Doctor Error - Unnecessary CVS - Anomaly found (trisomy 13)

[BabyOnBoard90]

Hi all,

I posted couple days ago here that an administrative error occurred during our 12week scan, which ultimately led to Chorionic Villus Sample test being carried out.

Initially they suggested that there was a 1 in 2 chance of down syndrome, and after the error was identified, risk went down to 1 in 5000, and in 1 in 20,000 for other anomalies.

It's worth highlight the fetal anatomy checks all came back normal. Nuchal Translucency was 1.6mm so within normal ranges.

Doctors were very apologetic about the error, but we were still considering complaining as initially we felt an invasive procedure that increased risk of miscarriage was done for no reason.

Yesterday the doctor called again advising trisomy 13 had been found in the placental DNA. She stressed the scans looked completely normal, so it's possible that this is just the placenta. I've done extensive research, and while this is possible - it's quite rare. So now it appears we have a baby that scanned as normal, who mistakenly had a CVS and has tested positive for 1 in 20000 anomaly.

Needless to say partner and I are distraught and devastated. Not sure what I'm hoping to get, perhaps insight or advice from anyone who may have been in a similar position or heard of a similar case.

Hi there, I heard a story about trisomy 13 in the placenta on a podcast recently. The podcast is called Australian Birth Stories and it was episode 251.

I work for the NHS and would, in your shoes, make a complaint if only to better understand what happened. You could ask for extra scans or a conversation with a different doctor for example. You might not get it but it’s an opportunity to ask and they should explain how the mistake was made.

Can you get a private NIPT test? I am not medical to understand exactly what your situation is.

I really feel for you and am sorry this is happening.

I think you should complain. You have been caused a huge amount of stress and worry. And now you're still stressed over this latest test result. I agree with getting a private test if you can.

So if they say it's possible it's just the placenta...is it also possible it's not just the placenta? Have they discussed an amnio?

Im so sorry to read your update. I’m not sure that I’d complain if it had turned out that the CVS was completely warranted, despite the errors leading to it. Unless you would choose to have the baby either way (I’m guessing not or you’d have declined the cvs)? Would you/could you have another test - an amniocentesis for example? I’ve no idea if these are more or less accurate than the cvs… but a second opinion might be good? I have read that the 1:200 risk of miscarriage from these tests is likely overstated as the ratio has been the same since the 80s despite medical techniques improving so although it will be unpleasant for you, you might get the answers. Wishing you the best either way.

The thing with the Nuchal tests is that there is an element of subjectivity in them and timings can also play a part in the result. Interpreting scans is as much of an art as it is a science.

As with T13/Patau there is a very high risk of heart defects and neurological growth I would be pushing for a new batch of scans asap. The fatality rate for term T13 babies is around 92% within the first year and that is with very aggressive surgery in the first few days and weeks after birth.

I agree with previous posters, you should complain, not necessarily because they have done something wrong, but because they can use that as leverage to fast track you on scans and additional tests and I also agree with previous posters that if you have the option of going private you may want to to accelerate the process.

You will then hopefully be in possession of more of the facts which will allow you to make an informed decision about what you want to do.

Good lord OP this just sounds like an incredibly difficult and distressing situation. I understand why they called you to give you their findings ASAP but that’s just not good enough in this situation. I’d be asking for a follow up meeting with a consultant OB and a consultant geneticist.

I don’t have any experience of this particular issue but have experience re a rare genetic disorder and had discussions with a geneticist re testing both before and during a subsequent pregnancy. They can explain more clearly re the risks and what further testing might be available. I wouldn’t rush off to do a private NIPT as my understanding is it is not a diagnostic test. Also the NHS can do those tests in some circumstances. I hope you are able to get some answers sooner rather than later.

They might also be able to do additional scans to look at particular things potentially associated with this trisomy.

Have you been refered to fetal medicine OP?

As tempting as it is to complain right now, you're on a diagnostic pathway and you need to follow this to its conclusion, for the sake of your baby and your own reassurance.
So basically, the CVS did result in a diagnosis, which is traumatic for you. And it sounds like you've been through the mill emotionally and physically. I think this warrants a complaint, but first things first. Get to the bottom of this diagnosis and the next stages.
I have been in your shoes twice and it is traumatic and difficult. Please take time to get the right answers and process the situation. Complaining right now might add more pressure and reduce the focus you need in order to get through this.

Thank you all for supportive messages.

@pjani I will check the podcast out and consider having NIPT test. Disconcerting thing is that CVS is supposed to be near 100% accurate i.e. more so than NIPT

@CovidCorvid There's a possibility this could be just the placenta, but that's quite rare (1% of CVS tested) based on my research. I suspect we will be offered amnio later down the line but that hasn't been mentioned yet, just a scan in two (long) weeks to observe growth).

