Increased risk of Edwards’, Patau’s & Down’s Syndrome :(

[RebahSara]

Hi All,

Today I received the combined results of an ultrasound scan & blood tests, which tell me that my baby’s risk of having Edwards’ / Patau’s Syndrome is 1 in 10 and Down’s Syndrome is 1 in 17. I am currently 12 weeks pregnant and I am beside myself with worry My CVS test is scheduled for next Wednesday but I honestly don’t know how I will cope with the wait. I am trying to focus on the 90% chance that everything is fine, so the odds are still very much in my favour...however, it is difficult not to be consumed by worry about the 10% chance of Edwards’ / Patau’s and the 6% chance of Down’s. The sonographer confirmed on Wednesday that everything appeared normal & healthy on the ultrasound, although I am aware that many abnormalities are not visible until later in the pregnancy. Moreover, I have been informed that I have low PAPP-A, but was also told that this is not a cause for concern provided that the baby’s growth is monitored. I don’t know what I am hoping to gain from posting here, I guess I just need comfort and reassurance at this time...not easy, I know, since every pregnancy is different! I am sitting here alone with my thoughts and I don’t know where to turn

Thanks & love

Sara x

How did it go @RebahSara ? I remember now that I got my initial results about 3 days after to say no Down's syndrome and then the full results another 4/5 days after that - I had the full karotype tested, which I had to pay for.

Waiting is absolute agony. Have you got someone to support you during this time? Try and stay distracted as hard as that is. I tried to read a new good book or watch series on Netflix etc.

I hope it all went well and that you're not in too much discomfort now. Remember paracetamol is your friend and totally fine to take when pregnant. Lots of love xxxxxx

Also I don't think the length of time you wait will dictate either a positive or negative result, it's all to do with how busy their labs are, so don't worry if it comes slightly later. Did they give you an idea of when to hear back? Xxx

Did they let you know when you should expect to hear? Sending so many good luck hugs your way OP...

Good luck OP, the wait for the results is torture but I'm keeping my fingers crossed for good news for you xx

Good luck

Any news OP? Fingers still well and truly crossed. I've been there, the waiting is agony.

Hi @RebahSara have u had ur results back yet? Lots of love xxx

I'm so sorry you're having this awful time. We went through very similar, our NT measurement was 4.7mm ! We were offered Harmony blood or CVS, we opted for CVS because it also looks at other Chromosome abnormalities, whereas Harmony only checks for the three major ones... it also gives you a yes / no rather than another probability score which doesn't often offer comfort.

As hard as it is... try to stay positive and you're doing the right thing keeping busy..... sending so many positive thoughts your way and hoping you get a negative result and you can enjoy your pregnancy.

(If it gives any comfort, I wrote our account on this thread www.mumsnet.com/Talk/pregnancy/3336094-High-NT-Reading-4-7-at-12-Week-Scan-our-experience )

xxxxxxxxxxx

Have you had your results back love ? Xx