Positive for Downs

[secretbaby]

My consultant told me the blood test results can mean other stuff - not just downs syndrom he said that it may be to do with the placenta (nothing bad but just gives off a higher reading than normal). I am 1 in 15 risk - My consultant is going to do my 20 week scan to look for soft markers - again not conculsive but may be a good indication.

I can not risk the amnio as I had pprom last pregnancy and lost my baby due to this (waters going early) so I dare not mess with the fluid.

I would not take 'action' (I know we are not allowed to mention the other word on here). so the amnio is irrelevant for me anyway.

I posted when I first got my result and spoke to some lovely ladies on here who have children with down syndrome and I looked at the down syndrome association web site and it did make me feel much better and made me much better informed.

I know that when I got my results I was so shocked it took me a while to put things back in perspective - most of all I realised that the number i was given was just a 'chance of' until we know for sure I can't plan or think about anything. One thing I learnt through loosing Billy is though, that we can cope with things, unexpected, or life threatening/chaning, we don't want to have to cope with things like that but we can.

 

[m22b]

With this pregnancy I had a risk of 1:18 for Down Syndrome after the NT scan and the bloodwork. The u/s itself was perfect(measurements right on, neck fluid measurement within normal ranges, nasal bone present), but the bloodwork raised my odds to 1:18. We weren't concerned but we have bigger issues to worry about in regards to this pregnancy and genetics. We went for a CVS(we had one with our previous pregnancy) but this time the doctor could not gain safe access to withdraw a sample so we waited a couple of weeks and had an amnio. My unborn child does not have Down Syndrome or Trisomy 13 or 18. However we are still waiting to find out the remainder of the genetic results from our amnio.

The bloowork and u/s are just screenings. Only an amnio or CVS will give you definitive results. However, if those options(at this point you are too far along for a CVS) worry you ask for a Level II ultrasound. It's a more indepth u/s(you should have one at your 20 weekish anatomy scan anyway). If hard markers are found you could opt to undergo further testing.

 

[mouse_chicky]

Grrr. I had a really long reply, but my computer ate it. Anyway, thanks so much ladies for your thoughts and discussion. I have a lot of thinking and research to do, but I know it'll be okay. No matter what, I would never end the pregnancy. I love my baby so much. It's great to hear all sides---stories of high risk cases turning out to mean nothing and of the blessings of DS children. I really do believe that God's will is perfect. It's going to take some time to decide about the amnio, but I'll keep you posted. Thanks again. It's wonderful to have this kind of support.

 

[moomin_troll]

Good luck with making ur mind up, this is one of the reasons i didnt have the blood test in the first place as i could never have the amnio test. altho i no someone who did just because her child was on the small side which i never understood :/ but her baby wasnt effected by the test

 

[PrayinForBaby]

I got a call today from my doctor who said my 2nd trimester lab tests came back positive for Downs Syndrome. She said that this didn't necessarily mean anything but I have to go to a specialist now for more tests. She told me not to panic, but I can't help but be a little upset. Everything up until now has gone so well. I also have the option of doing an amnio, which I think is way too risky. Is anyone else going through this or had a positive blood test that turned out fine?

My quad test came back negative for everything except downs...if my baby's measurements were on point with my EDD my result was 1:46, if it went off her actual measurements with her real due date based on ovulation it was 1:146....and my baby is completely healthy. I refused the amnio, but thats a personal decision I won't comment on...but try not to panic. Do what you feel you need to do!

 

[miamia34]

Hi just wanted to let you know my experience.... Im 34 now got DS 16 and DD 8 blood tests came back fine with them so presumed they would with this 1, Well they didnt they rang me and said i was very high risk of downs but spina bifida fine. I was in total shock and couldnt stop crying! Me and OH had a very long chat that evening and decided to go ahead with an amnio as thats the only way of finding out, we felt we had to know. Had amnio done 2 days later wont lie it wasnt a comfortable experience but then i hate needles! I know they say there is a risk with amnio but it is so slim its a 1% chance, i just made sure i rested up for the next 48 hours like they said. They couldnt get enough fluid as baby moved, so i had to wait 10 days for results, Luckily i had our reslults came back fine and found out we were having a girl as amnio is 100% accurate on sexxing of baby. At my 20 wk scan they noticed somethig showing on her kidneys so was referred to FMU where if i hadnt had amnio he was going to say he wanted me to have 1 for that also! A decision like this is hard but its purely a personal choice. Feel free 2 PM me if you wana chat hunxx

 

[Lil-woowoo]

My youngest sister has downs and while i was pregnant i declined all tests. I believe its up to every individual whether they want the tests or not and would not disrespect anyone for their reasosns. But what ive read through this thread is people being relieved their kids are NORMAL??? Ok now define whats normal please, arent kids with downs normal ???? My sister is perfectly normal as you may call it, just cause she has a disability doesnt mean she isnt.

