Downs, Edwards and Pataus Syndrome Screening

[Emmy83]

Hi all,

Need some advice. It's my first pregnancy and I'm 34. I am 12 weeks in. I am supposed to have the Downs, Edwards and Patau's Syndrome Screening next week but to be honest I don't see the point. I feel it will add possible anxiety which I could do without. They can't give a yes or a no answer, so even if I am told I am high risk I may go on to have a perfectly healthy baby. If I am told low risk I may go on to have a downs syndrome baby. So is there any point? Did anyone else feel like this or is it just me being irresponsible? Please feel free to tell me as it is... I don't get offended... thanks

Hi there and congratulations!

We categorically refused the tests for the same reasons as you've stated above. We knew we wouldn't terminate and we didn't want to be told we were high risk if they couldn't give a categorical answer.

We went on to have some frightening anomalies in our 20-week scan and even then we refused an amnio (the miscarriage risk was just not worth it for us) and further genetic testing and it turned out ok in the end on the genetic front.

I'm not saying that's the right call for everyone and I wouldn't for a moment judge anyone who wanted all the testing in the world. I just didn't want it and I certainly don't regret not having it xx

If you would continue with your pregnancy regardless of the result, I think there would be little point having the screening done. If a high risk result would mean that you’d have a termination, id go ahead with the screening. Either way, you’re certainly not being irresponsible.

I had the screening done. We would have wanted extra tests if it showed a high chance of Edwards or pataus. I’m not sure what we would have done if it showed a high chance of downs but we probably wouldn’t have had any extra tests done unless we could get the harmony blood test done. I came back low risk for everything which is great news and Is definitely reassuring even though I know there’s always a slim chance the baby could still have one of the syndromes. Personally I couldn’t really see any harm in having the tests done with them not being invasive.

It depends on what screening you're talking about - if its the panorama or harmony, for which you go private, they essentially tell you to something like 99% certainty. If you get a high risk, you have to have an amnio to confirm, and its not impossible you would get a false positive, but it is v v unlikely. We had it done and I am v glad, it has taken a weight off. Personally, I think with either Edwards or Patau, when the vast majority of babies die shortly after birth, I would terminate for medical reasons and in that case I would want to know as soon as possible, rather than have it picked up at a 20 week scan.

With downs, I am unsure if I would terminate and tbh wouldn't have had the test except they were part of the same package and on balance I thought it was better to know. But it really does depend on what you would do if told at 20 weeks vs finding out now - a late term abortion for medical reasons would be a lot more traumatic, emotionally and physically, than one at 12 weeks, and that is ultimately what led my decision.

Hi! I see your point. We did the tests because we wanted to know. In our case, the results were a 1 in 8600 chance of Downs, and a 1 in 45000 chance of the other two. I wouldn't buy raffle tickets if those were my odds, so it did reassure me:)

My understanding is that you will be offered further (invasive) testing if your odds are high. I think this testing (CVS/amniocentesis) is much more precise, possibly even diagnostic.

I am trying to remind myself that the most likely outcome is that I will have a successful pregnancy with a healthy baby at the end. I know this is easier said than done, but you can work yourself into a right state worrying about all the possible outcomes. Unless you have indications that something might be wrong, the most likely outcome is that everything will be fine. Also important to note that reading the boards here can give you a skewed perspective, as people tend to want to discuss things when they go wrong - apparently the chance of a missed miscarriage is only 1% for example, whereas it would seem much higher from the threads on here.

Good luck making a decision.

If you're sure that you would go ahead with the pregnancy regardless then I don't think it's irresponsible at all not to have the test done. It's worth noting that if you are considered high risk, further tests are then carried out based on this to give you more accurate results. For me, I would have really struggled knowing that my result was high risk and would have seriously considered a termination, so I wanted to get the test done for that reason. But I know lots of people don't and it's completely fine not to.

We had the tests. Personally I would rather know, not that I would have had a termination but just to be prepared.
Whatever you decide will be the right choice for you.

For me, Edwards and Patau were the clinchers, with them being fatal in late gestation. My reasoning was that if they're going to die anyway, I'd rather get them out while they're small enough for me to not have to give birth to a reasonably large infant. I think you can have Edwards and Patau tested without the downs test.

Congratulations on your pregnant. Choosing whether or not to have trisomy screening is a completely personal decision and will vary between all of us depending on our thoughts, preferences and beliefs.
Regardless of what anyone else chose to do you are perfectly entitled to make you own choice and decline the test if you wish to.

