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

While children with downs can and do live happy lives, Edwards is almost always fatal - and I say this from personal experience.

It’s up to you if you have the testing or not. Even if you’re going to carry on with a pregnancy it’s useful to have the information - a proportion of children with downs may need cardiac treatment soon after birth and it’s good to know so you and the medical team can be prepared.

Testing means you have the knowledge- what you actually do with that knowledge is up to you. It can mean you are better prepared for interventions and treatment after birth.

Presumably OP will still having the 20 week screening so that will pick up any congenital heart defects etc.

leigh I'm incredibly sorry for what you went through losing your baby.
I never claimed they all have long fulfilling lives, I said some go on to have happy lives. No one can dispute how high the mortality rate is or how low survival past 1 year is, but the fact that there are children doing this means it isn't 100% fatal antenatally or neonatally or even within that first year and therefore it isn't incompatible with life. If Edwards and Patau are incompatible with life then what are those kids living with it??

Less than 1% of children with Edwards live to ten.

It is not incompatible with life, but it is generally a very poor outcome.

I think we need to make this very clear - whenever this issue comes up someone will come on and become upset because they have a child with that condition and that child of course is loved, wanted and the centre of their world. They can sometimes take any discussion over whether others would continue a pregnancy or not as a personal slight that reduces the value of their child when that is not the case at all.
If I had an Edwards diagnosis I personally would not continue because of the direct experience of the syndrome I have had. That does not reflect on anyone else’s choices, decisions or anyone else’s child. Those children are valuable precious members of society. And people’s pregnancy choices are theirs alone and do not imply judgement on anyone else’s choices or children.

leigh

After much deliberation we decided not to do the screening because the outcome wouldn't have affected our decision to keep the baby - at least until 20 weeks. I would keep my baby regardless of Down Syndrome (I know this is not possible for all parents, but this is what we would personally do). So Edward's and Patau's are my only slight worry, but the incidence is so low already. Given the invasive tests for these aren't 100% accurate and carry a risk of miscarriage, and Harmony isn't 100%, on balance it just isn't worth us even screening. We did have a scan at 16 weeks and everything looks good so far. If it didn't, then I would obviously consider investigating my options. Totally understand other's decision to screen though, if only to be informed.

The NHS testing is free and if it does pick up something gives you chance to prepare. If it does indicates downs you might be offered a fetal cardiac scan which has a much better chance of picking up a heart issue ( only 40-50% of chd are picked up 20 weeks, less in some areas) and means you'll might give birth Inna specialist hospital. For me it's a no brainer to have it even though I will be lucky enough to have cardiology and a 20 week scan with fetal medicine in this pregnancy hopefully (due to previous loss).

Some areas (maybe all now?) will offer the NIPT if you come back high risk before an amnio\cvs.

Hypermice I don't disagree with a word

hypermice exactly. Perhaps I did take offence as it still hurts so much to have lost my baby and to hear someone say I didn't need to have and that maybe it could have survived. I know it wouldn't. Edwards babies don't live. It's just so painful. I can't imagine not having all available knowledge in advance though

I also hate referring to my baby as 'it' but I couldn't bare to find out the sex. It would make him or her (I feel 'him') too real.

We had them for all 4 of my pregnancies. My second daughter's test came back as 1 in 40 chance of Edwards Syndrome. I was devastated. All my friends and family kept saying "But that means 39 in 40 chance of not having it". But she did and we lost her. I went on to have two healthy boys after my loss. I can't tell you the terror we felt waiting for the results each time, but there was no way I was going to go through a whole pregnancy not knowing.

@leighdinglady I have just read the rest of the thread and wanted to send you a massive hug from another mum that lost a baby to Edwards Syndrome. I didn't have to choose whether to have her or not as she died at 16 weeks. I was then induced and had to give birth to her, it was the most horrible day of my life.
The reason some babies survive a bit longer (since I see some debate here) is that some have it to a lesser degree (it's called "mosaic" I believe) but babies with full blown Edwards are miscarried or stillborn. The rest have short lives with numerous disabilities and severe health problems. I don't know if any survive their teens. It's a terrible thing to have.
A massive hug to anyone going through events like these. Fortunately they are rare.🌹

leigh and ski I am so so sorry for the loss of your babies. I think people do generally mean well and often don’t know what to say to people going through such a heartbreaking time. Not that it helps at all.

