1 in 5 chance of Down's, Edwards or Patau syndrome, feeling very scared!

[GOhara]

Hi I'm really hoping to hear other people's experiences of this.

I'm 12 weeks pregnant with my 3rd child, at our scan on Wednesday we were told the baby has a Nuchal fold of 5.9mm, a liquid filled structure in the brain and the 4th chamber of the heart could not be seen. Yesterday I received my blood test results back which have given a 1 in 5 change of Down's, Edwards or Patau syndrome. As you can imagine we are devastated, the specialist midwife has told me that our child is very likely to have Edwards or Patau syndrome and its almost definite I will have to end the pregnancy. I'm having to wait till Wednesday for a CVS which seems like forever away. I'm just wondering if anyone else had has a similar experience, I'm feeling very scared and the waiting is horrible.

Xx

[GOhara]

Millionsofpeaches... You made me laugh with why won't the sleep in thier own beds!

OhShutUpThomas... Thank you, I was reading that thread earlier.

I just don't know how I'd explain to my 5 year old why the baby didn't come home from the hospital etc. :(

[GOhara]

Thank you Tollygunge, I'm sorry you've been here too. I will be giving the ARC a call X

[Goingtobeawesome]

I really hope that you have good news. People can get things wrong and having Edwards syndrome does not mean certain death.

We were told our baby could have it. I refused all tests. Baby currently watching Ant and Dec with me. I've also read of a little girl with ES who was nearly ten when I read about her.

[GOhara]

Goingtobeawesome... That's so lovely :)

I think if we were just faced with high nt and bloods I might be more positive, but knowing the little baby has a brain and heart defects has made me loose all hope of he or she even surviving the pregnancy xx

[Goingtobeawesome]

I'm so sorry. I deleted so many times as wasn't sure whether to post but I wanted to give you positive stories with both outcomes and hope that whatever happens you can deal with it.

[GOhara]

The positive stories are wonderful, and i do like hearing there may just be some hope, so thank you :)

[hopinghopefullyagain]

I agree, the heart and brain anomalies are worrying although we learned that scans are not an exact science and that something which is picked up at one scan may not be at a second. There are a number of blogs and Facebook pages made by parents who have living, angel and stillborn babies with T13 and t18 if you did want to know more.

[TheDisillusionedAnarchist]

I had a beautiful daughter with trisomy 18, absolutely zero regrets about continuing the pregnancy and opting for active treatment.

This my blog for her //www.rumersrainbow.co.uk if you go to the trisomy info page there are links to all the wonderful online support groups and the personal pages of survivors and lost babies including those of families who chose to end their pregnancy.

I'm sorry it looks like you may be joining our band of trisomy families, the club no one wants to join. Take your time, grieve. Explore your options, enjoy whatever time you have with this baby and whichever route you take there is so much support here. Please do PM me if you want any information at all on continuing a pregnancy with trisomy. I know many others here offer the same for ending the pregnancy.

[TheDisillusionedAnarchist]

Oldest survivor with Edwards was 50 but even with the best treatment 75% die before a year.

The heart defects are common in t18 and 13, many have small left sided hearts around 20 weeks and suspected hypoplastic left heart which improves through pregnancy. We had this and I know of several other families who had the same. I know of 2 families who did have HLHS at birth. Rumer's brain anomaly showed up on MRI at 22 weeks pregnant, had gone by the post birth MRI. Tri babies develop differently it seems.

[GOhara]

TheDisillusionedAnarchist... Thank you for sharing your story and for the support. I have read your blog, your daughter is beautiful! I just have to wait till my CVS and results to see what our options are. The waiting it's just horrible xxx

[amysmummy12345]

Any news op? Xxx

[LyndaZ]

Just looking for ppl with the same experience. I'm now 15 w 5 days and I have been told that I have a 1 in 200 chance of the baby having patau. Down syndrome and Edwards was 1 in 1000 or 2000 they aren't worried about that. At my 12 week scan the Nt was normal 2.2 and my bloods were ok I just still don't understand why I am high risk. I am doing the harmony test tomorrow to find out I'm really scared.. what is everyone's opinion please? And if positive should I do amnio?

[Gunpowder]

Hi Lynda, we had similar odds of 1:200 for T13/18 (at my hospital they banded them together.) The doctor told me the results were higher than my background/age risk would indicate (and way higher than with my first 2 DC) because the baby's heart rate was fast which is common in babies with Pataus, IIRC. My bloods were fine too and NT was 1.6 I think. We opted for the harmony test and thankfully the results came back as very low risk for us so we opted for no diagnostic testing. We still have the anomaly scan to go though.

If the harmony had come back as positive we would have gone ahead with an amnio as sadly I don't think we would have wanted to go ahead with the pregnancy if Pataus was confirmed.

It's a horrible wait but odds of 1:200 are tiny really. I hope you have the same result from your Harmony test.

[FFE14]

Hi, I know this thread was a while ago but was your results of the cvs? Going through a similar thing and struggling x

[june2007]

Babies with Mosaic Edwards can live to adulthood. 9 I have wrked with a 4/5 yr old with Edwards and he wasn't at deaths door.). DS is not a live threastening condition. My sister was told her baby would have a condition he doesn't and heart probs he doesn't. Home the tests you have help you make a decision that is right for you. But they are not ful gone conclusions they are generally probability.