Hi Everyone. I am new to this so I'm just going to explain what I'm going through. Recently I had my 20 week ultrasound and everything looked okay other than the fact that my baby has bilateral choroid plexus cysts on his brain and a short nasal bone. I am told these are both markers for down syndrome and I am meeting with another doctor for genetic counseling on the 27th to discuss further testing options to get a definite answer. I am freaking out as this is my first baby and everything was going so well before this. My excitement of having my sweet baby boy has dwindled to swollen eyes from crying so much. My quad screen was negative: 1:3900 for Down syndrome and 1:23000 for trisomy 18. Less than 1% for both. i'm just looking for any consolation or anything mommas who have had these same issues with their babies. Anything will Help!!
Choroid Cysts and Short Nasal Bone
- Thread starter shaiblock
- Start date
stacey2404
Well-Known Member
- Joined
- Dec 28, 2013
- Messages
- 255
- Reaction score
- 0
I didn't want to read and run you must be very stressed and worried. I hope your appointments clear up some of your worried. I'm sure either way your baby will be loved, the strongest parents face the biggest challenges at times. Thoughts are with you xx
Loula
Well-Known Member
- Joined
- Oct 8, 2011
- Messages
- 6,732
- Reaction score
- 7
I feel for you I really do. Was none of this picked up at your 12 week scan?
The 27th is 9 days away is there no way they can see you before. We were high risk for downs after our 12 week scan and the screening team saw us the same day they ring us.
The 27th is 9 days away is there no way they can see you before. We were high risk for downs after our 12 week scan and the screening team saw us the same day they ring us.
have either you or the babys father got short noses? surely a blood test is more of an indicator than a facial feature. A friend of mine had a baby and after delivery they had a lot of anxiety because they were told the baby had some of the facial features for downs. Actually, he just had his mum's eyes. which were a lovely almond shape.
Hi, Shaiblock.
We had the news that one of our twins is 1:18 risk for Down’s Syndrome (just yesterday) and we opted for the NIPT test which was done there and then and the bloods sent by 24hr courier to the London lab. We expect results within 1-2 weeks.
Our risk indicator was a NT thickness of 3.4 which is very top of normal. Combined with my age (almost 35) it ramped the risk up. Other twin is low risk (1:525). Though obviously they can never discount it without certain testing.
Whilst the indicators aren’t the same (at this point at least) I sympathise with the waiting and also the sudden loss of joy. It isn’t that it would affect how we would love the baby, but the shock and fear it’s left within me are making me numb at this point.
As Loula says, the NIPT is an accurate screening test and doesn’t harm the baby at all as it’s a simple blood test for you. But you have to pay (ours was £450). The only way to fully know if to have amniotic fluid taken via a needle through your tummy. This carries a small risk to baby but the further on you are the lower the risk - that’s what I was told yesterday anyway as they suggested if we did this we should wait to 16 weeks as before then it’s placenta samples which is higher risk than the other.
I’m thinking of you too. It feels like the world stops spinning for a moment when you hear those words doesn’t it. I almost threw up on the poor nurse. I hope you get good support and hope it goes well for you x
We had the news that one of our twins is 1:18 risk for Down’s Syndrome (just yesterday) and we opted for the NIPT test which was done there and then and the bloods sent by 24hr courier to the London lab. We expect results within 1-2 weeks.
Our risk indicator was a NT thickness of 3.4 which is very top of normal. Combined with my age (almost 35) it ramped the risk up. Other twin is low risk (1:525). Though obviously they can never discount it without certain testing.
Whilst the indicators aren’t the same (at this point at least) I sympathise with the waiting and also the sudden loss of joy. It isn’t that it would affect how we would love the baby, but the shock and fear it’s left within me are making me numb at this point.
As Loula says, the NIPT is an accurate screening test and doesn’t harm the baby at all as it’s a simple blood test for you. But you have to pay (ours was £450). The only way to fully know if to have amniotic fluid taken via a needle through your tummy. This carries a small risk to baby but the further on you are the lower the risk - that’s what I was told yesterday anyway as they suggested if we did this we should wait to 16 weeks as before then it’s placenta samples which is higher risk than the other.
I’m thinking of you too. It feels like the world stops spinning for a moment when you hear those words doesn’t it. I almost threw up on the poor nurse. I hope you get good support and hope it goes well for you x
Last edited:
