CVS / Genetic Testing dilema

[HollyC]

I do understand what you are saying about a later termination. Just thought I would mention that I was still being offered a surgical termination depending on my amnio results. Apparently I would still have met the time limits.

If your concern is birthing your baby rather than a surgical termination, it might be worth talking to you doctor further. My regular doctor couldn't do a late surgical termination, but there was another one who could.

If it came to it I would have much preferred to have a surgical termination as the baby passes away early in the procedure without suffering.


After losing a baby at 12 weeks I look at pregnancy differently. I know that with some people as soon as they are pregnant they say they are having a baby. When I'm pregnant, I'm just pregnant and there is no guarantee of a baby, I just take things one day at a time and hope for the best. Anything can go wrong and sometimes it does. So when it comes to taking the risk of having a cvs and an amnio, well I just see that as part of the uncertainty of pregnancy. It is not something I have any control over and certainly not something I chose.

So in response to the question of how I would have felt if either the cvs or the amnio caused me to miscarry my baby...... I would be devastated, but I would not feel that it was my fault.


I have gone through a lot with this pregnancy. It wasn't until I was about 20 weeks that we had all the test results back and while they were all good they aren't conclusive. All they can tell us is that they haven't found anything wrong, not that there definitely is nothing wrong. We will just have to wait and see when it is born and as it grows up. I have found it really difficult to enjoy this pregnancy. I have been hiding away from friends and family until I had all the test results and now that I'm finally telling people about the pregnancy they want to know why I have been keeping it from them.

I hope hearing some other stories helps you with your decision.

[Talia*L]

Thanks for your thoughtful reply Holly. I appreciate it!

I do understand what you are saying about a later termination. Just thought I would mention that I was still being offered a surgical termination depending on my amnio results. Apparently I would still have met the time limits.

If your concern is birthing your baby rather than a surgical termination, it might be worth talking to you doctor further. My regular doctor couldn't do a late surgical termination, but there was another one who could.

Hmm yes I think that I would elect to birth rather than surgically terminate. I'm sure the surgical termination is a good option at 20 weeks. But I just can't get my head around it, I think I would have nightmares for ever. I already did the first time I was told about it! Eeeeek so yes all this confirms that amnio is not a good option for me! I'm glad to have worked that out at least.

After losing a baby at 12 weeks I look at pregnancy differently. I know that with some people as soon as they are pregnant they say they are having a baby. When I'm pregnant, I'm just pregnant and there is no guarantee of a baby, I just take things one day at a time and hope for the best. Anything can go wrong and sometimes it does. So when it comes to taking the risk of having a cvs and an amnio, well I just see that as part of the uncertainty of pregnancy. It is not something I have any control over and certainly not something I chose.

Yes Holly i agree, I feel this way too I think. I am so wary of thinking about 'the baby'. I am just focused on being pregnant. I have always prepared myself for miscarriages, based on my condition, so any pregnancy that works out is a total blessing, not a given, for me.

Thanks again for your thoughts, they have been very helpful!

[Razzberry]

Talia - I was in your position not too long ago. We were told my baby probably had trisomy 13 or 18 and wouldn't survive. I had already had a miscarriage so was incredibly terrified of it happening again if I had the CVS. In the end we had the CVS as I couldn't handle not knowing and mental health wise I needed to know. We were told a D and C could be done till 14-15 weeks but after that I would have to go through induced labour, so I fet I needed to know earlier than later.
In our case our tests came back all clear and I ha my daughter Ella 4 weeks ago. I was still stressed throughout the whole pregnancy but it did help that some things were crossed off the list.