@Pamparam yes I'm torn as, while they initially made an error, they have found an anomaly that potentially would have brought heartbreak later down the line. I think Amnio is slightly more conclusive as DNA derives directly from fetus, but CVS is almost 100% accurate also (they advised).

@HeyFloof Not yet, but we have an appointment in a couple weeks with same Obs.

@TheVanguardSix Thanks for that advice, helpful to hear from someone who has been in a similar boat.

They were supposed to call today to confirm next appointment but we called to move things along. Turns out an appointment had already been booked for Tuesday 16th Nov (why we weren't told this, I don't know). They will scan for baby growth amongst other things I imagine.

Confined placental mosaicism can occur, and sometimes babies can be mosaic for genetic abnormalities (where some cells are affected but others aren't). CVS only checks cells from the placenta, so although it can tell you with accuracy about the cells in the placenta, that's not necessarily going to be the same as the baby's cells. Amniocentesis is more reliable for finding out about what's happening with the baby's cells.

Given the chaos and distress you've been put through already, it might be worth asking for referral to a foetal medicine specialist unit, for repeat scans and/or second opinions on the results so far, and consideration of whether amniocentesis could be helpful for you.

@Scirocco

Confined placental mosaicism can occur, and sometimes babies can be mosaic for genetic abnormalities (where some cells are affected but others aren't). CVS only checks cells from the placenta, so although it can tell you with accuracy about the cells in the placenta, that's not necessarily going to be the same as the baby's cells. Amniocentesis is more reliable for finding out about what's happening with the baby's cells.

Given the chaos and distress you've been put through already, it might be worth asking for referral to a foetal medicine specialist unit, for repeat scans and/or second opinions on the results so far, and consideration of whether amniocentesis could be helpful for you.

This is basically what I was going to say. You need an amnio to see what's going on.

And whilst it's been distressing, it is better to be in the system and aware and being looked after at 12 weeks, than to have a shock at the anomaly scan.

Wishing you well

@Scirocco

Confined placental mosaicism can occur, and sometimes babies can be mosaic for genetic abnormalities (where some cells are affected but others aren't). CVS only checks cells from the placenta, so although it can tell you with accuracy about the cells in the placenta, that's not necessarily going to be the same as the baby's cells. Amniocentesis is more reliable for finding out about what's happening with the baby's cells.

Given the chaos and distress you've been put through already, it might be worth asking for referral to a foetal medicine specialist unit, for repeat scans and/or second opinions on the results so far, and consideration of whether amniocentesis could be helpful for you.

Agreed, we will seek to have an Amnio as well and go from there, or at very least a NIPT.

I should have said, we were technically 12w5days from last period, but based on scan measurements gestation was revised to 13Wks6Ds - so growth is quite strong so far.

So sorry you are going through this. Please be cautious about NIPT, as this will only detect fetal cells from the placenta, so if it is the case that it is mosaicism and cells limited to placenta you could get the same result as the CVS.

There are some good posts on Redit about NIPT and these issues. My understanding is in an older mum, the trisomy is more often in the egg, so all cells will be affected (baby and placenta). With younger women the trisomy may occur early in embryo development and only one cell affected, and this get 'sorted' to the outside of the embryo and can then form the placenta and baby is made from normal cells. This is what a read on the redit forum, which seen well sourced.

I think what others have said about additional scans, genetic counselling and amniocentesis would be what i would do.

So so sorry you are going through this - this must be agony. Hope you get full answers soon.

When I did the NIPT here in the Netherlands I was told that if there were cells detected that they may be baby or placenta and further tests would be needed first. So this must occur with some regularity. It's a terrible situation to be in and I wish you and your partner all the best during this difficult time. I wanted to point out that the CVS research you are looking at may not be as applicable to your situation. As women are referred to do these kind of test after scan (or blood) anomalies are found, research would show that it is indeed less likely to be just cells from the placenta. The cells would be more likely to be the baby because there is already a cause for concern. If all women would do this test on a standard basis- it might be that it could be more likely for women to have abnormal cells that only affect the placenta and not the baby. In this case it wouldn't be just 1% but a much higher percentage. Of course this kind of research couldn't be done because it would risks miscarriages in otherwise healthy looking pregnancies. In the same way that you have undergone the procedure without a real reason. In this sense it is really important that the baby has scanned without concerns and there is an increased chance (definitely more that 1%) that the cells are only in the placenta. I hope I'm making sense. X

