Has anyone opted for amnio even if nuchal/blood results are good?

[corgikelly]

I just got back from having my 12-week nuchal scan and bloodwork, and am looking at a week's wait for the results. (

But the OB said something interesting -- the amnio is at the discretion of the parents. So even if the test results are good (i.e., less than a 1 in 250 risk for Down syndrome), if we ask for the amnio, they'll do one.

I am TERRIFIED of having a special needs baby, for many reasons...and my instinct is to obtain as much information as possible on the future health of the baby. I know that amnio lets you evaluate for a broader risk of chromosomal disorders than just Down syndrome, but I'm not exactly sure which disorders are involved.

Trying desperately to weigh my potential for second-guessing myself and negative outcomes: have an amnio, the results come back normal but I have an amnio-induced miscarriage; or don't have the amnio and have a child born with a disorder that could have been picked up by amnio.

So just wondering if anyone out there has been in, or put themselves in, this position and what decision they made...

Interestingly (or shckingly), in hunting around the internet, I've found "amnio risk of miscarriage stats ranging from 1 in 100 to 1 in 600, which doesn't help the decision-making process much.

yes, I did.

I had my first baby in Canada where everyone over 36 is offered an amnio.

Came back to UK, and had a dating/nuchal fold scan at 12 weeks as is the norm in my area (they have scrapped the triple blood test for those who have had nuchal).

The midwife/sonographer informed me that they have a success rate of 80% - she was very bullying and tried to counsel me on this, despite this being totally outwith the remit of her job. When I pointed out that 80% means they effectively miss 1 in 5 women, she became very stroppy.

I still insisted on an amnio and got it. The consultant was very understanding that I wanted the gold standard test.

In my hospital, a lot of the midwives are also trained in sonography. The same set of nurses missed a placenta praevia on 3 subsequent scans.

The only thing I would point out to you is that the presence of a chromosomal defect does not tell you anything about the severity of the physical defect in the baby. In other words, you cannot really tell if you're going to get severe or mild Down's (although further scans at 20 weeks would start to pick up heart defects etc, but that gestation would make termination pretty hard)

Amnio miscarriage rate depends on each individual operator. Ask your Obs dept - they should audit the rate for each consultant.

Also, if there is something wrong that may contribute to an apparent amnio-related miscarriage. Ditto, if you have underlying uterine problems anyway.

Hi, Not me, and if you were not considered high risk I expect you would be asked to pay for it.

The risk of the amnio is one thing (I think the risks are lower than quoted TBH). The main thing you should think about is could 'Could I terminate if the result is not so good?' and there are many many conditions, some serious, some not that cannot be detected by screening. So while you may have peace of mind on the 3 major trisomies you cannot be guaranteed a healthy NT child. Pregnancy does feel scary and like so much can go wrong but most people have a baby to love at the end and that is what matters (IMO).

I would wait until you get your results before making any hasty decisions.

I would add that 'a special needs baby' covers a wide range of possibilities, many you have probably never heard or dreamed of. No one test can put your mind at rest. No-one can guarantee a happy ending for you and you will drive yourself mad trying to 'obtain as much information as possible'. Don't go looking for trouble where there is none. Relax and enjoy your pregnancy, what will be will be and you have a lifetimes worry about this little one ahead of you, welcome to parenthood!

Can I ask how old you are corgi?

I'm 37. First pregnancy.

I think I'd thought that amnios were almost mandatory, or at least par for the course, for everyone over the age of 35 here (i.e., Belgium). In a way, that was a relief, because it meant it was a decision I wouldn't have to make!

I really think we should be at a point in our technological development where they could just wave some device over your belly and say, voila, here's everything you need to know about your baby's health. Oh, well.

If you want to know definitely and quickly then you could opt for CVS. Miscarriage rate are a bit higher than for amnio, again they differ according to who's performing it. The plus side is that you would get the results for Downs, Edwards, Patau etc in 2 days and the rest of the results in 2 weeks.

Like another poster said - many conditions will not be picked up by amnio. And some conditions/problems may not be present for a while. And what the amnio might pick is Downs without attendant medical problems and your child could live a long and happy life. Personally I wouldn't take the risk unless you have a family history which might indicate it (I had first baby at 37, second at 38).

I wouldn't take the risk having amnio that is.

I've had amnios with both of my pregnancies (at 35 and 38) - the second time as I had an increased risk of the serious chromosomal disorder Edwards Syndrome. Everything was fine, both times.

I would not however have had the amnio if I had no increased risk.

A friend of mine had an amnio before getting her serum screening results back. She was 34 and the cut off date for "age related optional" type amnios is meant to be 35 at our local hospital but she talked the consultant into doing it. She felt she couldn't take any rist, even a 1 in 20,000 risk of having a baby with Down's.

An amnio will pick up any chromosonal problem. So that will include many syndromes such as Turners, Edwards as well as any problem which isn't a syndrome as such.

Please rememebr though that a clear amnio is no gurantee of having a baby without special needs. There are other non-chromosone related conditions that can affect babies. Good luck whith whatever you decide.

Unless you ask for specific tests you will not be able to find out whether you have a 'special needs baby' anyway. You can test for DS, trisomy 13 and 18 and if the test is carried out specifically things like CF.

My 'perfect' baby was found to have severe SN aged 2 after an apparently normal 18 months of development. Now aged 9 he needs are significantly greater than any child I have met to date with DS (although considerably less than children with trisomy 13 or 18). There isn't an antenatal test that can pick up his condition.