 

[lottie77]

My youngest sister has downs and while i was pregnant i declined all tests. I believe its up to every individual whether they want the tests or not and would not disrespect anyone for their reasosns. But what ive read through this thread is people being relieved their kids are NORMAL??? Ok now define whats normal please, arent kids with downs normal ???? My sister is perfectly normal as you may call it, just cause she has a disability doesnt mean she isnt.

Hi yes I agree babies with downs , spina biffida etc are as normal as anyother child as you say they have a disability and it is more important that they are healthy no matter if they are born with or without a disability alot of people do not have any experience with children or adults with disabilities and I don't think anyone means any disrespect , I am lucky I care for adults with disabilities including downs and enjoy every minute of it

 

[blondey]

I just wanted to say I wish you luck in whatever path you decide to follow.

Personally I don't agree with what has been said previously about not seeing the point of having the bloods/scan if you aren't prepared to have the amnio. Just because someone is not willing to go through with the amnio doesn't mean that they don't want to know whether they are high risk, making it not such a big shock, should their baby be born with down syndrome. They can then at least be partially prepared should the baby be born with it.

I did have the bloods and nuchal scan done, and my risk factors came back normal. However, hand on heart I cannot say what I would have done should the risk have come back high. It would have been something my husband and I would have dealt with when the situation arose.

I am in completely agreement that children with downs syndrome can bring so much joy and happiness to people's lives but in many circumstances it is also coupled with extra care, time and finance, which some people, through no fault of their own cannot do/give. I have never been in these people's shoes, but I respect them for their difficult decision they make, whatever it may be.

Good luck xx

 

[Lil-woowoo]

My youngest sister has downs and while i was pregnant i declined all tests. I believe its up to every individual whether they want the tests or not and would not disrespect anyone for their reasosns. But what ive read through this thread is people being relieved their kids are NORMAL??? Ok now define whats normal please, arent kids with downs normal ???? My sister is perfectly normal as you may call it, just cause she has a disability doesnt mean she isnt.

Hi yes I agree babies with downs , spina biffida etc are as normal as anyother child as you say they have a disability and it is more important that they are healthy no matter if they are born with or without a disability alot of people do not have any experience with children or adults with disabilities and I don't think anyone means any disrespect , I am lucky I care for adults with disabilities including downs and enjoy every minute of it

Thank you lottie, hope you dont think i was being a bit bitchy there lol. I know a lot of people who maybe havent came across a child with downs or any other disability and maybe dont know how to define it but the work normal does really get to me. I dont know how i would react if id been told my child had downs and can i honestly say i could carry on with the pregnancy, well that i would never know unless it happened. As ive stated i would never influence or make anyone feel bad on the choices they make with their own bodies and would never think badly of someone who couldnt continue with a pregnancy due to disability. x

 

[lindblum]

My mum was told she had a 1 in 40 chance of my youngest sister having down syndrome and was advised to terminate.
Lil sis just had her 15th birthday and is at the top of her class. She does not have down syndrome.

Also, i recently read this and just thought you might be interested,
https://www.babyandbump.com/special-needs/328443-my-lo-has-downs-syndrome-advice-needed.html

wishing you all the best x

 

[mummy3]

My second pregnancy odds were 1:4, third pregnancy 1:5 so very high risk, I was only 24 and 26. I had a CVS and it came back negative and they don't have DS or any of the others tested for.

However my son is seeing a geneticist as he has some problems, he has kidney disfunction as well as some form of dwarfism, and brittle bones. He has no problems hitting his intellectual milestones. I don't know if this would have affected the test. My eldest came back as low risk.

Personally I did the CVS to be prepared, I would have no problem having a child with a disability

 

[Hunnybear]

I would think about what you would do and act accordingy. I just went through the nuchal scan and I'm doing the blood tests and if we get back high risk, we will do the amnio. My husband an I have talked and we will taken action as needed based on the results there. If I get low risk on the soft markers I will definitely skip the amnio as the risk isn't worth it. It's a difficult and personal decision so just think things through before acting.

 

[mouse_chicky]

My youngest sister has downs and while i was pregnant i declined all tests. I believe its up to every individual whether they want the tests or not and would not disrespect anyone for their reasosns. But what ive read through this thread is people being relieved their kids are NORMAL??? Ok now define whats normal please, arent kids with downs normal ???? My sister is perfectly normal as you may call it, just cause she has a disability doesnt mean she isnt.

