Not sure what to do. Any advice?

[twinkletots]

I am currently around five weeks pregnant and struggling with an ongoing debate in my head about whether or not to do prenatal testing.
The interesting part about all this is that I currently have a 14 week old baby!! Who also has down's syndrome.

I had prenatal screening with my last pregnancy (combined nuchal fold and blood tests) which can back low risk. There were also no soft markers found at 20 week anomaly scan despite the fact she has a hole in her heart which requires open heart surgery.
Needless to say when she was born my husband and I were in shock. I am horrified to admit that we thought we would never love her and it felt like the bottom had fallen out of our world.

I am delighted to say that 14 weeks on we absolutely adore her and can't get enough of our gorgeous angel.
However, I am now in the situation of being pregnant again am automatically classed as high risk for another chromosomal abnormality. The only way to know for sure would be to get invasive testing such as CVS or amniocentesis. I have had two miscarriages in the past so I am really wary of this but at the same time I feel like I need to know.

Love my girl to bits but don't think I could handle the shock if it happened again and feel the need to be prepared.

Any thoughts?

 

[Scout]

I find that this is a completely personal decision and think everyone should do what they think is best for themselves and their family. There is no right or wrong, should or shouldn't.

Personally, my personality is such that I have a need to know things. I find that knowledge gives me power...the power to make the most informative decisions I can make. I had a high a risk 1:11 for trisomies 13, 18 and 1:17 for downs. It seems a lot of people think that if you do further testing it means you'd consider terminating and that's just not the case. I knew, whatever the outcome, that I'd not terminate, but, like you say, I had a need to know so I could prepare and so my doctors would be prepared as well in case my baby needed immediate intervention. Fortunately, in the US we have to option of non invasive testing and that's what I chose..the MaterniT21 test. The statistics on m/c from amnio and cvs are national averages. I think, if that's what you are worried about (and who wouldn't be? right..I was too) you can ask for the average specific to the doctor/hsp where you'd be having it done and that might put your mind more at ease.

Best of luck whatever you decide.

 

[Krissykat1006]

I am currently around five weeks pregnant and struggling with an ongoing debate in my head about whether or not to do prenatal testing.
The interesting part about all this is that I currently have a 14 week old baby!! Who also has down's syndrome.

I had prenatal screening with my last pregnancy (combined nuchal fold and blood tests) which can back low risk. There were also no soft markers found at 20 week anomaly scan despite the fact she has a hole in her heart which requires open heart surgery.
Needless to say when she was born my husband and I were in shock. I am horrified to admit that we thought we would never love her and it felt like the bottom had fallen out of our world.

I am delighted to say that 14 weeks on we absolutely adore her and can't get enough of our gorgeous angel.
However, I am now in the situation of being pregnant again am automatically classed as high risk for another chromosomal abnormality. The only way to know for sure would be to get invasive testing such as CVS or amniocentesis. I have had two miscarriages in the past so I am really wary of this but at the same time I feel like I need to know.

Love my girl to bits but don't think I could handle the shock if it happened again and feel the need to be prepared.

Any thoughts?

I have a 10 year old son with Down Syndrome so I understand. I am not doing an amnio though...It took me a long time to be mentally ready to have another baby. Mainly cause of the fear of having another special needs child. But I look back on how I have done since having him and I know that even if this baby has Special Needs too I can do this. It's not an easy road...but it has been the best part of my life so far

And 5 weeks pg with a 14 weeks baby!!?? Girl you wasted no time lol

 

[twinkletots]

Thanks scout,
I am the same and need to know things. Think that's one of the reasons we didn't cope well when my last daughter was born as we had no info in advance. I think you pretty much summed up what I was thinking!

I know krissykat, we must be crazy!! I also have a high energy four year old so its going to be an absolute riot round our house, ha ha! I do worry how I would cope with two kids so close in age let alone two with special needs.
I can't lie, the thought petrifies me.

How far pregnant are you now?

 

[Eternal]

I believe there is blood work you can pay privately for which gives a 99% accuracy, no idea how much it costs! but personally given your history I'd be inclined to research it and probably do that.

Is Down syndrome hereditary? I was always under the assumption it was just a fluke, however if still go with it. One of mine had a rare cord defect, all was fine no lingering problems, but this time I'm worried about it despite the fact it's not hereditary.

