CVS results in, please please advice..

[aiti72]

Hi, I'm new here.. Last Tuesday, 11 weeks nuchal scan showed a big 5mm translucency and we got 50:50 chance for 13, 18 or 21 cromosome abnormality. Decided to do cvs and the last week has been an absolute torment waiting for result. We were now called back and said that these three cromosomes plus the sex cromosome are normal and we would be referred to an urgent heart scan for the baby. However, the fetal medicine expert told us a week ago the heart sounded fine and now we would like to know what are the other possible genetic abnormalities that cause this kind of nuchal increase. The full report takes two weeks, but I would be very happy if you could possibly advice us what to brace ourselves to. Sorry I'm babbling, it's been just horrible..

Hi - i'm new to this site and hoping someone can help. I'm 17 weeks pregnant with our first child. I'm 38 and have conceived after having IUI after 2 failed IVF's, and 1 failed IUI. We had an appt at the clinic on monday and i opted to have the triple blood test, the results have come back with a 1/60 chance of the baby having downs. We are naturally devestated and have made an appt to have an amnio on monday. When we seen the midwife on wednesday she appeared rather surprised at my reaction (crying and very distressed) she tried to reasure me that it is only a screening test and that there is 59 chances the baby hasn't got downs. Can someone please offer me advice, reassurance if you have been through a similar thing?

Hi Regroo!

I kind of know how you are feeling. I'm going through the same thing. But my odds were 1 in 15.

We opted to have the CVS (placenta cells test) because I was 12 weeks when I had the test.

I kind of wish we had waited for the amnio, as I wasn't expecting an inconclusive result from the CVS (my post is earlier in the blogs).

It is true what the midwife says if you think that 1/60 is only 0.01% chance of the baby having Downs. Hang on to that.

The tests are a double edge sword. It is good to know if there is anything potentially wrong, which can be detected before the baby is born and then once baby is born the medics are prepared. But on the other hand, sometimes too much info is a bad thing. It makes you anxious for no reason.

The best thing I can say is : keep yourself busy, try not to read too much on the internet i.e. research papers etc (as you'll just get confused and not know what to think). This is what I have done, and it has helped.

I get my amnio on the 18th Feb. Please let me know how yours went and what it was like.

Kind Regards

Mary

Hi Regroo!

I kind of know how you are feeling. I'm going through the same thing. But my odds were 1 in 15.

We opted to have the CVS (placenta cells test) because I was 12 weeks when I had the test.

I kind of wish we had waited for the amnio, as I wasn't expecting an inconclusive result from the CVS (my post is earlier in the blogs).

It is true what the midwife says if you think that 1/60 is only 0.01% chance of the baby having Downs. Hang on to that.

The tests are a double edge sword. It is good to know if there is anything potentially wrong, which can be detected before the baby is born and then once baby is born the medics are prepared. But on the other hand, sometimes too much info is a bad thing. It makes you anxious for no reason.

The best thing I can say is : keep yourself busy, try not to read too much on the internet i.e. research papers etc (as you'll just get confused and not know what to think). This is what I have done, and it has helped.

I get my amnio on the 18th Feb. Please let me know how yours went and what it was like.

Kind Regards

Mary

Hi Regroo!

I kind of know how you are feeling. I'm going through the same thing. But my odds were 1 in 15.

We opted to have the CVS (placenta cells test) because I was 12 weeks when I had the test.

I kind of wish we had waited for the amnio, as I wasn't expecting an inconclusive result from the CVS (my post is earlier in the blogs).

It is true what the midwife says if you think that 1/60 is only 0.01% chance of the baby having Downs. Hang on to that.

The tests are a double edge sword. It is good to know if there is anything potentially wrong, which can be detected before the baby is born and then once baby is born the medics are prepared. But on the other hand, sometimes too much info is a bad thing. It makes you anxious for no reason.

The best thing I can say is : keep yourself busy, try not to read too much on the internet i.e. research papers etc (as you'll just get confused and not know what to think). This is what I have done, and it has helped.

I get my amnio on the 18th Feb. Please let me know how yours went and what it was like.

Kind Regards

Mary

Hi Regroo!

