Abnormal for Trisomy-18 - Saint Paul,MN

Hi K.,

My thoughts are with you. This is not a fun time, and I can fully attest to that. I recently took a quad screen and the odds for Trisomy 21 (Down's) came back 1 in 134 which is higher than normal for my age range. We went to a genetic counselor and did the Level-2 ultrasound in late October. As one other poster said, please remember that the odds are by far in your favor! There is absolutely nothing you could have done any differently in your pregnancy so far since it happens at conception. The genetic counselor will walk you through your exact screen results, options you have, and will answer every question. We opted not to do the amnio because the results of the ultrasound came back so good. We had a follow-up ultrasound as well, with no issues. No matter what your results are, I feel it's always best to know and be prepared rather than deal with a surprise.

Take care and try to enjoy the weekend with your 1st child!

I had the quad screen and also got back some "risk indicators" for trisomy 21 (down's). The quad screen alone is not 100% accurate and so most results are coupled with a high-level ultra-sound. Even then..Results are imperfect. With quad and US: down's detection about 82-87% and trisomy 18 is a little better at 90%. Not that this is really possible...But try not to worry yourself silly before Tuesday. On this site hundreds of moms have testified to the false-positive they have received and that never panned out.

My little boy ended up not having trisomy 21. But I will confess that we followed thru with the 3rd step which is amniocentesis (some get CVS). I am a compulsive consumer of any and all information and knew I wouldn't be satisfied until I could confirm or deny my quad screen results.

Hi, with my first daughter (I was 39) the quad screen came back positive for Downs (trisomy 21) -- a 1 out of 60 risk. Waiting for the amnio results was the worst time of my life. But everything turned out to be fine! This is what happens most of the time, so the odds are very much in your favor!

If you decide to get an amniocentisis, you might look into getting the quick turnaround results (takes about 3 days). That's what I got. They're something like 90% accurate, as opposed to the 95+% accuracy of the regular 2-week results. (I did the 2-week as well, just to be double sure, but it was a major relief to get results back in 3 days.) Your insurance might not pay for the quick test, but it could be worth checking into if you go that route. Have faith and hang in there!

I know two people who have tested this way, but the baby was normal. I wouldn't worry about it too much.

I have never done the screening tests because of yhe high number of false positives, but we did have 1 trisomy 18 marker with my son. It was really scary. We decided not to do the amnio because the odds of losing a baby that way is 1 in 250 and I just wasn't comfortable with that. When I was doing the internet research I kind of came to a place of peace. It was going to be what it was going to be. I also gave some money to the Trisomy 18 Foundation. The odds are highly in your favor. Try not to worry, and if that's not possible try to distract yourself. Stress isn't good for either one of you either. I will be thinking good thoughts for you.
E.

I can't really give you reassurance about the actual results because I didn't undergo the quad screening with my only pregnancy. The doctor indicated that there was such a high rate of false positives that it was only really worth undergoing this test as a healthy couple if we wanted to, or had a family history that indicated we may need to. We opted out since I am adopted and have no idea what my family's medical history even looks like. Another person I know did the quad screen because there's a history of downs syndrome in her family, the test came back positive and she ended up with a 100% happy healthy little girl.

I wouldn't let the results freak you out too much because of that high rate of false positives. I'm sure you will go to the ultrasound and everything will be fine. I hope everything is absolutely normal and you end up with nothing to worry about! Even if you end up with a special needs child you will be no less blessed with that child.

From what i have read it seems ultra sound and Maternal serum screen only tell the odds not that it will happen. and there are false positive chances if you want to find out for sure you need CVS (Chorionic Villi Sampling) or Amniocentesis, FISH test. i have not personally dealt with this but my thoughts and prayers are with you and your family. It is not in your control to do anything about this situation but i hope you have the strength to deal with everything that comes your way.

The false positives for that test are absurd. My doctor even told me not to bother with it unless I had a high chance of one of those conditions in the first place. As in a Tri 13 baby in the family. Being old enough for a Tri 18 baby.. etc.

I was on a birth board on BBC and There were 5K people. Every single day there were tons of these posts for about 4 or 5 weeks while people were hitting that point of being able to get that test. Guess how many babies came up with any of those 4 conditions... a handful. I'd say HUNDREDS had false positives and went through what you went though.

I won't lie there were some real Tri 13 & 18 babies that weren't combatible with life and everyone felt so much for those women. But it was such a small number for the amount of positives that test yielded. So I'd relax and wait for the ultrasound and if that comes back possible consider the amnio but I saw LOTS of the ultrasounds even yielding positives and the amnio coming back fine. Best of luck to you!

K.- I received an abnormal result for trisomy-18 with my daughter. The two weeks before my ultrasound was scheduled were by far the worst two weeks of my life. Our odds were 1 in 94 so the doctor said that she felt bad she even needing to call. The ultrasound came and based on the images they saw (no curled hands or feet, strong heartbeat, etc...) they upgraded the odds to 1 in 400 something. We chose not to get an amnio done. In September 2007 my perfectly healthy little girl was born. Both apgars were 9. So, yes, it can and has happened that an indicator is wrong (fairly frequently based on other responses).

Keep reminding yourself that it the serum test is just an indicator. Wait to see what's on the ultrasound and go from there.

I will be praying for you and your family to have the strength and guidance to get through this incredibly trying couple of days. It's not too much to expect a Christmas miracle. Sometimes all you have to do is ask Him.

A. - working mother of one 2 year old girl

I had an abnormal down syndrome screening with my first child and I had an ultrasound and they did not find any evidence of down syndrome. I was then 1 in 682. I opted not to have the amnio. I am 12 weeks pregnant now with my 2nd child and I am not going to do the maternal serum screening just because most of the time it is false positive and I have to see a high risk pregnancy doctor anyway because I will be 35 when I deliver. I would not get too upset about it. I do know how you feel. I got so worked up and then everything turned out fine. My daughter is 2 1/2 and healthy. Good luck

I didn't have an abnormal screen for Trisomy 18, but we were told that we had a 1 in 60 chance that our daughter would have Down Syndrome. I was really worried about it, but we chose not to do any further testing. One thing that did help me to deal with the information was something our genetics counselor told me. A 1 in 60 chance meant that if I had 60 babies, maybe 1 of them would be born with DS. Our daughter was born without DS. I know it's hard but try not to worry too much. You will be in my thoughts and prayers!

This test has a high false postive rate; please try not to worry :)

I did not have any of the screening tests done, but had the amniocentesis (since I was 40 at the time). The screening tests have a VERY high false positive rate. In my case my chances of having a baby with Down's was 1 in 90-something because of my age, which sounds very high because we can easily picture 90 people in a room and one of them has this disorder. What I did was tell myself that I had over a 90% chance of having a baby without Down's - sounds better doesn't it? And it is just as statistically accurate! At this time, you have about a 74% chance of everything being normal, and I bet you would buy a lottery ticket if your chance of winning was that high :-) Hang in there!

With my first son it came back 1 in 77 that he had downs. I was a wreck! We did an amniocentesis because the drs. said it was the best way to determine. I also wanted to be sure so we could prepare if needed to. After a week everything came back fine. Chances are that everything is fine, but I know how you feel. Good luck!