can confirm that basic structures such as the skull, abdominal wall etc are all normally developed. The time from 10-12 weeks makes a big difference in confidence and completeness of the scan. Also the measurement of the nuchal translucency needs to be done very close to 12 weeks to have predictive value (chromosomal issues or cardiac issues). Something to consider.
Yes, your relative must have had an invasive test.
Happy to discuss any details by PM if it would help
Good luck

Thanks very much Nan, that's a lot of information for me to think about and digest, I really appreciate your insight and opinions. I hadn't thought about how much changes in terms of what is visible on the scans between 10 and 12 weeks - I'd been thinking only about the fact that if there's a baby with a visible heartbeat at 10 weeks then the risk of miscarriage is reduced.

I had the harmony test and had a high risk (33%) of triple x syndrome. The female version of kleinfelters i think. Lots of worry etc but our daughter was chromsomally normal. Have read lots of research since and read about huge amount of false positives. It really ruined my pregnancy and in reality the only disorders I was really interested in were the incompatible with life ones so I should have only requested Edwards and Patau.

Best of luck with your pregnancy

@Bluefargo not enough people are aware of this. Several companies have recently been taken to task by the advertising standards authority because of issues like this.

@Nanmumandmidwife do you mind if I ask you a question ... I am currently 6 weeks pregnant after a TFMR for T21 in July. I want to have the NIPT done this time round as soon as possible so that ideally I have the results before my 12 week scan - it was too horrible an experience last time to repeat. But I cannot have the NIPT done through my hospital so need to pay for it privately. Do you have any recommendations for which companies are more reputable than others?

Sorry for hijacking your thread pinknsparkly!

Thanks @BlueFargo - I was having exactly that conversation last night. Essentially it boils down to figuring out what disorders would be deal breakers for us. If we wouldn't terminate for it then I don't think we should test. I'm a worrier like you so, whilst the logical part of my brain thinks that at least knowing would enable me to be prepared, the reality is that I'd probably spend the entirety of the pregnancy very stressed and worried about something completely out of my control that may be a false positive anyway!

No problem @DinoGreen! Our hospital uses the SAFE test by St George's Hospital. We can pay to have it done privately through our local hospital or through a number of local hospitals (all paid for privately). I believe our community midwife/homebirthing team also offer it (again it's a private service). The SAFE website lists NHS hospitals that offer it, I'd maybe start there. Good luck!

@DinoGreen another supporter of the SAFE test here! Unlike most of the test suppliers, the SAFE team are very particular about who offered their test and only supply practitioners who have had specific training etc. They are leading the way with providing training for professional staff. As Pink says, there is a list of places that can do SAFE on the St George’s website - google St George’s SAFE test
It is very important to me that it is done in a lab that is under NHS control and quality assurance etc. As a professional providing SAFE tests I can always access their specialists to discuss specific situations or results etc. As this evolving science there are always new things to consider.
If SAFE isn’t available in your area do message me & I can have a look at alternatives for you.
Wishing you well.

Thank you both. Unfortunately it looks like the SAFE test isn’t available anywhere near me. I live near Reading so not too far from London, I could travel into London for it I guess. The only place I can find that offers it in Reading is a small clinic (Ultrasound Direct) that mainly seems to do private scans.

On the St George’s list Walking With You offers home visit service in Surrey & Sussex. You are not far from the Surrey border. Definitely worth asking!