soft markers

[sandi71]

I have just had a routine anomaly scan at 19 weeks and was told that my baby has two soft markers indicating a 1 in 27 chance of my baby having Down Syndrome. The nuchal fold is 6mm and the baby also has an echogenic bowel not quite as bright as bone. I am booked in for an amnio on Tuesday and have been told it can take up to 4 weeks for the results to come back. I don't know how I'm going to face the next few weeks and just wanted to know if anyone else had a similar experience or any advice?

Sandi71, I've just been through this and I send my sympathy as it's a frightening time. I can only second what jellyhead says, and add that not enough is known about soft markers to be conclusive. It's like being given half a picture, and imagining the worst possible other half. I had an amnio last week, and had the Downs result back in 48 hours (although I have to wait the full two weeks to get the others). Can you ask your hospital if they offer the 48-hour FISH test (Fluorescent In Situ Hybridisation = rapid Downs result), or if they have an agreement with another lab which does? My hospital doesn't do it routinely, but has a deal with a lab in London to do it privately for £86. In the end, the consultant saw the state I was in and put it through the hospital lab, and has my eternal gratitude. Good luck xx

Very sympathetic, Sandi. DS also had a scary soft marker, he turned out to be "fine" but I had lots of extra scans and it was very distressing for me.

Just try to think positive; the odds are 26/27 (or 96%) that your baby doesn't have Down's.

ps I thought that the Down's result does come back very quickly is it within 1 week? But the rest of the results, such as rare genetic defects, can take up to 4 weeks. Ask about that, Sandi, because if the fetus is cleared for Down's within a week then the odds that something else is wrong are quite low, which means you have less to worry about.

Sandi have you had any other scans or tests as well? My ds also had an echogenic bowel at the routine anomaly scan. We were refered straight to the Fetal Medicine Unit at UCH to have an even more detailed scan where they checked for all the other soft markers (eg counting the number of bones in his fingers) and did many other non-invasive tests. They also did a whole battery of blood-tests on me.

oh Sandi71 -- i had v similar experience to you.
at my 20 wk scan, i was told my baby also had 2 soft markers for DS. one was renal dilatation, the other ecogenic foccii. this was about a month and a half ago. deciding to go for the amnio, then waiting for the results, was the worst worst time for me and DH. i feel for you. SO MUCH. we were so frightened and lost. your mind takes you to some terrible dark places.
i got some amazing support from family and from MN. please keep coming back here, people know so much and have been through so much.
it takes up to 4 wks for the full amnio results to come back, but usually they know about downs, edwards and patars (sp?) within about 4/5 days.
our baby was given the all-clear after amnio. it was just one of those things. these soft markers are just that: 'soft'.
is there a genetic counsellor at the hospital who you can call, who can talk you through everything, who you can call with questions before you get the results? is a consultant doing the amnio it not, can you see one tomorrow to ask all the questions you want to ask? don't be afraid to push the hospital for all the information you need. i found some amazing support once i asked for it consultants ringing me back within 5 mins etc.
please keep posting, let us know if there's anything else we can help you with. i didn't really tell many friends what was happening, too distressing, but writing stuff here really helped me cope. and reading the feedback helped DH too.