1/34 for T21; 1/5 for T18 and enlarged bladder; CVS last night

(12 Posts)
allyfe Wed 28-Apr-10 14:31:00

I went for my 12 week scan yesterday, my husband couldn't make it so a friend came with me. As the title of the thread shows, the results were not good.

It is my second pregnancy and last time the T21 was 1/4000 (don't remember T18) because of a combination of my bloods and the scan. This time, the bloods and scan bought it down from a base of 1/186 to 1/34. The chances of T18 are so so high at 1/5. I had the CVS there and then, and now have to wait until Friday or Tuesday (!) until we get the results.

Even if the results come back clear, the baby still has an increased bladder size and that could be a life-threatening problem. Although Professor Nicolaides seemed to think that the chances were low as the 'enlargement' was only just inside the abnormal category.

I'm feeling really scared. After the scan for our DD, it felt amazing but it didn't all feel real until I was about 36 weeks pregnant. This time I had thought how amazing the scan was because we saw everything, and that was our little baby. And now there might be something very serious wrong. I am also feeling terribly guilty because I think we would have a termination.

I'm finding it hard to deal with the idea of a negative outcome and what we would do.

Feeling so sad.

Ally

helenlouisey Wed 28-Apr-10 15:46:27

Oh ally, I'm so so sorry. I also had my scan at the FMC (which am assuming you did also if you saw Professor Nicolaides) my risks for T21 and T18 were 1:2 for both. Unfortunately the CVS confirmed T18 and I terminated the pregnancy in December last year. I know exactly what you mean about the scan making it so real, from the moment we knew there was a problem (due to bowel having grown outside the body) I could no longer look at the scan, and when I had the CVS I had to look away, it is so difficult.

If the worse does happen,and you don't know for definite yet, please remember that what ever decision you make that it will be the right one for you, your husband and your little girl, and no one can ever question that you loved and wanted this baby and your decision was one based on love and wanting as little suffering as possible for your baby. It is an awful thing to have to go through and my heart goes out to you. But you will find the strength to get through the next few days and then once you have the results take you time to come to decision jointly with your husband.

There are lots of lovely ladies on this board who will be here to help you through the next few days, and fingers crossed you will have a happy outcome.

Take care

firefly101 Wed 28-Apr-10 17:53:21

Just wanted to say I am thinking of you, after your lovely reply to my post I'm just sorry I don't have anything helpful to add.

FabIsGoingToGetFit Wed 28-Apr-10 17:55:46

Give the ante-natal results help line a ring. They were very helpful when I had markers for Edward's syndrome. (T18)

You will probably get negative feelings about ES but babies can survive with it and live decent lives.

Good luck.

allyfe Thu 29-Apr-10 20:09:19

Thanks so much for your posts. Helenlouisey, I really appreciated to really thoughtful and compasionate reply. It made me feel better about what our options could be. Firefly101 I read your post on your thread which was also lovely. What is so wonderful about this board is it is just so lovely to know that other people are going through the same experiences.

We got the results of the cVS today and for the inital checks - Downs, Edwards, Patau, they were all clear. There are the other tests we won't hear about for a couple of weeks, but the midwife was positive. We do have to go back in 4 weeks for the scan on the bladder. I know that the outcome of that can be really serious, but it was only slightly increased, so I am deeply hoping that all will be well.

I am have a niggling feeling that even if the bladder is okay, their might still be something wrong. I keep telling myself that the chances are about percentages and not about a kind of continumn of things gone wrong, so things can still be totally normal.

But I hope that I can relax completely until the scan.

Thanks again for your support,
Alison

angel1976 Thu 29-Apr-10 20:30:50

Alison, I just wanted to add my story as I know exactly how you feel... With my first pregnancy, I had a bad nuchal (1:63 risk of Down's). I had a CVS that failed to obtain a result. So had to have another 5 days later. I had bloods taken during my CVS and it also showed an elevated level of a particular hormone that could indicate growth issues so I had additional scans as well. They could also see some 'lakes' in the baby brain, which they said was normal and should clear up. It was just one thing after another. I did not relax through the whole pregnancy... I just thought with so many things 'wrong', the baby cannot be healthy. DS1 is now a very healthy, clever and active 26-month-old toddler. I went on to have another DS, who is now 6 months old. That pregnancy was completely problem-free. So please do not try to worry too much!

nochy Fri 30-Apr-10 13:39:45

I'm at the same stage you are. We were 1 in 4 for Downs and 1 in 5 for Edwards but it came back all clear from the PCR last night. Now we wait for the rest of the results in a week or so. If i'm honest i can't believe we 'passed' this stage and will ever think of cvs or amnio as simple procedures again. They're simply terrifying.