I kind of know how you are feeling. I'm going through the same thing. But my odds were 1 in 15.

We opted to have the CVS (placenta cells test) because I was 12 weeks when I had the test.

I kind of wish we had waited for the amnio, as I wasn't expecting an inconclusive result from the CVS (my post is earlier in the blogs).

It is true what the midwife says if you think that 1/60 is only 0.01% chance of the baby having Downs. Hang on to that.

The tests are a double edge sword. It is good to know if there is anything potentially wrong, which can be detected before the baby is born and then once baby is born the medics are prepared. But on the other hand, sometimes too much info is a bad thing. It makes you anxious for no reason.

The best thing I can say is : keep yourself busy, try not to read too much on the internet i.e. research papers etc (as you'll just get confused and not know what to think). This is what I have done, and it has helped.

I get my amnio on the 18th Feb. Please let me know how yours went and what it was like.

Kind Regards

Mary

Hi,

thanks for replying, i am trying desperatley to remain hopefull. It does appear that most people on this site do end up with a positive outcome. Can you explain a little more about the 40% downs markers? what does this mean?

Hi aiti72,

We went through a similar thing 4 - 5 months ago (baby #1 due in 6 weeks now) and I know how you're feeling - it's unbelievably scary, just hell on earth, and one moment you feel positive, the next it's all black - often clashing with DH who has a black/positive moment when you don't.
The entire 2nd trimester was a complete vacuum for us but things turned out to be not as bad as predicted at all.

Had nuchal screening + bloods (I'm 36 this year and due to family history we are v pro screening). Measurement was OK at 2.7 but my PAPP-A hormone levels were so low the sonographer was stone faced & teary, expecting the baby to be dead, before she even begun scanning me. V scary & silent.
We ended up with a 1 in 3 risk for Downs and 1 in 30 for the other common chromosome abnormalities. Was later told by a MW she wouldn't worry about any nuchal measurement up to 5, esp not if baby was on the big side anyway. Do you know if your baby is on the big/tall side?
We came in for a CVS two days later but the Dr advised against it due to awkward placenta position - so had to wait for 2,5 weeks before we could have an amnio. The amnio came back fine another two weeks later (heaven knows how we got through that time - hour by hour really).

Since then the doctors have tried to exclude all known abnormalities connected to freakishly low PAPP-A chronologically; growth restrictions, heart issues, placenta issues. We've had several heart scans and extra growth scans.
And so far, so good! My freaky biochemistry remains unexplained and every day is a gift now despite some detachment issues. I think it's just a defence mechanism, esp when there's such a long wait.

Thinking of you.

Hi Aiti72,
I know that others on here have mentioned ARC (Antenatal Results and Choices) but I have to mention them again.
They are a mine of information and support, both while testing is going on and then afterwards, - whatever your choice - they will be there for you. There is a support line, (and also a message board for parents who register).
I, very sadly, had bad news at a 20 week scan, and after 2 further weeks of testing we found that our little one wouldn't make it for long so we let her go. ARC were my lifeline in the awfulness and heartbreak of it all.
I've gone on to have a healthy little girl, now 2, and fantastic.

Fingers crossed for you.

Hi Regroo!

The Geneticist explained it by saying that we all have 23 pairs of chromosomes in every cell of our body. From the sample taken from my placenta approx 4 out of 10 cells in the sample contained an extra chromosome on the 21st pair of chromosomes i.e 3 chromosomes on this pair - almost like an extra limb if you like. Thiw is referred to as a Chromosomal Mosaicism.

The Geneticist explained that in the formation of the chromosome pairs, sometimes an extra one will attach - almost like a gatecrasher at a party, and then it is 'thrown out' by the original pair of chromosomes. But sometimes it stays.

People can have these extra chromosomes and show no outwardly signs of it, sometimes it does manifest itself physically in the human body, where the effects are obvious. But Geneticist don'tthey don't why. This why they cannot get to the bottom of the cause of Downs in babies.

So we are hoping that in our case these extra chromosomes or gatecrashers are confined to my placenta and not the baby. If they are, then we will cross that bridge when we come to it.

Hope this helps. Good Luck for the Amnio. Sorry for not getting back sooner.