I am actually a geneticist and I’m sure you’ve been told and know this already but the chromosome segregation issues that lead to Edwards are sporadic and random and absolutely nothing you did or didn’t do caused it.

@Hypermice thank you so much for your kind words. Yes I know, it was one of those things...just bad luck. The rest of my babies were fine. X

@Emmy83 I've jus had this screening and it was literally something I had done cos we wanted to know I'm 32 and myself and my partner wanted to know. We knew it wouldn't make a difference if the baby had Down's syndrome only the other two syndrome cos of the severity and descions that would be needed to make. I think it's a good test and yes you do worry but I think once you know it's always a relief.

We had the Harmony screening done and came back with a 1/10000 chance of trisomy 21/18/13. I had chosen to take the screening as my sister had a Down’s syndrome pregnancy a few years ago, and I witnessed the personal trauma she went through when she decided that for her, the right decision was to terminate.

With the low result, my mind was put at ease and I didn’t think of chromosomal issues again until my 20-week scan when they picked up two markers for Edwards Syndrome. Whilst many have said that they would and have continued their pregnancies regardless, for me personally, I knew that I couldn’t manage the daily stress of not knowing for certain. I also knew, again for me personally, that the right decision would be to terminate rather than attempting to bring a baby into this world that if born alive, would likely live just a few days or months and experience little more of this world than the inside of a hospital. So we elected to have an amnio test.

The wait for the results was the most agonizing, sleepless weekend of my life. Believe me, this is a very much wanted baby and feeling it kicking inside and knowing there was a chance that it might not survive was a brutal introduction to the (potential) realities of becoming a parent. The thing that kept me sane was knowing that the results of our Harmony test had been so good. If I had not had any good earlier test results, I don’t know how I would have coped.

Thankfully, the early FISH results came back clear, and although we’re waiting for the full amnio results still to come back, the FISH + Harmony results have convinced us and our doctor that it is extremely unlikely that any of the three trisomys are present. The markers they found at the scan don’t seem to indicate another rarer trisomy either. So we’ve been able to relax and stop stressing me (and the baby) out.

For me, taking the NIPT test was the right decision, 100%.

And my heart goes out to those of you that have lost their babies after going through a similar ordeal. Where people find the strength to survive such a loss, I don’t know, but I think you’re amazing.

Having a supposedly high risk of downs does not mean you will have a downs syndrome baby as some posters are writing. It's simply a statistic. A good friend came out as high risk went on to have amniotic and the baby was perfectly healthy, as the usually are. You need a diagnostic test like amnio to determine if a baby is Downs. Is you are not going to abort I simply wouldn't bother. I had it done as it was part of a general blood testing.

it depends on which test it is SVRT

the stats for the harmony are 99% but the diagnostic CVS or amnio can tell exactly and are classed as diagnostic.

my harmony was accurate. confirmed with CVS.

and i feel the need to say that at first i thought i would not terminate for downs until it became the reality and i did my research - downs is a spectrum - i would never tell anyone what to do - my research brought me to a decision that i hated and agonised over. i was 44. i knew there would be no one to look after my downs dd when i was gone. i also knew there there was a very high chance that i would be a single parent at that age to a special needs child with no support network.

i salute anyone who can be carefree and optimistic enough to carry on regardless.
i also salute anyone who like me, chose what i felt was an equally difficult option, i did not want to go through what i did and my dd was much wanted. it was without doubt the single worst day of my entire life (and ive had some really really shit days ) my ds has autism and i just knew i could not fight the good fight for those support services into my 80s for my dd with downs.

i had to test because it was crucial to my circumstances.