I had them done because I thought that's just what you did. Just for Down Syndrome then. Came back with awesome results. 4 weeks post birth we got a mosaic trisomy 18 diagnosis. Birth, resus etc would have been harder if we'd have a diagnosis ante natally. I don't think I'd bother next time.

My sister had her child s few years later when it came in for t13 and t18 and refused because she knew she wouldn't abort and would want full intervention after birth.

I have a wonderful 3 yo in mainstream school who is my angel and delight in my whipped cream pudding

Whilst Edwards and Patau have an unquestionable high rate, they aren't 100% like some posters suggest. There are many children - not just neonates - living happy, fulfilling lives

what screening is it?

i got pg at 44 and had the NIPT privately which went on to show a high risk of downs. (99% accuracy)

i then had CVS at hospital which confirmed the result.

i tested because i knew that in my circumstances i would not continue with a confirmed diagnosis and went on to terminate - i found out early however and had the NIPT at 10 weeks, had to wait until 12 weeks for CVS and terminated soon after at around 14 weeks. (NIPT is a screening test but CVS is diagnostic)

if you know absolutely that no matter what the outcome of those tests will be that you will 100% continue then id not bother with the screening.

Congratulations @Emmy83 !
We didn't have the screening tests either, for the exact same reasons as you. If you know that they aren't 100% positive and wouldn't abort if there is a high risk then I personally felt like there was no need to add more anxiety worrying about it.

Didn't with my first.

Did do nipt with second as I was a lot older, had had miscarriages.

It didn't really sit hugely well with me but we knew a few too many people who had had Edwards and pataus recently (older parents) and felt like we should also consider impact on our first child. I didn't have any issues with downs but I felt I'd need to know to prepare myself, and Dh.

I chose not to have it as like pp have said even if it was high risk I would still go ahead with the pregnancy.

I think you really need to consider the tests or as other posters have said. Edwards and pataus are not compatible with life. That's a very difficult decision to make, loosing a baby in later pregnancy or at birth.

I've had miscarriages, amnio and a stillbirth. In my experience if I could end a pregnancy that was never going to continue as early as possible that would be the best thing to do all round. My lest pregnancy was triploidy which also is incompatible with life. Fortunately the heartbeat stopped on its own at 14+2 which is when it was discovered. I would never have continued that pregnancy.

You should have been counselled by your midwife and given some written information in order to make an informed choice, not simply booked in for the screening. Like all screening tests, it is an offer that you can decline

Again, whilst the fatality rate should not be understated Edwards and Patau is NOT incompatible with life. There are many children living proof that children with this can survive past pregnancy, birth and that milestone first birth.

Yes many babies cannot survive but the high abortion rate and low post birth intervention rate skews this figure. Furthermore I know parents given a diagnosis of full Edwards and Patau antenatally and then it be changed to mosaic post birth where the outcomes can be very different.

I did think after posting my facts were wrong. I suppose it depends on what you feel you can cope with once a child is here.

Either way for me, knowledge would be power. A bone invasive test with higher accuracy levels would be the option I would choose.

*none

As others have said, if you aren't going to terminate regardless then no point having the tests.
Personally I am not going to keep a child with a high risk of Edwards/Patau/Downs due to my age etc. I am going private to have the NIPT test done.

And I'd never judge anyone for making a different decision that I would DBoo I just think that particular phrase is emotive, but its the one the medics use too so all those of us who know different can do is tell other people. Its one of the reasons I'm so honest about my son's genetics to

I don't understand this logic at all. Why wouldn't you want to check your baby is healthy. My baby did have Edwards syndrome. Unlike a PP thinks Edwards babies do not have long fulfilling lives. Over 98% are stillborn and the rest usually die within a few hours or days of birth. Why wouldn't you want to know that was coming? It was fucking horrific. We have tried for years to conceive. I had a termination at 14 weeks. Can you imagine if I chose not to know? Buying all the nursery stuff, picking a name, telling all my friends and family to then give birth to a fully grown, yet dead baby?!

I thought if your results came back as high risk then you were referred to get CVS testing or Amniocentesis?

We didn't have that initial test because of a genetic condition my husband has they just checked those chromosomes too while checking the other ones. But I thought a nurse or midwife had said what I did in first part of post.

There are types of screening that could give you a more reliable answer. Even if you are sure you would keep the baby, it may need certain types of care immediately after birth that it would be better to have in advance.
I know a couple who didn't have the 20 week screening and their baby died immediately after birth from a very easily treated heart condition that would have needed immediate specialist care not available where they gave birth.