High risk for Down's, Edwards and Patau's

[Manctart]

Hi all, just after any similar experiences or a hand hold really.

I got the dreaded call from the midwife today and am high risk for Down's (1 in 110) and Edwards/Pataus (1 in 130). It has really knocked me as I never actually considered those possibilities. We had already talked and Down's is not a big deal for us but would rather be prepared so we can start planning. With the other two I don't think I am not so sure

We are going to pay for the IONA test first to try and get a better answer and then if still high risk probably have amniocentesis. I'm just really devastated that this pregnancy has been crap so far and doesn't show any sign of getting better

Sorry for a long and depressing post. Please give me your honest thoughts and experiences if you have them.

Hi everyone, I am really relieved to be able to say I have come back as low risk for all three from the IONA test. Was such a stressful time but your replies all really helped so thanks again! We also got to find out early we were having a little boy so that was exciting!

Brilliant news op I hope you can relax and start to enjoy your pregnancy now

@Olivelor I’m sure you love your sister and niece/nephew, but please watch the language you use. “Ended up with” “a Downs”?! I think you meant “had a child with Down’s Syndrome”.

@Manctart - so glad you got your results and they were all good. Am very jealous - I got my Iona bloods done (via Stoke Mandeville hospital) last Monday and not expecting them back until “hopefully” end of this week! Tenterhooks is not the word! We’re not so concerned about Down’s - My daughter has Down’s and is fantastic - (although it would cast a slight spanner in the works of our plan for her to have a sibling who could look out for her when we’re gone), but for some reason I’m really jittery about T13 and T18, even though no particular reason to think it’s likely....I guess I’m just more cynical this time round!

and she ended up with a downs
Really?? She has a child with Downs Syndrome. You make it sound like she picked the xhikd last in the raffle.

And in walking away from the God comment because its a matter of faith but do you really think God goes around giving children additional needs to reward special women??

Anyway Manctart wonderful news xx

curlie hope you get the same result soon.

curlie I really hope you get a good result soon! I am just relieved to know either way and I am sure we would have been fine eventually if had not been such positive news.

Olivelor I hope I didn't give the impression that I wouldn't have wanted a baby with Down's Syndrome - that was not my intention. DH and I would have been fine with that but wanted to know in advance so we could have prepared. As it happens we will not have to do that now but it wouldn't have been a problem. I'm sure your sister's child is super special

I'm sure you're relieved OP, it's such a stressful time! Enjoy your pregnancy and your DS x

I had to have an amniocentisis yesterday. My downs tests all came back as low risk but with issues found during a scan at weekend its looking likely i may need to have a termination as theres a good chance my baby will have edwards/pataus/downs.
My head is all over the place. Results monday at the earliest

1987Laura I am so sorry to hear that you are facing a horrible wait for results. The responses I got on here really helped me as there are so many ladies who have to go through the same thing. Based on the past week, I would say that family/friends are very sympathetic and want to offer advice but at the end of the day you have to consider what is right for you. It is an extremely brave choice either way I really hope for a positive result for you though. Hopefully someone else may be able to offer some other advice, a lot of ladies mentioned ARC as being very supportive, have you considered calling then for support?

@manctart no i havent yet. Still letting everything sink in. Don't think ive ever cried as much as i have the past few days

1987Laura if you get a positive diagnosis for Edwards or Patau please have a look on the Facebook groups before making a final decision. Your decision is right because its what's beat for your circumstances but hospitals still largely preach the gospel of incompatible with life and that fiat isn't the case these days with treatment. There AREt children living with t13 and t18. I really hope your result cone back clear x

Thank you x

1987Laura I'm really sorry you are going through this, the waiting is very difficult. I went through something very similar earlier this year. My baby had T13. My combined test results were dreadful (1:2 for Edwards & Patau) and a further scan showed some worrying physical anomalies. In the end we were 'fortunate' that our son died at 14 weeks, before we had to make a final decision to TFMR, but it was still a hellish few months.

I found ARC to be very helpful and supportive, and I really hope that you have a happier outcome.

I've just passed my due date, and things are slowly getting easier. I'm still very sad about it all, and have had some counselling, but can see the light at the end of the tunnel. If you would like to PM me, please feel free.

Manctart I'm so pleased your results came back ok, I hope the rest of your pregnancy goes smoothly.

Sorry just saw this thread and wanted to say congratulations and sorry you had to go through such a stressful panic! So pleased for you and your little boy!

curliegirlie and 1987Laura I hope you got clear results and are doing ok x

@sleepingStandingUp got 1st set of results last week. My baby girl doesn't have down's , Edward's or Patau's. So relieved. Still waiting on microarray results to rule out anything else. Meeting with surgeon next weeks to see if her hernia can be fixed as it looks like her bowels are attached to it and growing outside. Hopefully she will survive x

Laura my sons nurse was telling me today about her daughter who was born with her bowels on the outside - now a very bouncy awesome 4 year old. My son was born with CDH, surgery at 2 weeks and now an awesome 2.5 year old.
Neonatal surgeons are spectacularly amazing. Keep faith xx

Hi laura I am so glad to hear you got some positive news from your tests. I don't know much about the other stuff you have mentioned but I agree with sleeping that neonatal surgeons seem to be absolutely amazing so I have everything crossed for you that it will all be ok

Thank you both. Im making myself ill with worry

Thanks, yes, I got my Iona results last Thursday - low chance for everything 😊 Although they didn’t tell me the gender, which I was a bit miffed about, as the hospital was unclear whether it was due to my sample or because they just don’t do that big the the test. First I was told, “they don't test for baby's gender on the NIPT as it has proven to be unreliable” (!?) then “I have just spoken to scientists at cytogenetics lab in Oxford and unfortunately they are unable to tell you sex of baby”....hmmph! I was looking forward to there being at least one fun frivolous bit to the Iona test after the worry of waiting for the results!

Just got 2nd part of results back. Came back clear. No chromosome defects and she is definitely a wee girl! Just have to wait til wed now for answers if she's going to survive x

@1987Laura everything crossed for you, it must be such a worrying time. I’m sure they’ll be doing all they can for you both . How many weeks are you?

Laura the genetic result is fab. It also means its much more likely they'll operate. The large xhildrens hospitals - whichever is your closest - are amazing. But if you feel they aren't fighting hard enough for your daughter, question and question and push and argue.

Curlie that is brilliant news xx

I will do xx