 

[twinkletots]

Eternal, downs syndrome is just a random genetic event but once you have had a baby with it, your chances of having another with downs syndrome go up slightly compared with ladies who haven't had a baby with downs syndrome. It's only a very slight increased chance and no idea why that's the case.
I think I have heard about the blood test you are talking about but thought it was only available in US? I will look in to it thanks

 

[aspiringmum]

Thanks scout,
I am the same and need to know things. Think that's one of the reasons we didn't cope well when my last daughter was born as we had no info in advance. I think you pretty much summed up what I was thinking!

I know krissykat, we must be crazy!! I also have a high energy four year old so its going to be an absolute riot round our house, ha ha! I do worry how I would cope with two kids so close in age let alone two with special needs.
I can't lie, the thought petrifies me.

How far pregnant are you now?

Twinkletots: I posted this on another thread but thought it would be helpful for you! I have a good friend who has been in your exact same shoes, who also happens to be an author. She wrote a book about pre-natal testing (after she had her children, the first of whom has Down's syndrome and the other two are "typical") and the things to consider when deciding about testing. Not that you have a lot of free time with all the little ones in your house, but if you have a chance you should definitely read her book "A Good and Perfect Gift," which details everything from the surprise at birth to going through the stages of grief to falling in love with their sweet daughter, who also happens to have Down's syndrome. Here's the link to the two books on Amazon. (I promise I'm not her publicist!!)

https://www.amazon.com/Every-Woman-...d=1383777534&sr=1-3&keywords=amy+julia+becker

https://www.amazon.com/Good-Perfect...d=1383777534&sr=1-1&keywords=amy+julia+becker

 

[Eternal]

Eternal, downs syndrome is just a random genetic event but once you have had a baby with it, your chances of having another with downs syndrome go up slightly compared with ladies who haven't had a baby with downs syndrome. It's only a very slight increased chance and no idea why that's the case.
I think I have heard about the blood test you are talking about but thought it was only available in US? I will look in to it thanks

No, in fact I read a news article this week saying different NHS trusts are testing it, but said for now most people would have to pay private.

 

[Eternal]

https://www.bbc.co.uk/news/health-24755589

 

[Krissykat1006]

Thanks scout,
I am the same and need to know things. Think that's one of the reasons we didn't cope well when my last daughter was born as we had no info in advance. I think you pretty much summed up what I was thinking!

I know krissykat, we must be crazy!! I also have a high energy four year old so its going to be an absolute riot round our house, ha ha! I do worry how I would cope with two kids so close in age let alone two with special needs.
I can't lie, the thought petrifies me.

How far pregnant are you now?

I'm half way through 6 weeks

It's ok to be scared, I am trying to keep all my what ifs on the back burner unless the Dr gives me any reason to be concerned. Doesn't mean they will stay there lol

 

[Krissykat1006]

I believe there is blood work you can pay privately for which gives a 99% accuracy, no idea how much it costs! but personally given your history I'd be inclined to research it and probably do that.

Is Down syndrome hereditary? I was always under the assumption it was just a fluke, however if still go with it. One of mine had a rare cord defect, all was fine no lingering problems, but this time I'm worried about it despite the fact it's not hereditary.

There was no one in mine or my husbands family with Down Syndrome, its just one of those things that happened. There are 3 types of Down Syndrome, one which is Translocation, if your child has Translocation the parents chromosomes are studied cause then the parent is usually the carrier and then the chances of any child they have having down syndrome is a lot greater. Trisomy 21 is the more common form of Down Syndrome where the 21st chromosome doesn't separate then replicates itself in every cell. (this is what my son has) Mosaic is the third and similar to Trisomy only it doesn't replicate in every cell, just one.

Before having my son I wasn't even aware there was 3 types of Down Syndrome...so my mind was pretty blown lol

 

[twinkletots]

Aspiring mum, someone else put me on to the book a good and perfect gift and I just ordered it the other day!! It gets great reviews.
Eternal, I just looked in to that test u mentioned. It costs £750. Eek!

Krissykat, I wish you a happy, healthy and stress free nine months!!! The one time we really need wine and can't have it

 

[Eternal]

Wow! Didn't expect it to cost anywhere near that amount! Was think £250 max!