Did you test for Downs?

[Ladypug]

I had my first mw appointment today and she explained at the first scan we have the option to test for Downs. If it comes back high risk then testing becomes quite invasive. She said if we would have the baby with Downs then that would be a potential reason not to test. She also said some people just "feel" low risk or don't want the invasive analysis.

What did everyone here do? Did you test for it or not? X

Thanks for the advice all. Will wait and see what my risk is based on nhs result and if it's high will investigate harmony as quite scared of the miscarriage risk of amnio.

I'm with Kings and I believe that they are only referring to Harmony those who come back with a high risk from the usual standard test? They aren't doing it for all (presumably as its a trial thing).

I had assumed I would get the Harmony test automatically due to my age but didn't. Can't remember what my risk factor was though, would need to check.

I refused the test. It's only a % likelihood, not at all accurate. Wouldn't risk the later invasive test when there's no way I would terminate anyway.

Mosaic Downs wouldn't necessarily show up in an amnio, as it usually has to be tested via a skin sample or biopsy.

many genetic conditions wouldn't show up in with an amnio, as the testing isn't yet at a stage to pick up all the genetic conditions out there. Which is why there are studies that look into the thousands of people who have undiagnosed genetic conditions.

On terms of testing if you wouldn't terminate, I did.

Downs Syndrome carries heart problems, feeding problems and an increase in the risk of birth complications.
I wanted a water birth: therefore I was keen to know that it would not be placing the baby at risk if they had Downs Syndrome. Had the risk been high, I would have chosen a hospital with relevant specialists and had a more medical birth.

My second pregnancy (first was MMC) ended when we TFMR for Patau's syndrome. It was picked up at my 12 week scan. In subsequent pregnancies (I now have two DCs), I had all of the generic tests that were offered (and given my history, there were a lot). It is everyone's individual choice, but I would always prefer to know if there was a condition that is incompatible with life. Until you get that diagnosis, it is very difficult to know how you would react. I always thought I wouldn't terminate for any reason, either.

Generic? Genetic

I didn't have any tests. My son has downs syndrome. It was a big shock and adjustment. But not the utter nightmare people seem to think it is.

It makes me so sad to hear about people terminating for Down's syndrome, and I agree with a pp that people seem obsessed with it.

We refused all genetic tests because we knew we wouldn't choose abortion whatever the tests said. As it happens, DH's half DSis has significant learning difficulties which were not detected until she was six or nine months. In her case there is no syndrome or genetic abnormality to find: her brain simply didn't form correctly which was not detectable twenty years ago before her birth. So even with testing that doesn't tell you everything.

Agreed Wips

I replied earlier in the thread that I declined the 12 wk screening based on what I had read in the literature given by my MW and also in the three pregnancy books I have. Nowhere mentioned Edwards or Patau. Bit shocked that I hadn't heard about them until this thread.

20wk scan tomorrow......

I know nottalotta it's always Down's that is the focus, even the thread title...

I did, I wouldn't have had the invasive tests and I wouldn't have terminated either. As it was the chance was 1 in over 5000 so great odds, ds has significant autism though and no test or prediction for that.

I've not read the whole thread but I wanted to add my experience.

A lot of combined tests will also test for the other 2 trisomies 13 and 18. I've always said that if my baby had T21 (Down's syndrome) it wouldn't make a difference but I wanted to be prepared.

As it was, long story short, we found out our dd2 had T18 which is incompatible with life. Even if she had gone to term she would have lived a few hours - a few months all of which would have been very medicalised. In finding out we were able to make the choice (at 22 weeks so not an easy decision) to not carry on and save her from possibly hours or months of pain.

I guess what I'm saying is that the test for DS might not make a difference to you but check if the combined test also reports on the other trisomies. At least that way you have a chance to make a choice if (god forbid) your baby doesn't have T13 or T18.

Sorry for the grim story. I do feel that there is not enough said about the other 2 trisomies and although they are rarer they are also so awful.

We did the first test (blood and measurement of fluid on the neck) however, both agreed that if it came back as high risk that we would not do the second test but just use the result to mentally prepare ourselves for caring for a super special individual coming into our lives. At no point was there any consideration of termination. My OH and I were completely on the same page in respect of next steps should we get a high risk result. I know of a Downs child and whilst she has some challenges, she is a beautiful individual that very positively contributes to the lives of others. To think that she could have been terminated feels me with such sadness.

No-we chose not to have the 12 week tests, just the scan to check for both arms, legs, head etc. BUT at 20 weeks, little did I know, they still measure the Nuchal anyway so a bit pointless them giving us a choice! I had a borderline measurement which indicates Down's, have had only one soft marker. I am due in 4 weeks and will know when baby is born if it has Down's.

I naively went to my 12 week scan for my first pregnancy thinking, 'I wouldn't terminate for Downs, but I'd want to know so I could be prepared'. In the event, the sonographer didn't need to measure the NT to see that something was very wrong, so I suppose you need to be aware that just by going for the 12 week scan you may discover fetal anomalies. At that point, it made sense to me to opt for a CVS to find out what was causing my baby's symptoms, and whether there was any hope of the baby surviving to birth. The CVS picked up a chromosomal disorder (not Downs) which, taken alongside the progression of my baby's symptoms picked up on weekly scans, led my consultant to advice me that the baby would not survive to birth. I opted for a TFMR, but I still found it a difficult choice, and understand why some people would prefer to wait for a miscarriage or still birth (horrible choice either way).

So I'd second other poster's comments that the screening can identify other conditions, some with a much worse prognosis than Downs Syndrome, and some indeed which mean that the baby will not survive to birth at all. In other cases, screening can eliminate many genetic conditions and might then enable doctors to pinpoint the cause of a baby's symptoms which could lead to rapid intervention after birth to help the baby: for example, it may assist the diagnosis of cardiac problems which need to be treated promptly. I'm typing this 39 + 2 with baby number 2, and I didn't opt for any invasive testing this time round as no anomalies suggestive of underlying disorder were picked up at either the 12 or 20 week scan.

Hi WipsGlitter I started the thread and as I said earlier, I had never heard of Edwards or Patau, it's not on any of the forms I have and the midwife didn't mention it either. Without a forum like this I wouldn't have ever know - hence why it isn't in the thread title, it took this thread for me to discover these!

I wanted the test because my auntie has downs and suffers severe learning difficulties she cannot even speak. My 90 + grandparents still have to care for her and it us tough on them. I would like the choice whether to continue or not because downs syndrome can be very severe in some cases.

Sonographer could not get the baby in position to do the test at the scan at 12 weeks, so I'm getting the blood test done next week.

I had Downs screening done for my first two children too. I was 24 and 27 when I had them both.

First two babies were 'low risk', and I'm hoping same is said for this baby too.

I always fretted with my first pregnancy that something terrible was going to happen so unlike many others, I wasn't excited about the pregnancy but terribly anxious and wanted all screening tests that were available to me. I have done this in all my pregnancies as I don't take it for granted that all will be well. I worry a lot all throughout each pregnancy, have had five so far. This is my final pregnancy and I will be glad when the baby is born and know he or she is healthy. Cannot relax until then.

If all is well, it's just a bonus.

I tested and also did the Harmony test, like scarednoob.
Matter of personal choice. What would you do if you tested positive?
NHS wish came non negligible, and I really wanted to avoid an amnio / CVS because of the miscarriage risk.

If it tested positive, I'd terminate because I have health problems myself and wouldn't be able to cope with a child who had additional needs, plus look after the two DC I already have (it would be unfair on them). It wouldn't be manageable in my personal circumstances. DH also of the same opinion.