Need/advice reassurance: first tri screening

Anonymous
So, I am almost 15 weeks and just got the results of my first tri screening (took a few days longer with holidays etc.)...it is abnormal and they say 1:150 chance of DS. I wasn't sure about going in for an amnio, but the nurse really seemed to want me to...so I went ahead and scheduled it. Anyone have any words of encouragement after facing a similar situation? Any have experience with an amnio? It totally freaks me out .. when she called, my heart dropped. Can they do the first tri screening again to be sure?

Also, I have seen that some folks after getting abnormal first tri screening, a level II ultrasound is sometimes done. Anyone have experience with this? I am going to call the genetic counselor back (who was great) and ask her about this, but wanted to know what you all think.

Thanks for any insight!
Anonymous
How old are you?
Anonymous
Sorry, forgot to mention...31. Genetic Counselor said 1:150 is high for my age.
Anonymous
I agree, it's rather high for your age. I would go ahead and do the amnio if I were you. The risk of m/c with an amnio is very low, lots and lots of women do it without any problems, it's a very safe procedure especially if you do it with an experienced doctor.
Anonymous
It's too late for them to do the first trimester screening again since you are no longer in your first trimester. The latest they can do the first trimester screening is at 13 weeks.
Anonymous
My quad-screen results were good for my age (1 in 470 for DS at age 36) but the doctors picked up on something in the 20-week ultrasound that was a minor marker for DS, so I had an amnio.

My doctor told me that he considers miscarriage risk of amnio to be about 1 in 500 and because my "marker" increased my risk to 1 in 235, he said I should do the amnio if I would "do anything about the results." whether or not your beliefs allow termination, it's not a bad idea to know what you're dealing with so you can start researching special services if necessary. Services for DS kids really vary between states and counties.

The amnio wasn't that bad. Scary because you're facing a potentially scary result, but the test itself wasn't bad. They monitor the baby via ultrasound, give you a local anesthetic and then you can look at the monitor while they do the test. the needle stick is slightly painful, but no worse than giving blood or getting the epidural. afterward, you feel fine, but you're supposed to take it easy for 2 days. (i.e. you can go to work but no running for metro trains!) if you're anxious for results, you can pay to rush the results. I did, and two days later I knew with 99.89% certainty that my child was free from Trisomy 18, 21 and 23 among other things. And they can confirm the sex of your baby if you want to know.

Good luck. It's a personal decision, but if it were up to me, I'd want to know, since the miscarriage risk is less than your DS odds and your DS probability is high for your age. (I believe 1 in 450 is more typical at age 31.)
Anonymous
To 10:32- May I ask you who your doctor is? He sounds great and I am currently looking for a new OB.
Anonymous
My 1st trimester results came back good for my age (37) but we asked for detailed U/S at 16.5 wks to determine if they saw anything (markers) that might lead us to do an amnio. During the U/S they saw a few cysts in the baby's brain. While there was nothing else that looked suspicious, and the OB told us that based on the NT results and everything else they saw on the U/S she was pretty certain that the cysts meant absolutely nothing, we knew that we would terminate if an abnormality was confirmed so we went ahead & got an amnio that day. The proceedure itself was pretty quick and not painful (did feel a little weird though). Of course my mind thought of worst case scenarios (miscarriage) but both baby & I are totally fine and the amnio results came back good. You may want to ask if your doc would be willing to do a Level II before the scheduled one at 20 wks. That way you could get a little more information to help you decide if you wanted to go ahead with the amnio. I agree that it is an intensely personal decision. If you think you would terminate, I would get the amnio. Good luck to you.
Anonymous
Dear OP -- Don't panic. I had an amnio. I was terrified that I would lose the baby, that it would hurt, that it would harm the baby...you name the fear, I had it. It turned out to be a very mangeable experience. The amnio did not hurt. It felt wierd, like a squeezing sensation but as long as you do not look, you will be ok. I felt a little crampy the rest of the day and stayed home, but the baby was fine, I was fine, and I'm now at 34 weeks and counting. I can imagine the results of the initial screening were very scary and you have tough decisions to make, but you can definitely handle the amnio. Good luck.
Anonymous
You can also get a "sequential screen," which involves taking a vial of blood in weeks 15-16 (I just had it done today). They have to send it to the same lab as the one that handled your 1st trimester screen, but it looks at different proteins/hormones and will give you a new score that combines the results of the 1st trimester screen with the sequential screen. It takes a week for the results to come back (at my doc's at least), but you would still have time at that point to have amnio if the results are not more reassuring. FWIW, my results were 1/450 on the 1st trimester screen (I posted here with some similar questions to yours last week - "NT test results" was the heading, I think), at age 32, and I was unsettled about that enough to have this second test/consider amnio. Your risk of DS is still less than 1%, but the risk of miscarriage from amnio is much lower (my doc said 1/600, but it depends on who does the amnio -- ask the doctor who'd do it what his/her stats are) and would either give you peace of mind or give you concrete data on which to base a termination decision (if you're inclined that way).

Good luck!!
Anonymous
OP, I just read your post and I could have written the same stuff. I am 31, 18 weeks along, found out on Monday from my OB that the quad test results showed that I have a 1:150 chance of having a baby with DS based on the low AFPs. I was immediately scheduled for an (early) level II ultrasound yesterday. During the level II, the doctor (specialist in the same hospital as my OB) said that everything looked "normal" but that if I wanted to be sure, I could do an amnio the same day. He said the risk of miscarriage is about 1/400. He didn't seem to recommend it one way or the other, instead he said, "If you're going to worry, then do it, but if today's ultrasound reassures you enough, then maybe you won't want to do it." I decided against it yesterday bc he also said that he recommends a 20 week ultrasound bc the baby develops so much more during those 2 weeks. I decided against doing the amnio yesterday bc I am going back in, but I have to admit that I wasn't able to sleep last night and I think I will go ahead and do the amnio just to be sure the next time I go see him. It freaks me out to no end and I really wish I had done the 1st trimester screen.

By the way, my OB says that a 1:150 risk is as if we are 37 yrs old.
Anonymous
Two notes of reassurance: first an amnio is not that bad, as probably you'll hear from tons of others. I had one and it was almost painless and not traumatic in the least, physically or emotionally. So if that's what you need to do for your own peace of mind, then don't sweat the procedure too much.

Second, with kiddo #2 I opted against an amnio. My NT was good - not crazy wild amazing good, but decent enough that I felt okay,... with the added reassurance of an early detailed ultrasound. I think I did the 20w ultrasound at 18w... so that if there was anything to be concerned about, I'd have plenty of time to rethink the amnio thing and still have options available (altho we were not at all sure we would be willing to use those options.) Anyway, that ultrasound was a major boost to my peace of mind.

Note you'll get lots of people telling you that this or another doctor has done a zillion amnios with zero m/c rate. I don't doubt those stories really, but I think anyone who does an amnio has to accept that there is some level of risk involved. I don't say that b/c I'm opposed to amnio - I'd definitely do it again under certain circumstances - but just because no one should ignore even the very small possibility that it can result in a loss of the pregnancy.
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