We had the treatment at St. Georges in Tooting London, who have a great Fetal Medical Unit.

I had my amnio today and it went fine. Lovely doctor and 2 nurses. Felt a little uncomfortable when the needle went in and a little when it came out but have been fine since, haven't needed any pain relief, justed rested.

Can't believe how more positive and calmer i feel since finding this site.

Thanks everyone. Will keep you informed of the result, please keep everything crossed for us.

Hi Regroo

Thanks for taking the time to post, after what must have been a stressul day.

Glad things went fine, and that you are feeling a little better about things. I think it is about getting over the initial shock of the intial findings test results etc.

Hope to hear from you soon.

Mary

Hi Marytheresa,

We have just had the best news ever - all are results have come back clear!!!!!! Have still gor to give my husband the good news as he's in a meeting.

I am so relieved and happy.

Thank you for your support and kindness i don't think i could have got through the last few days without it xxx

Good luck with your results!!!

Hi Regroo!

I am so pleased for you, and also a quick result!!

Now you can go and enjoy the rest of your pregnancy!

I think you can give yourself a big treat after all the stress you have been under.

I'll keep you posted on how I get on. My amnio is next week - 18th of Feb.

Take care, best wishes

Mary Theresa

Hi Regroo!

Just to let you know that I got my results from the amnio today and they came back clear. So we are really pleased and I can enjoy the rest of my pregnancy now.

The Geneticist who called with the results says that it is good news, but also that we will get the more definitive answer in two weeks. This result will be from a super sensitive test that can detect even just one cell (out of the millions that we have) with an extra chromosome.

But to be honest we are not going to do anything else now, but just wait for the baby to make an appearance in early August. I am just 16 weeks.

So it looks like the extra chromosomes have been formed in the placenta as it was forming.

I can't believe it is all over and I am so happy to share my good news. From such bad odds and an inconclusive CVS result. There is hope out there!!

Take care and hope you get this message.

I just like to add all my thanks to everyone on this section who have kept me going with their own stories of hope.

I'll keep popping in for all the endless advice and wisdom from eveyone on Mumsnet.

Mary

Regroo & Mary, just to say I'm so happy for both of you - I know how you've been feeling.

Enjoy the rest of your pregnancies!

Mandy xx
(22 days to go...)

Hi Mandy

Thanks for that! ( I too will be given another heart scan at about 20 weeks, and further ultrasounds.

This is our second baby. I have an an underactive thyroid, which is treated with Thyroxine, and because of that I had extra ultrasounds for this reason with DD1. In a way it is nice to see the baby.

It looks like the extra chromosomes, that led to me having an inconclusive CVS result is due to extra chromosome being confined to the placenta, which makes the placenta less effective, this can lead to a baby being small etc. DD1 was 6lbs 7oz and even though she is 3yrs she is still in some 2 yr clothes. She is amall but perfectly formed, hit all her milestone and a little too bossy for her own good! SO I have a feeling the placenta could have been the same with her.

You mention detachment issues. I tried not to look at the baby's first scan picture at 12 weeks because of the CVS issues, and would hide my maternity notes at the bottom of the bookcase until they were needed.

It is only now, after we had a clear amnio that I can now look at the baby scan pics and bond with the baby. As I am getting bigger too, DD1 is beginning to notice my 'tummy' and wants to 'kiss the baby' which is lovely.

We are looking forward to the arrival in early August and ready for whatever may come our way. I think the whole episode has made us stronger and made me a little more humble in my everyday outlook!

Good Luck for the arrival!

Hi Marytheresa,

I've been searching for this tread to hear your newa - fantastic you must be so pleased. We too got the full results through this week - all clear!!! We have our 20 week scan this coming monday and are considering finding out the sex. I too couldn't bring myself to look at the scan picture, my belly and was dreading feeling the baby bur now i can't wait. We are due in July, keep me posted on how you are and good luck xx

Hi Regroo!

So happy that you got the message. Going through what we've been through ( and everyone on this thread) makes us stronger I think. It make you appreciate things a lot more. Instead of taking everything for granted.

Take care, Good Luck with the Birth and all.