Hi yes I agree babies with downs , spina biffida etc are as normal as anyother child as you say they have a disability and it is more important that they are healthy no matter if they are born with or without a disability alot of people do not have any experience with children or adults with disabilities and I don't think anyone means any disrespect , I am lucky I care for adults with disabilities including downs and enjoy every minute of it

Thank you lottie, hope you dont think i was being a bit bitchy there lol. I know a lot of people who maybe havent came across a child with downs or any other disability and maybe dont know how to define it but the work normal does really get to me. I dont know how i would react if id been told my child had downs and can i honestly say i could carry on with the pregnancy, well that i would never know unless it happened. As ive stated i would never influence or make anyone feel bad on the choices they make with their own bodies and would never think badly of someone who couldnt continue with a pregnancy due to disability. x

I agree with you both. Every child is different and special. As a teacher, I have worked with some special needs children, but not many. I only hope I can be the kind of mother I need to be regardless.

 

[Nessicle]

My youngest sister has downs and while i was pregnant i declined all tests. I believe its up to every individual whether they want the tests or not and would not disrespect anyone for their reasosns. But what ive read through this thread is people being relieved their kids are NORMAL??? Ok now define whats normal please, arent kids with downs normal ???? My sister is perfectly normal as you may call it, just cause she has a disability doesnt mean she isnt.

I don't think anyone meant any disrespect

My auntie has severe DS, she couldnt walk til she was 12 and wore nappies until she was 15 and she still can't wipe herself after going to the toilet or get herself dressed. She is blind, practically deaf, thyroid issues, her face is sunken in and she has no teeth, etc the list in endless, but because of the very special care my gran gave her she is currently 50 years old which is a tremendous age for a person with DS, sadly I don't think she will live for much longer. She has unfortunately had a really rough deal in life and I wouldnt say this was "normal". I'm sorry if that offends anyone but I personally would hate her to be treated "normally" in life as that would mean she wouldnt get the care she needed or the special love and attention she requires and deserves. And I am someone who has grown up with someone with a disability - we spent a lot of time with my gran and my auntie growing up.

Having a disability of course doesnt make people aliens, they are normal people of course but they should quite rightly be treated in a special way that a "normal" everyday person like me or you doesnt need to be.

 

[Caezzybe]

Unfortunately, screening tests cannot give a definitive answer and if anybody wants to know for sure, they should have the amnio. I have a lovely little boy who was diagnosed with Down's the day after he was born, having had a 1 in 560 chance predicted by blood tests and nuchal translucency. However, I wouldn't have had amnio even if I had a high risk, I wouldn't risk the 1 in 100 chance of miscarriage in any pregnancy. If I do manage to get pregnant again, I would take the screening but not amnio or CVS (even though I will be offered it next time) as I will love any child of mine regardless of Down's or not.

It just makes me wonder though how wrong screening tests are in general, how much worry is caused unnecessarily and how many surprise conditions arise postnatally

 

[freckle]

Caezzybe - congratulations on the birth of your wee man - he looks gorgeous!
You are right screening will never give a definitive answer, and the odds are what they are. So of course there is a huge number of false positive (positives = increased risk not diagnosis), hence why they say it's a 1 in 50 or 1 in 100 chance etc but of course only one of each group will be positive for DS that means most of thoseare just positive for increased risk. Even when you are not given increased risk, as in your situation, they still stated a risk of 1 in 560, so the screening test isn't wrong - someone has to be that 1 in 560.... I find it appalling how these tests are so badly understood and explained by soo many professionals and I think that is what leads to so much unnecessary stress on us poor mums...

Also just wanted to say these days, with experienced people performing amnios the risk of MC is much much lower than 1 in 100. Those statistics are very old, and many improvements have been made in the size of needles and the way in which amnio is performed to improve the risks. I had an amnio done a few weeks back and the OB doing it had a MC rate of 1 in 500 - you do need to use an experienced OB though...

 

[mouse_chicky]

Went to the prenatal diagnostic center today. After a long counseling session in which I embarrassingly tried to remember all my many aunts and uncles and their respective offspring, the counselor explained that my blood work showed a 1 out of 85 chance. Then, I had a very detailed ultrasound. The doctor said their was nothing from the ultrasound that indicated DS, except small size. At my last ultrasound at 16 weeks, I was 5 days earlier than indicated by my last period. Today's ultrasound indicated the same thing. After I explained to the doctor again that I didn't know when I ovulated (now I really wish I had temped) so I could very well be earlier than the 28 cycle would place my due date. With this information, he recalculated the risk (if my due date were actually 5-6 days later) and my risk came out as 1 in 233 chance, which is about the same, according to them, as a mom of 36. I can live with that.
Even though there is no certainty, I am glad to have a decreased risk now, and I feel at peace having decided not to get an amnio. It is well with my soul.
On a lighter and cute note, baby was hilarious on the ultrasound. She kept covering her face with her hands and waving.

 

[debgreasby]

Glad you feel happier

 

[Jojo-Mummy]

awww sorry to hear this, their not 100% corredct though, without the amnio they can only say its a "high risk" just try to stay positive until you have the other test results. *Hugz*