Big Hugs for you hun xox

[csab]

Thats good you have come to a decision as to what you would prefer to do. For me, I was told that I would have to have the CVS and not the amnio, due to two precious c/s's, as they did not want me to have to birth the baby if I waited for the amnio, due to the scarring rupturing. Also for me I needed to know the results asap. I had to weigh up the risk of m/c of 1 in 100, or the risk of something being wrong with my bub being 1 in 28, so the risk of m/cing with a cvs was far less. I had the head DR of the feto maternal unit at the hospital, who was very experienced in doing the procedure as he does them all the time, so I also knew I was in good hands. MIne however was done internally due to the position of the placenta as it was low and to go through the stomach would have been risky for me, could have caused damage to the bowel. When they did it internally it was like a pap smear and was over in just a couple of minutes. My cvs also didnt cost anything, due to going public.

All the best hun, I wish you a happy and healthy baby. hugs

[Talia*L]

So I am interested in the option of public. I believe we 'qualify', as we have a genetic condition, and have been seeing the genetic counsellors.

My main concern is the safety of the procedure - which seems to be linked quite strongly to the experience of the professional. I have had recommendations for the guy I am booked with (Paul Shekleton) - plus I know he is a pioneer in in-vitro surgery, so he seems to have a steady hand (LOL Human Services News - Foetal surgery a Victorian first - March 2005 ).

Having said that, I am thinking that the public hospitals do loads of CVS too. So I am wondering if I am better going public or private for CVS. For those who have gone public, did you know in advance who would be performing the procedure? Jeepers I am starting to realise what a worry wart I am. My poor children eek.

[HotI]

The genetic counsellor should be able to help you out with info on who would be performing your CVS (if you decide to go through their clinic). I think it is pretty rare that people have CVS privately, especially when a genetic risk has been identified.

Have you asked Paul Shekleton if he performs CVS in the public system?

take care

[csab]

When I was told that I need to consider doing a CVS, I was also told that there were 2 DR's that are the only ones that would be doing the procedure, and due to where the location of the placenta (down low) and that an internal CVS would need to be done, I was told that the head DR of the feotal Maternal unit is the only one that does the internal CVS's, and that he only did them on a certain day of the week, which for me was the next day. I was also told that he had done hundreds of the CVS's. He was very qualified. I would assume that you would be told who waqs going to do the cvs, but i would ask how qualified they are, such as how experienced they are at doing the procedure. You would probably find that most private DR's also work in the public hospitals.

[Talia*L]

Hmm that is an excellent question! I just called Genetic Health and asked whether I would be able to know, in advance, who would perform the procedure (I do not have a low lying placenta).

She said that, in the public system, they cannot guarantee who will perform it - if someone gets called away, someone else will step in. I explained my concerns (e.g. that Paul S is very experienced, and I am happy to go with him, but that the costs are so high) and she said she will do some more investigation, and get back to me.

[csab]

Thats excellant hun, I hope she gets back to you soon. Lots of luck. hugs

[blackduckies]

Hi I had a amnio done through Monash Clayton (public, the wait was a bit shorter, they offered counselling, and if follow up was needed/or problems after the procedure I thought through the hospital would be better), I can't imagine why they would'nt do a CVS also.
The genetic counsellor told me who woul ddo it beforehand, I did'nt know her (Andrea, sorry have no idea of last name Asian doc ) but was told she was very experienced and her risk ratio was much better than the quoted figures. We were borderline CVS or amnio, I choose to wait and take less risk with amnio...I had already decided if there was something wrong that I was going to birth my baby and I was planning on waiting until her birth could be registered.. I wanted her to be reconized as part of our family and not hidden away and naming her, having a birth certificate etc was extremly important to me.

I hope everything falls into place for you, these are hard decisions and hopefully you won't have to make the hardest ones of all, GOODLUCK!!!!

[Talia*L]

blackduckies that is very interesting and sound reasoning - I have not come across someone who waited for the reason you did, but what a lovely way of looking at your situation.

Ok so I have just heard back from Genetic Health Services Vic. The lovely genetic counsellor answered my questions very satisfactorily! She said that, while several of their practitioners (who may perform the CVS) are as experienced as Paul Shekleton, that they also have a significant number of practitioners who are certainly not - who are completing their training in this specialist area. Indeed, one of them may perform the CVS (supervised). And there is no way to control who will perform it.