My dob is 31st July. Our baby may come early, as is due first week of August. My hubby is July also. Don't know how DD1 will feel about that. She was born January 2006. So kind of hope baby comes in August.

Be glad when actually get to see the baby in the flesh. Touch wood all goes well from here on in.

Take care, Good Luck with the Birth and all.

All the Best, Mary

Hi Regroo!

So happy that you got the message. Going through what we've been through ( and everyone on this thread) makes us stronger I think. It make you appreciate things a lot more. Instead of taking everything for granted.

Take care, Good Luck with the Birth and all.

My dob is 31st July. Our baby may come early, as is due first week of August. My hubby is July also. Don't know how DD1 will feel about that. She was born January 2006. So kind of hope baby comes in August.

Be glad when actually get to see the baby in the flesh. Touch wood all goes well from here on in.

Take care, Good Luck with the Birth and all.

All the Best, Mary

Hi Marytheresa,

How weird my birthday is the 3rd july.

Good luck and keep me posted, wull let you know how 20 week scan went.

Fiona

Hi everyone
Due to us keeping our pregnancy a secret from everyone, you're the only ones I can talk to, so thought I'd post a little about my situation. I'm 39 & 14 weeks pregnant with our first (unplanned but wanted!) child.
We're expecting the first results from my CVS on Tuesday, and it is such a terrible waiting game. We had a beautiful nuchal scan - everything was low-risk for Downs and all working properly, at the right size etc. However, when they looked at my bloods, my low PAPP-A count meant that we still have a 1:13 chance of Downs.
Over the last few days I seem to have convinced myself that we will be that 1, and am coming to terms with it. Before the bombshell, we were 90% sure that we'd have a termination. Now, of course, it's a real risk, and we've (well, I've...) swung in the other direction. I've gone from total detachment on Monday, to an overwhelming need to love and protect our little love no matter what.
This pregnancy lark is such an emotional rollercoaster, isn't it? What I'm finding very difficult is that we decided not to tell anyone until we know everything is OK, and as my bump is already massive I'm having to avoid both sets of parents and any sort of baby-related shopping, and am taking time off work. We had hoped to be able to spread the news 2 weeks ago, yet we seem to be getting one setback after another. I'm getting bigger & bigger, and yet we seem no closer to being able to celebrate and plan. I'm sure I'm not alone in feeling like this!
Thanks for letting me offload!
Susie

hello susie. congratulations on your pregnancy! if your baby does have downs, try not to worry too much. lots of downs people do really well, i know of a downs girl who even passed he degree. -something i didnt manage to do!. just enjoy the rest of your pregnancy and tell everyone your good news. everyone will be so excited about your new baby!

Thanks, Dr Love
I know I'll cope if the baby has Downs. (I work with Downs children who are in the mainstream education system, so I have a certain awareness of what I'd be in for.) I'm more worried about my partner really. We never planned to have children, we have really busy & active lives, enjoy traveling, etc. While I'm excited at the thought of embracing motherhood, my other half is more apprehensive about the whole thing & I think the thought of a disabled child (not specifically Downs) is terrifying him. We're a very strong couple though with a lot of love to give, so I'm hoping that whatever Tuesday's result brings, things will turn out OK for us.
Susie

Children (of all varieties) change your life. I think You'd find it very hard to keep up the active/busy/travel with the least chromosone-altered baby. In fact, in some ways, a disabled toddler might be easier (later age to achieve independent mobility has its advantages).

Good luck, however it goes.

Dear susiedotcom,

I do feel for you, if you have read all the posts you will be aware that we have been through a similar thing. I too was certain we would be the the 1% and was in turmoil. We opted to have an amnio and the resullts came back all clear. Our midwife said she had had some couples with a 1 in 3 chance and it turned out to be ok. I do agree with the others that having a child with downs is not the end of the world, but if you are anything like us it is only naturally to hope that you have the perfect baby. My husband and indeed me when it came to it were very uncertain about what road we would go down depending on the result - but like your husband he has always been fearfull of having a child with a disability. Have you read maryteresa story on this thread? I hope the results bring you what you are hoping for. This site helped me alot so i'm glad you have posted. Take care and good luck. x