I feel a bit stupid as i can't seem to find what the next steps are. What the chances of abnormalities being found? Something caused the fluid in the neck, so could it be truly benign and if so what's the percentage? Have you got any insight? We live overseas and are not getting much guidance!

allyfe Sun 02-May-10 10:05:48

Angel1976 thank you so much for posting your story. My logical self tells me that it is all about statistics, and that where the boundaries of 'normal' are set are based on that, and that as a result many other things can fall into normal, just not necessarily on the pre-set boundaries. But it is so hard not to feel like with threatened issues, there may be some other issue. I'm so glad to hear about your wonderful clever active 26-month old. It is such a great reminder of the fact that threats don't mean anything other than having a closer look to check.

Nochy - I am no expert, but partly based on what the midwife told me, I think that what the are testing is for the threat of downs and sometimes Edwards. So if the test comes back negative for those then that is what the elevated risk is. They test for the other things because they can BUT I don't think that we are at any more of a risk than anyone else. So fingers crossed, that will all come back clear. Also, those chromosonal abnormalities are really rare.

In terms of what caused the fluid in the neck, I think that it does depend quite a lot on how much was there (I'm thinking that is the same as the nucal fold measurement?). If it was only a bit bigger than standard then I think (but find it hard to emotionally convince myself) that it is just a slight variation on the boundaries of normal, but actually that it can be normal, and so with nothing else there. Do you know how thick the fold was? Did they spot anything else, or was it just the fold measurement?

One thing is that with 1 in 4 - 75% of babies with that measurement will not have downs and will be 'normal', and for your Edwards measurement it is even higher. So I hope that the answer is that they are cauious just because in rarer cases it means there is a problem, but in the majority it isn't.

Let me know how your other results go. x

angel1976 Sun 02-May-10 20:08:36

Not sure if this will make you feel better but there's a post on the Behaviour/Development board from a lady who has a baby who is born healthy and the NT measured 5.7mm during the nuchal! Here's the thread.

allyfe My DS1 does have a thick neck (that I reckoned is the reason for the thickened nuchal fold grin!).

nochy Nuchal fold measurement is one of the markers for chromosonal defects, it is NOT definitive so your baby can have a high nuchal and be completely healthy. They normally test for Edward's, Down's and Patau as they are the most common of all chromosonal defects. If memory serves me right, these three syndromes make up 97.7% of all chromosonal defects in existence so once you are clear for those, there's only a 0.3% chance of something chromosonally wrong with your baby. If you are interested to find out more about the nuchal scan, there is a great online course here from the Fetal Medicine Centre, whose director Professor Nicolaides devised the nuchal test.

allyfe Wed 05-May-10 21:05:58

Hi Angel1976, it did make me feel better. Thanks

They did tell me that the baby is a carrier for cystic fibrosis. However, that doesn't mean that the baby has it. It does mean that either my husband or I are carriers. If we are both carriers then there is a 1/4 chance that the baby will have cystic fibrosis. They told me today that the baby only has 1 of the cystic fibrosis genes (there are a number of mutant genes), which is a good sign. My very brief research shows that the baby needs to have two mutant genes, although it could be that the baby has two the same. But that it only carries one is a start in the right direction. My husband and I are going to be tested because the baby can only develop cystic fibrosis if we are both carriers. Fingers crossed. It is hard though, my last pregnancy was so easy compared to all of these worries. I guess I am glad that this has happened with the second pregnancy. I would have found it even more stressful if it had been my first.

Fingers crossed.

user1472226496 Fri 26-Aug-16 17:02:23

I was offered the Harmony test on the same as you at Harris birth centre. My blood chemistry was normal but the NT measurement was 2.9mm, increases the odd to 1:250 for T21. what even worse was that my baby's bladder is not visible during prolonged scan, together with unusual umbilical artery, they suspect my baby to have bladder exstrophy (prevalence of this disorder is like 1 in 30,000 to 50,000). They did say my baby is very small (11 weeks 4 days) at the scan, so need to wait for another two weeks to re-scan. The waiting is really killing me, there is nothing else I do other than google these terrible disorders, I know it can't help at all. I have no idea what else I can think of and how to pass through the period easily.

All the best for both of us.

5amisnotmorning Tue 06-Sep-16 18:45:45

I had a 5mm nuchal and a 1:2 probability with my now 5 year old daughter and a 3.5mm nuchal and a 1:15 probability for my now 2.5 year old son. I couldn't believe that they would be OK throughout both pregnancies despite having been through it before with DS. But they were. And it can mean nothing. I still have the occasional wobble that there will be something there later in life but they do have big heads and that is all.

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