So for me, that answered my question - and the genetic counsellor agreed that, for my own peace of mind, it sounded like going private with a known practitioner was a good option for me. I'm glad they called back, they are a great resource!

[csab]

Thats great hun, I am glad they explained to you what you needed to know. Definately sounds like private is the way to go for you. Goodluck with everything hun. hugs

[HollyC]

For me going public there were only a couple of doctors who perform cvs. So there weren't many options. I was told in advance who it would be, but that was only because that was the only doctor who would be working that day. Of course if he had been sick or something else had come up things may have changed.

I didn't really think about this sort of stuff when I decided to have a cvs. I was given a 1 in 5 chance of my baby having down syndrome and I had to know, despite the risks.

But money is not important. In your situation Talia I would be paying extra for some piece of mind.


I also want to explain more about my preference for a surgical termination. With the timing of my amnio it would have been just before 18 weeks I think. I had been in limbo since 13 weeks, first with the 1/5 risk for DS and then the diagnosis of trisomy 7 mosaicism. I didn't know if my baby would survive and I just had to distance myself from what was going on. I avoided everyone and didn't wear maternity clothes. It was my way of coping. I have also had a c/s for dd's birth so a surgical termination was a better option for me. I could have ended up with another c/s.

Luckily it didn't come to that and hopefully (fingers crossed) my baby is ok.

[Talia*L]

Oh Holly your reasonings make perfect sense. What an awful situation for you to be in *hug* I know how you feel about 'distancing' yourself from the pregnancy - as much as I want this baby, I have not allowed myself to picture my baby born. I am focussed on the here and now.

I am so glad that things worked out for you!

[blackduckies]

Thats great you have come to a decision on which way to go with testing and also going private.. just one less thing to worry about. I also have had CS x3 but decided I would take the chance with giving birth if it came to it, also was prepared to have another Cs if needed, apparently it is'nt like a full CS , but I guess it would still hurt afterwards, just the cut is much, much smaller just a tiny pocket.
I could't stand the thought of the baby being dismembered, I wanted to hold her and have photos and footprints afterwards.. But I certainly respect peoples individual choices, these are the some of the hardest decisions that anyone will have to make in their lifetime.
Thankfully it did'nt come to it for me.
One last note i believe that they can give you a drug so that the baby is stillborn, so it does'nt suffer at birth.

[Curly]

A bit late to this thread I guess, but I am in this exact situation right now. I had my nuchal translucency scan earlier this week and it has come back 1 in 60 chance of Downs, 1 in 258 for other trisomy conditions.

I am going straight to amnio because although according to my dates I was only 12w 3d at the time of the scan, the baby was measuring 13w 2d so they are treating me as being already 13 weeks which I am very confused about because this is impossible...I know my dates are accurate - I even had a dating scan at 6 weeks which confirmed it. But this means I can't have a CVS, I have to have an amnio, which I know is lower risk, but it means I have to wait another couple of weeks.

My amnio is being performed at between 14 and 16 weeks which was earlier than I expected...when the OB told me all I could think of was that I was going to have to wait another 6 to 8 weeks.

The doctor performing the procedure has sent me some literature stating that in actual fact their miscarriage rate is far lower than the 1 in 200 (or 1 in 100 for CVS) and it also includes miscarriages that would have happened anyway. This gives me some reassurance but I am very scared that I will miscarry a perfectly healthy baby.

However, a chromosomal disorder is a dealbreaker for both DH and I for various thoroughly considered reasons, not least because I have first hand knowledge of what it is to care for a special needs person, so there was no question that we would go ahead with the test. I will be putting myself on bedrest for the next couple of days following the procedure, even though that isn't really necessary. And I am just trying to think positive in the meantime...after all, there is a far higher chance that this is a false alarm.

