High Risk for Down Syndrome/Edwards-Positive Stories needed please!

[MumOfMiracles]

Hi lovely Mummy's, really need encouragement today, this is my 3rd pregnancy and after a really wonderful 12 week scan seeing my sweet baby. Got a call 2 days later to say I am high risk for Downs (1 in 143 chance) and Edward's (1 in 243) For my last 2 it was 1 in over a thousand so this really came as a shock! Not only that I have low Pappa-A so am taking aspirin every night to support my placenta. Keeping all this quiet from friends and family as I don't want the pressure of keeping them posted and dealing with their reactions to the news. So feeling very overwhelmed right now emotionally and have opted to take the Iona test on Monday (NHS version of Harmony) to get a better idea of what my chances really are.

Positive stories or any words of comfort or encouragement would mean so much right now.

Thank you! xx

@Tangledtresses That is encouraging to hear hey lovely @Kellyd79! Hopeful things WILL turn around for you! x

Hi ladies, so long winded title but wanted to give the full story. 50% chance of my Daughter having KDVS, my Son and I were both diagnosed with this last week. Bless him, had a really hard start in life but is a happy and healthy 14 month old who's doing awesome with his progress. My other Daughter is nearly 3 and has had no issues at any point. All else with baby girl so far appears normal which is great and only a mild case so far but going back in 4 weeks for a re scan as fetal medicine scan picked it up. Anyone else in or been in a similar situation? Would appreciate hearing from you! Thank you xx

Measuring at 11.5mm one side and 10.5mm the other side. Also KDVS stands for Koolan de Vries syndrome. x

My gorgeous boy at playgroup today! Xx

@Kellyd79 Any news lovely? How are you getting on? Xx

@MumOfMiracles I've not heard of that syndrome what is it? No more news as yet, back at hospital tomorrow morning for another try at the amnio but I've convinced myself it is edwards. I can't see there being many nipt false positives

Praying for the best possible outcome for you lovely lady! Xx

So blessed Josh outgrew hypotonia before he was even a year old! Xx

Thinking of you today @Kellyd79, let us know how it goes lovely. xx

@MumOfMiracles thank you, just had the amnio, not a pleasant experience I have to say! Scan again looked good and other than exomphalos the only other thing that was seen was a vsd i think she said, to do with the heart anyway. She said everything else is good, hands were open and feet are normal but she did say that she believes with the exomphalos and the vsd it'll come back positive for edwards. Just a waiting game now. How are you doing? Xx

Thinking of you lovely! How soon do you get the results? Praying its a shock in the best possible way and it doesn't turn out to be Edwards. Feel pretty shattered to be honest but getting help with that much as I can. Also been googling positive outcomes on mumsnet for ventriculomegaly as it helps encourage me. Getting anxiety management/counselling too as I want to build my strength up mentally and emotionally. Same as you I love my sweet baby so much and finding it really hard not to overthink things/all the possible outcomes with this pregnancy. Much love to you and keep us posted. Xx

Hey @Kellyd79, how are you getting on lovey? Any news? xx

@MumOfMiracles yeah got the results today, positive for edwards. Were devastated

@kellyd79 I am so sorry to hear that. Sending you lots of love.

@Kellyd79, my heart goes out to you Kelly, heart broken for you and your family, sending so much love and always here if you need a listening ear at all. xx

Thank you, its appreciated. Were just going through the motions at the moment, she looks quite healthy on scans so we can only hope we have a good outcome from all this

Can't imagine what you guys must be going through, thinking of you! All here anytime you want to reach out and holding on to hope with you for the best outcome possible!

@Kellyd79 I had positive prenatal tests for Mosaic Edwards. I have become aware good outcomes can happen, having become aware of healthy children with mosaic and full Edwards. Here if it helps to talk x

@SarahD19 yes thats all we can hope for at the moment. Were just waiting on final array results that will hopefully tell us. Fingers crossed the scans continue to look good

@Kellyd79 indeed the target scans can be really crucial. This is ultimately what we were ultimately told in our case. How far along are you now? X

I’m thinking 17-18 weeks? Xx

My son has KDVS, diagnosed at 13 - he’s 27 now. There are Facebook pages where you can link up with other families.

@SarahD19 I'm just over 18 weeks yes. The only thing they've seen on scan to now is a moderate exomphalos and a possible vsd although that's not definite yet, we've got a cardio scan on Monday. Everything else looks great and hands are open. Also I have a 3 vessel cord, I know most edwards babies have a single umbilical artery so again I'm hoping that's a positive sign

@Kellyd79 that all sounds quite positive! We had a VSD scare at that point too. Although Fetal Cardiology examined and felt it was a false alarm in our case. Will be thinking of you x

@SarahD19 thank you i appreciate that. I accept the amnio result my only hope now is that its not severe