By all means you can ask for an amnio or CVS to put your mind at rest for specific conditions, but it can't tell you that your baby is OK. Sometimes it can confuse matters by picking up things that may or may not be an issue (mosaic DS for example, or XO, or XXY).

my friend had cvs despite a good nuchal result
she had it the same day
i considered it a risk too far tbh but chacun a son gout and all that

JimJams has pretty much put into (better) words what I wanted to say.

So much I want to add but probably best I don't.

Just to add to Stripeys post - an amnio won't pick up any chromosomal problem. It will pick up major rearrangements/deletions etc, but not necessarily minor ones.

If you go for it without any specific risk factors I think it would probably be a good idea to ask in advance what the results will be able to tell you. For example I don't think an amnio would give you the result of a Frag X test (although someone who works in a human genetic lab might be able to correct me on that) unless you asked for a specific Frag X test. Frag X is the most common inherited cause of learning disability.

Thanks to everyone for their input. I've been doing a lot of reading, but am still undecided. Of course, we'll wait for the nuchal screening results before making any decision.

Thomcat, I'm betting I know the direction you wanted to go in, having read and admired many of your posts about your daughter. I would like to be the kind of person who would gracefully handle both uncertainty and whatever might come my way -- but I know I'm not. Not in other aspects of my life, and certainly not in the area of motherhood, which I've come to late and after much, much soul-searching and trepidation, and with my heart still in my mouth.

Trust me, I feel horrible and guilty even saying aloud that I don't know for sure that I would never chance the risk of a miscarriage because of an amnio.

I had an Addmark test (combined nuchal scan and triple test) done at a private hospital in the UK when I was 13 weeks pregnant and the risk factor came out as 1 in 1100. I also had an NHS triple test done at 16 weeks of pregnancy and the risk factor was 1 in 10 ! I am now 18 weeks pregnant and have just come to know the result of the NHS test. I am totally confused. How can the two results be so different? Which one should I rely on? I am nearly 37 by the way and this is my first pregnancy.----by Ch71

Corgi - you shouldn't feel guilty for saying that. Its better to be honest with yourself about what you think you would want to do. Its a personal choice and there is no right or wrong answer.

As others have said, amnio won't pick up everything. My niece is a SN baby and her condition went undiagnosed until she was a year old. Putting yourself through the tests is no guarantee. That's why I haven't bothered with any of them!

But, only you can make the decision. If you really want to have all tests possible and you think it will help to put your mind at rest then IMO you should do it.

I think that something it's worth realising is that very few people dealing with children with SN have any sort of choice. They're not brave, wonderful people who have chosen to take on some sort of burden and bear it gracefully (although many would argue about the burden aspect anyway) - they just had a child, the child had SN and so they've had no choice but to get on with it. IN ds1's SLD/PMLD school I don't know anyone who knew their child would have severe disabilities before birth - many didn't until the time of their birth or afterwarda anywa. In the same way that someone who is widowed has no choice but to get on with it etc etc.

Ultimately we don;t have that much control over our health or the genetic lot that we or our family get given.

If you feel you can't manage uncertainty I would really advise counselling, never mind what you decide about the testing I agree with babyignoramus there) because even parenting a supposedly straightforward NT child is full of uncertainty. DS2 and DS3 have had their fair share of things to be dealt with about which we could do nothing (seizures, croup, suspected asthma which turned out to be whoopong cough etc). Parenting and bringing up a child is something that you cannot be in full control of- you just can't.

Corgikelly, that is extraordinary that you posted your question today, as I was about to post exactly the same one!

I´m now about 14 weeks pregnant, I am 39 years old. My nuchal fold scan + blood test result was low risk: 1 in 579. But that is much closer to the 1 in 250 cut-off point for low-risk than I had hoped for. I don´t have any risk factors.

Before, I was adamant that if my nuchal came back as low-risk, I wouldn´t have an amnio, but now I think I would prefer to know for sure, at least about Down´s (I take other posters´ points about the amnio not picking up on all problems), as the uncertainty (nuchal tests are not as definitive as an amnio - I prefer to know, yes or no) is not something I can cope with for another 26 weeks...

But then, like you, I´m also thinking the risk of miscarriage (1 in 100, or less from what I gather here) is way higher than the risk that the baby has something wrong with it. So is it worth risking a mc to find out?

And if I lost the baby (or had a termination), for eg, and then i got pregnant again, I would probably have an even higher risk factor, cos of my age. I think I am losing all sense of reason here.

Sorry Corgi, no help to you, but at least you know someone else is in exactly the same boat!

fififlores, it's always reassuring to know someone's in the boat with you...

I found a couple of articles online that I thought were quite interesting, including the comments section below each (where the MD responds to specific reader questions). Maybe they'll be helpful for you.

www.healthline.com/blogs/pregnancy_childbirth/2007/04/risk-of-amniocentesis.html

www.healthline.com/blogs/pregnancy_childbirth/2007/04/amniocentesis-q.html

I'm having a similar dilemma - I'm 35, 17+5 weeks, this is DC2 and I got my triple test result yesterday 1 in 280, which is classified as a low risk result, but doesn't seem very low to me, especially if 1 in 250 is a high risk result? My hosp doens't offer nuchal scans on NHS, so we didn't even think about having one.

Anomaly scan isn't for another 4 weeks and next mw appt is not till 24 weeks - was fine when I read the letter when i got in from work yesterday, but after pondering it, I am know slighlty worreid and wondering what I should do.

thanks for those links, Corgi - reading about how they do the procedure (2nd link) has put me right off! i am so all over the place at the moment with my preggie hormones and mood swings - one minute iñm convinced i should have an amnio , the next convinced that I shouldn´t. What a nightmare. Anyone else as emotionally unstable??!!!

yes, the advice from the dr was very interesting - but he seemed to be against the idea of an amnio in the majority of cases.