1 in 22 for Edwards, terrified.

[NursePotato]

Hello, I wondered if anyone can give me some reassurance. Midwife had rang me today saying my screening bloods have come back 1 in 22 chance of having a baby with Edwards or Patau. I'm 35 years old, BMI 35, and I'm 13 weeks today. I have a 4 year old.

I had a bleed at 12 weeks. My 12 week scan was unremarkable, baby didn't move at first so I had to do some star jumps but heart beating fine, brain present, face and limbs fine.

I'm so confused and scared. Im a nurse and Im endlessly focusing on the negatives. I feel so detached from this baby

NT measurement was 3.2mm.

Did the baby move at all at your 12 week scan? I had a diagnosis using Harmony and was positive for Edwards Syndrome. One of the markers was that the baby didn’t move at the 12 week scan. They said she might have been asleep but obviously we consequently found out she was very ill.

The Harmony result was then backed up with a positive amniocentesis and we made the decision to terminate the pregnancy sadly.

I always ask: would you bet on a horse that had a 1 in 22 chance of winning? That is about 4.5%. I don't think so. When faced with these sorts of statistics, we do interpret them differently depending on the circumstances.

I hope very much that all works out well for you. There is a 95.5% chance that it will.

@FreeBritnee

Did the baby move at all at your 12 week scan? I had a diagnosis using Harmony and was positive for Edwards Syndrome. One of the markers was that the baby didn’t move at the 12 week scan. They said she might have been asleep but obviously we consequently found out she was very ill.

I did after I wiggled

Are you going to go for the Nifty or the Harmony test fo you think?

@FreeBritnee

Are you going to go for the Nifty or the Harmony test fo you think?

I have no clue. Tomorrow I have an appointment with a midwife who is going to counsel us on all our decisions.

@Mischance

I always ask: would you bet on a horse that had a 1 in 22 chance of winning? That is about 4.5%. I don't think so. When faced with these sorts of statistics, we do interpret them differently depending on the circumstances.

I hope very much that all works out well for you. There is a 95.5% chance that it will.

I honestly feel so awful.

Sometimes knowledge is a very good thing - and sometimes it isn't.

My family are always telling me that I tend to look on the black side - and this is because, like you, I have worked in medical settings, and my late OH was a doctor - so, like you, I will have seen worst case scenarios. But these scenarios stand out because they are uncommon.

The chances are that all will be well - I hope that you can find some peace of mind and that there are people around to support you.

@Mischance

Sometimes knowledge is a very good thing - and sometimes it isn't.

My family are always telling me that I tend to look on the black side - and this is because, like you, I have worked in medical settings, and my late OH was a doctor - so, like you, I will have seen worst case scenarios. But these scenarios stand out because they are uncommon.

The chances are that all will be well - I hope that you can find some peace of mind and that there are people around to support you.

You're so kind, thank you. I'm an ICU nurse and I've seen so much bad shit this year, it's all I keep thinking about

Hi NursePotato,

I'm sorry I have no specific advice to give, I have nursed babies with Patau/edwards syndrome most are identified through screening but some are completely undiagnosed prior to birth.

I send you love and will keep my fingers crossed all is ok. Like has been said previously, looking at the risk in % terms changes things & the most likely outcome is everything is ok xx

@lauraloo49

Hi NursePotato,

I'm sorry I have no specific advice to give, I have nursed babies with Patau/edwards syndrome most are identified through screening but some are completely undiagnosed prior to birth.

I send you love and will keep my fingers crossed all is ok. Like has been said previously, looking at the risk in % terms changes things & the most likely outcome is everything is ok xx

Thank you so much. I feel the odds are in my favour, but I'm still scared and can't stop sobbing

Not been in this situation, but agree with previous poster who said about HCP, I'm a nurse and think that we as professionals and consequently human beings are very realistic - possibly too much so at times as it's our jobs to 'err on the side of caution' or be risk averse, we'd be considered rather reckless otherwise.

Lots of good wishes for you. Hope things work out ok. x

I hope everything turns out well for you, must be very worrying. Sending prayers your way x

@feliznavidad2

Not been in this situation, but agree with previous poster who said about HCP, I'm a nurse and think that we as professionals and consequently human beings are very realistic - possibly too much so at times as it's our jobs to 'err on the side of caution' or be risk averse, we'd be considered rather reckless otherwise.

Lots of good wishes for you. Hope things work out ok. x

It's horrible isn't it? :-( the curse of too much knowledge.

@NursePotato I am so sorry to hear you are going through this. It is such a scary thing.

I was given a 1 in 9 chance for Edwards' and Patau's syndromes at the beginning of the year, so I know how you are feeling. It floors you.

I'm 38 and baby had a similar NT. I also had low a Papp-A score in the screening. After an amniocentesis it was confirmed that all was OK. The 20 week scan showed no indication of anything either. I'm 39 weeks now.

I found the best way to look at it was to consider the percentages - 1 in 22 is roughly a 4.5% chance of Edwards being present. I know this won't make the situation any easier for you, but it sounds less scary than 1 in 22 somehow.

Have a good look at the ARC website (www.arc-uk.org/), which explains your options very clearly. Only you can decide which tests are right for you and what you will feel happiest with. I wanted the CVS, but because of the position of my placenta they couldn't manage it safely. I then waited for the amniocentesis. I also had the NIPT test in between, which changed my risk sore to low. I just felt I would worry all the way through without the confirmation of the amnio. I am that sort of person though - if there is something to worry about, I will!

Please keep us updated on your journey. I will be thinking of you.

I've also just been given a 1 in 22 chance of my baby having edwards...it doesn't seem real I feel numb. How accurate is the first test fir this?

Can you pay privately for the Nipt test which gives you. 99.9% accurate results? X

Hi yes I'm getting the blood test through NHS tomorrow I'm just so scared I had a scan last week and baby looked perfect only they said my amniotic fluid looked low so I'm just so worried

NIPT tests don't give 99.9% accurate results for Edward's (or Patau's). What one wants to want to know is, given I have a positive NIPT test for a particular chromosomal abnormality, what is the chance it is correct? i.e. that the baby actually has the abnormality? This is called the "Positive Predictive Value" (PPV).

A positive NIPT result for T21 means that the chance that the baby has Down's is very high (i.e. it has a high PPV). But it is much less likely when you get a positive NIPT test for Edward's and Patau's (i.e. a low PPV).

Here, an ultrasound is important to give more information (rather than relying only on the test).

There are PPV NIPT calculators online - I don't know how accurate they are but they will reflect what I've said above.

The 99.9% accuracy is more to do with: the test is highly likely to pick up the 3 main chromosomal abnormalities. But it will also catch babies which don't have the abnormality and wrongly say that they have the abnormality. The latter number of babies become more 'prominent', the rarer is the abnormality.

e.g. 0.1% false positive rate means 10 in 10,000 tests wrongly say that the baby has a particular abnormality. But if only 1 in 10,000 babies actually have the abnormality, then you get 11 tests in 10,000 being positive but only 1 out of those 11 are true positives.

What you are told with a positive test is that you are in the group of 11 and you have a 10 in 11 chance of not having the true positive baby. These are just made up numbers, but you can get the idea.