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.

I'm really surprised you've not already been offered an amniocentesis already OP. Can you get in touch with your mW/fetal medicine consultant and request one now?

The longer the wait, the harder it is and you shouldn't be being put into a situation where you are having to wait 10 days.

The waiting is horrible. I had a 4 week wait once to find out the details of a medical condition of my unborn baby. It was awful. So I hope you can try to find something things to distract yourself.

@HeyFloof

I'm really surprised you've not already been offered an amniocentesis already OP. Can you get in touch with your mW/fetal medicine consultant and request one now?

The longer the wait, the harder it is and you shouldn't be being put into a situation where you are having to wait 10 days.

From what I've read online a woman must be at least 16weeks into gestation before an amniocentesis can be done.

Interestingly that's exactly how far along the pregnancy will be on the down in 10days. So perhaps the doctor already has it in her mind that this will need to be done.

Apologies babyobnboard90 I thought you were already 16 weeks. I think if it were me I'd be pushing to have the amnio booked for the day of/day after the scan if at all possible, so then you can be absolutely sure regardless of the scan results and you aren't faced with another wait. I'm sorry you're having to go through this

Yes I agree, I would ask for the amnio the same day. Thinking of you

Afternoon all,

I thought I'd provide an update given how supportive everyone has been - and also for anyone else who may be in comparable position (it is annoying when you're researching and never learn how people's experiences turned out).

We went for another scan this morning. Baby is measuring absolutely normal and not displaying any anomalies. All fingers and toes present, chin and nose, great heart and brain developing fine. We also discovered that we are probably having a girl. We both wanted a boy but after 2 long weeks of contemplating the possibility of having to TFMR we are just thankful she looks good.

Trisomy 13 is quite severe, so the expectation is that if the foetus does have the genetic disorder, it would be very apparent on the scan. Sonographers and Consultant were confident that the issues are likely confined to the placenta and that we could probably proceed as normal. He suggested that he would speak to the geneticist and find out whether an amniocentesis is necessary, as he didn't think it was.

We've come home, and now he's just called us to confirm that an amnio has been recommended and ask when we could come in. So looks like we will be having it done in 2hours.

Results will probably come through in a couple days time. We are nervous, but cautiously optimistic.

It has been a complete rollercoaster of emotions the last couple weeks honestly, up and down, up and down.

Hopefully the amnio will be a positive close to this matter.

It's bewildering to think that the primary reason we are currently going through this is because an amnio was administered in error.

@BabyOnBoard90 what a rollercoaster you’ve been on. As you say it’s crazy this all happened because of a mistake but I suppose if there is something to know, maybe it’s better to know sooner than later? I really really hope it’s confined to the placenta and your little baby is as perfect as she appears on the scan. Crossing my fingers and toes for you.

Thank you for giving an update. I hope everything will turn out fine and you can relax and enjoy your pregnancy. Please let us know what happens x

What a journey! So sorry you're going through this stress. xxx
Hoping for the best from the amnio! Even when all the signs look positive and that nothing seems to be wrong it will be a great relief to have certainty.

Fingers crossed for you

What a rollercoaster. Fingers crossed for results.

Hi @BabyOnBoard90 how are you getting on? I’ve been thinking about you all week. I hope your amnio went smoothly and that you get your results back this side of the weekend. To give you a glimmer of hope - I had my amnio on Monday at 16 weeks (after a very unexpected “high risk” NIPT result for trisomy 18 at 12 weeks) and my PCR results just came back normal. Our baby has consistently looked 100% normal on ultrasound and doctors had been optimistic that the NIPT result would be a false positive due to either confined placental mosaicism or in my case more likely a suspected vanishing twin early in the pregnancy. We are so happy and relieved and thankful for this result and I just wanted to share a good outcome story to hopefully make you feel that there is always hope. Praying for a similar outcome for you 🙏🏼🙏🏼🙏🏼

@Heartbrokenmama thanks for checking in! I was just about to provide an update myself and I'm really happy to hear you had some positive news, that's awesome!

My thoughts are with you and hoping the amnio gives you that extra reassurance your both need. Brilliant that you had such a positive scan ❤️

So we finally got a call from a doctor who confirmed that amniocentesis came back clear and there was no evidence of trisomy 13!!

Coupled with clear and normal scans, the doctor they believed the mosaicism is confined to the placenta. There is a caveat; there will need to be increased monitoring of baby to ensure they're growing well and that their development isn't being stifled by issues in the placenta. I'm not too concerned about this as currently our baby is growing ahead of their gestational age, and of course - we were never supposed to have a CVS in the first place. There are lots of women who may be dealing with mosaicism but would never know as their fetus does not present as abnormal.

Needless to say this is brilliant news, and means we can start enjoying this pregnancy process. At 16week none of our families / friends are aware we are expecting our first child, it's been increasingly challenging keeping the secret (due to fear of bad news) and being recluse.

I just want to express my thanks again for the supportive words from the people on this forum. I have to say that we (both mother and father) have a whole new perspective on pregnancy and challenges that women, and couples go through being on this forum.

Hopefully anyone who finds themselves in this exceptional and unique circumstances, can find a glimmer of hope from this story.

Lovely and reassuring update OP. What lovely news and I hope that you are able to enjoy the rest of your pregnancy as much as possible xx

@BabyOnBoard90 I’m so so pleased for you!!! This is brilliant news. It’s SUCH a relief isn’t it when you get the call to say everything is ok. We are roughly the same gestation if you ever need a pregnancy buddy to talk to x

What wonderful news! I'm so happy to hear this. After multiple losses and many rounds of ivf we chose not to tell people about the pregnancy until 20 weeks until we got the all clear from the scans. But then it was so lovely to reveal the news. I wish you and your partner the same joy! Take care x

That must be such a relief having a real, definitive answer now! I can't even imagine how stressful it must have been to go through all of this! Best of luck for the rest of your pregnancy and I hope it's an uneventful one! xxx

Amazing news! Enjoy telling your friends and family

So pleased to see your news and that you finally have an answer. All the best with the rest of your pregnancy and arrival of your daughter.
Great that you have updated thos post, as these test results can be so hard to interpret and likely more and more families will experience a mosaic result, as more and more younger women are getting NIPT tests (as mentioned above is similar to CVS in that it samples fetal placenta cells) and in younger women mosiacism more of a possibility. And your result shows combining these genetic tests with the results of detailed scans so important too.

You can't do enough testing imo. You should be grateful to the Doctor for wanting to perform any tests possible!! Not complain! I cannot believe someone is wanting to complain about a Doctor running a test. FFS I've read everything on here now.

@ClaudiaJ1 perhaps read OP properly; clearly every competent person is aware the issue isn't the test, but the error that preceded the test. If there were identified anomalies and abnormalities in our 12week scan/ blood test, we'd welcome any further investigation.

Furthermore, we have had 4 consultants give unsolicited apologies for our experience (I.e. we haven't made a complaint), because despite their errors even they have the social competence to understand how stressful circumstances we were subjected to. 🙄

@ClaudiaJ1 I think the point is that for all we know there might be many women who might have mosaicism in the placenta and never know about it because the baby looks fine. Without an accidental invasive test like OP’s case, these women are therefore are spared weeks of stress and agonising about whether their baby is ok. So yes OP now knows much more than average about her baby and her pregnancy but not without considerable cost in the form of emotional distress. Having been through a similar experience and horrific wait myself I can tell you it is one of the most traumatic things I have ever lived through. I pray you never have to experience this kind of uncertainty and distress, and urge you to think very carefully before judging people’s reactions to unfathomably difficult situations.