But I'd be lying if I said I had slept well since the scan, and I think I have had a permanent headache since then too. Trying very hard to be matter of fact but the tears come when I least expect it.

Good luck.

[csab]

Curly - So sorry you are going through a similar situation. I understand how difficult this time is, having been through it myself, but you need to hang onto hope that all will come back fine with your little baby. Unfortunately you may not sleep well, and be able to relax until the results of your amnio come back. Try though not to think about it if you can, maybe keep yourself busy. Goodluck with your results. hugs

[Talia*L]

Hello all

I just wanted to update this thread - I hate when you search for a topic, find a thread, and never find out the resolution!

We had the CVS last week, 10 days ago now. We went in on Tuesday morning, to Malvern Women's Ultrasound to see Dr Paul Sheckleton.

First, he did a quite long and comprehensive scan, showing us the tiny waving fingers, nose, doing all his checks. He was so lovely and friendly and it was calming and reassuring to see the baby happy and healthy - this really helped me relax a lot.

While he was doing the scan, he checked that we had all of the info on the CVS. A young woman then came in with the massive tray of all the equiptment. Paul then encouraged me to just look at the monitor from this point, and my husband sat by me holding my hand and stroking it. Paul wiped down my belly with HEAPS of alcohol, two times.

He then explained to me that he would inject the local anaesthetic into the skin, which would sting, BUT then he also injects it further in, down a layer. He explained that this can really catch women by surprise, it hurts, and feels like someone is injecting you from inside into your belly. He wanted me to be prepared for this.

So, in went the local, ouch, then ARGHHHHH!!!!! Yep into the next layer, jeepers, it look my breath away, my mouth opened right up, I turned to DH and later he said my face expression looked like someone had stabbed me in the guts! Yep that was the most painful part!

But then, in went the thick long needle, and I didn't even feel it! The whole area was numb, even the deeper layer. I could see the needle going in on the screen. A thinner needle goes down INSIDE the thicker needle, adn it is thrust in and out quite vigorously! Like if you have seen liposuction on the tv, where they jab the needle in and out really quickly - well, that's what the thin needle does inside the thick needle! They do that several times, removing some tissue each time, then reinserting the needle (you can't feel this at all, but I could see it on the screen).

DH said later that the tissue is REALLY pink - not blood coloured, but like pink medicine syrup, almost the colour of a highlighter!

After that was all done, he added some antiseptic to my belly, and put on a bandaid cos the site bleeds a bit. I lay there for 5 minutes, then they took us to a small room with a sofa to rest and have a cup of tea. I was feeling pretty darn fragile at this point. After 20 mins, DH helped me dress and took me home to bed. He took the day off work, and we lay in bed all day sleeping and watching a DVD.

I was pretty exhausted, and really glad to have a full day to sleep. The clinic recommends "resting" for the day, but says you can go back to work if you take it easy?! No way IMO! I took two whole days off, stayed in bed the whole time sleeping. I figure my body is working hard to repair the placenta, I wanted to give it lots of time! I didn't have ANY spotting, and only the slightest of mild cramps, and I do wonder if that was because I just stayed flat on my back for 2 days! I'm glad.

My FISH tests were due the next morning (the Wed) when I was still at home. I called, and they said the clinic was really busy (the pathology clinic) and they wouldn't be in until 5pm!!! Arghhhh that was the worst day, the waiting! But at 5pm, they told me over the phone that we are CLEAR for trisomy 13, 18 and 21! WOOHOO!!! And we are having a little GIRL!!!

So all in all a good result. But so, so stressful (I got quite worked up the second day waiting in bed all day for the results) and pretty ouchy IMO! Not in a hurry to get that done again.

The area bruised quite badly, and 10 days later there is still a faint bruise. But I think Paul Sheckleton does a really amazing job. And now we can relax and enjoy the pregnancy (14 weeks now).

I hope that that helps some people one day!