@Matilda128

When I did the NIPT here in the Netherlands I was told that if there were cells detected that they may be baby or placenta and further tests would be needed first. So this must occur with some regularity. It's a terrible situation to be in and I wish you and your partner all the best during this difficult time. I wanted to point out that the CVS research you are looking at may not be as applicable to your situation. As women are referred to do these kind of test after scan (or blood) anomalies are found, research would show that it is indeed less likely to be just cells from the placenta. The cells would be more likely to be the baby because there is already a cause for concern. If all women would do this test on a standard basis- it might be that it could be more likely for women to have abnormal cells that only affect the placenta and not the baby. In this case it wouldn't be just 1% but a much higher percentage. Of course this kind of research couldn't be done because it would risks miscarriages in otherwise healthy looking pregnancies. In the same way that you have undergone the procedure without a real reason. In this sense it is really important that the baby has scanned without concerns and there is an increased chance (definitely more that 1%) that the cells are only in the placenta. I hope I'm making sense. X

Yes this makes total sense, and I think this primarily why we feel so much confusion, and cautious hope. Ultimately there was no reason for us to have CVS, and that does complicate the context. We'll have to see.

@Katy4321 thanks for sharing that. I should add mother is 28, no spring chicken, but more on the young side.

I'm happy to hear you have cautious hope. Ultimately their is no research relevant to you as this is such a bizarre and confusing situation. I'm sure even the doctors will not be sure at this point-except that your scan looks good. Hang in there!

Hi @BabyOnBoard90

I'm sorry you're going through this tough time.
www.irishexaminer.com/news/courtandcrime/arid-40316513.html
In the above case, it was Trisomy 18 but both the NIPT testing and CVS suggested a positive for Trisomy 18 while scans did not suggest any abnormalities.
The woman had a termination it was later revealed to be a case of 'confined placental mosaicism' and their son had been perfectly
healthy.

I was aware of this case and made me nervous about NIPT but if NIPT had shown high risk I would have only agreed to Amniocenteis and not CVS as I had read about placental mosaicism cases.

I hope the scans and Amniocenteis will give you more accurate information.

I'm so sorry OP. Praying for you.

Depending on what happens, and what you decide, there is support in the antenatal tests thread that may be of some help to you in the coming weeks.

Thinking of you and all the best

Sorry you are going through this and the stress and confusion this must cause you both. I can't answer your specific situation, but can explain my previous experience.

My 1st pregnancy had Trisomy 13 detected on NIPT at 10+5 weeks. I had a more detailed scan at 11 weeks and the abnormalities were obvious at that time on the scan. The NT was 6.4mm, obvious facial cleft (not just cleft lip, but face), shadowing on the brain, single umbilical vein and a hernia around the umbilical cord. There were further abnormalities found in the autopsy.

The fact they didn't see any abnormalities on your scans is a very good sign. Especially as the NT was normal and everything else looked fine. I too was wonder about mosaism as a cause for the results. You might find that Tommys have advise or some guidance.

www.tommys.org/

I am really moved by all the responses to this thread, this was far more than I anticipated and truly grateful you all took the time to provide your input. Thank you all.

I'm reading all your responses and sharing advice and research with my partner very informative stuff.

I've learnt a lot, and it's clear that before we take any action we will 100% certainty as to whether or not baby is affected by trisomy 13. I'm frightened by the thought of aborting a completely healthy baby.

Conversely, I dread the thought of carrying a baby to term only for the child to pass away within a week.

Hi @babyonboard90 I am so so sorry you find yourself in this situation. I just wanted to echo what some ladies have already said that the most definitive answer you will get will be from doing an amniocentesis, which directly biopsies the baby’s cells and can tell you for sure whether T13 is present or not. I wouldn’t do an NIPT at this stage because it samples the same DNA fragments from the placenta (ie same source as CVS) so if they suspect confined placental mosaicism it will not provide additional clarity. If anything the CVS is more “reliable” and NIPT is only considered a “screening” test (ie results come back as high risk or low risk rather than being definitive yes/no).. so if the results come back high risk the likely course is they will still refer you to do an amnio for a conclusive result. As some others have said it’s really encouraging that your scan was clear. I would definitely push for scan with a high risk OB or fetal medicine and amniocentesis. I’m so sorry about all the stress and worry this must be causing you and your partner. Sending lots of positive thoughts.

Meant to also share this link in case helpful
obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.4659

@Heartbrokenmama Thank you for sharing that and wow! The figures in that study are actually quite telling!

Seems like trisomy 13 has one of the highest risk of a false positive. I will 100% be demanding an amniocentesis in our next scan.

10days to go and it's difficult to be patient. I'll be sure to provide an update once we know more.