Bloods and screening tests for abnormalities?

[Mummy2Angel.]

So after reading threads and posts with many views on this i'm a bit confused about what is best

As a lovely lady mentioned in PAL it can pick up other things apart from downs, so im not sure whether to have them or not? I wouldnt want my child to be in pain but i wouldnt want the worry and stress with all the tests, and i wouldnt terminate unless it was best for the baby. So i'm not really sure what is best to do? I dont want to start an arguemnet etc....would just like views and opinions and maybe some advice would be nice

 

[crazy mummy]

I had my done but only so if anything is wrong I could prepare myself, I wouldn't terminate for something like downs but I would like the opportunity to find out although I know you don't always find out, at the hospital I go to they check for it at the 12 weeks scan then in the routine bloods done at the same time so I just had them done I won't think about it now until I get a letter in the post

 

[Peril]

There are several things that they can do, and they can be done without harm to your baby, to see if the riskier tests do need doing.

1) At the 12 week scan they can measure the nuchal translucency (which is the fluid on the back of the neck) The thickness of this indicates if there is a risk of downs or other chromosomal defects etc.

Also at the 12 week scan they will measure the LO. With my last one (it had chromosomal problems) the body etc was measuring short, which is another indication of problems. Also they can look for deformities of the hands, feet, arms, legs, head etc to see if there is any indication of a problem.

2) If the scan raises concerns, then they can do blood tests, which give a better indication of if they may be a problem.

3) Based on the results from the above they might then offer you an amniocentesis. This has a 1% risk of miscarriage. But can confirm whether there is or is not a problem for sure!

I had to go thru all of this on my last pregnancy, and i am grateful i did. I found out at the earliest opportunity that there was a problem and could make a decision.

I have had the NT and the bloods done on this one, which thankfully have shown that i am not at high risk.

Its a personal choice and i hope that the information i have given helps xxx

Best wishes and good luck xxx

 

[Katie Mc]

Hi I started the other thread over not having the downs blood test and I didnt know they check for other things at this blood test as well. So now im even more confused, I really thought this blood test was just for downs as my OH did. If it turned out my child had a really bad illness in which it wouldnt have any type of life id have to reconsider my options for the sake of my child.

So were back to the beginning now with making our decision.

 

[LucBumpy10]

I'm having mine done, purely to prepare myself! Do what you think is best and what you feel is right.

 

[Peril]

The blood tests indicate other genetic / chromosomal problems, such as Edwards Syndrome (trisomy 18) and Patau's syndromes, these are far more serious than Downs.

I am very grateful that they found out my last was one of these at an early stage. Its a personal choice and a devastating one to make, one i still haven't fully come to terms with. However, i am grateful that i was given all available information so myself and DH could take our choice.

Hope that this info helps, i don't want to scare, but after my experience i think others should know that it is not just Downs that is a risk and can be detected xxx

✿*ﾟ‘ﾟ･✿ HUGS ✿*ﾟ‘ﾟ*✿

 

[Katie Mc]

The blood tests indicate other genetic / chromosomal problems, such as Edwards Syndrome (trisomy 18) and Patau's syndromes, these are far more serious than Downs.

I am very grateful that they found out my last was one of these at an early stage. Its a personal choice and a devastating one to make, one i still haven't fully come to terms with. However, i am grateful that i was given all available information so myself and DH could take our choice.

Hope that this info helps, i don't want to scare, but after my experience i think others should know that it is not just Downs that is a risk and can be detected xxx

✿*ﾟ‘ﾟ･✿ HUGS ✿*ﾟ‘ﾟ*✿

Thankyou for this as I have been looking for what else they test for, this should be made more clear like downs syndrome is because ive never heard of it. Im so sorry youve been through this.

If you dont mind could I ask what are the odds of these chromosomal problems occuring are.

 

[meow951]

I didn't realise that they tested for other problems than downs either!

In my NHS book it only mentions downs.

Downs wouldn't be a problem to me but after reading up on Edwards syndrome etc i realise they are much more serious and can have huge complications for baby.

I would love a baby whatever but i don't know how i'd feel about bringing a baby into the world who's short life would be filled with pain.

I'm having second thoughts about nuchal scan etc now too.

 

[Peril]

I was told that they are 1-1000. I believe my maternity unit said that they see 3 or 4 a year, and thats just at my hospital.

I also had never heard of Edwards, Patau or Triplody until i had my scan / bloods done, and i also feel that these should be more talked about / widely known.

I figured as i am only 32 i was a low risk, was a huge shock. They think that the triplody was caused by 2 sperm fertilising one egg, nothing anyone did or could have done!

Again, i hope this helps, and isn't scaring xxx

 

[debgreasby]

It really is a confusing time... you never expect to have these kind of problems. I was only 34 and had 4 perfectly healthy children, so Charlie being diagnosed with Edward's was a total shock.

I also don't like to scare people, but hope that by sharing my experience i can help.

xxx

 

[meow951]

I really appreciate it when people share their experiences!

It doesn't scare me, i think it makes things less of a shock if they do happen.

I never knew miscarriage was so common and thought oh i won't happen to me i'm only 19 and then before i knew it i'm having a 12 week scan and being told my baby died.

It's better that people talk about these things because then you can get all the facts and make a proper informed decision.

My heart really does go out to you peril and deb x

 

[Peril]

Thanks Meow. Its not been easy... and i long for the days when i can go back to 'pregnancy innocence!'

Its unfortunate, but a lot of these things are more common than any of us would like.

✿*ﾟ‘ﾟ･✿ HUGS ✿*ﾟ‘ﾟ*✿ and best wishes xxx

 

[Claudia123]

The first trimester in general is an extremely scary time. With the risk of miscarriages, and all of the genetic testing, it is difficult.

We decided to do the testing because it's not invasive - blood test and an ultrasound. We were given a greater than 1 in 10,000 chance of having down's and are thankful we did the test. It has really put our mind at ease. Good luck!

 

[Bluetomato]

I have had nuchal fold testing with Harrison, Dom and Squishy, but never had it with Erin as it wasn't offered to me and I thought I wouldn't need it. As it was if she had had the nuchal, it probably would have shown that she had an enlarged nuchal fold which needed further screening. Instead we found out at a scan just before 20 weeks that she had already died. I had screening in all my future pregnancies as I needed to know if my baby was well or not, and if it had showed any problems then I would have chosen to have an amnio or cvs, as I couldnt get to 20 weeks again then find out that our baby had already left or was very ill. Like the other have said, it isn't just downs these tests look for, its also Edwards and Pataus and the nuchal will sometimes flag up other chromasomal abnormalities (which is what Erin died from, she had Turners syndrome).
Its a difficult decision to make, and I hope I havn't scared anyone with what happened to me x