Not sure what to think? update #20

[MPsSweetie]

I had an ultrasound and bloodwork done last week, I guess it has replaced what used to be the AFP, or something like that. Where they test for downs, trisomy 18, etc, and look for signs on the ultrasound? Sorry, when my other kids were born this wasn't available so its all new to me. Anyway, it was so cool, the baby was so sweet, kicking around, stayed very still for the measurements then had a few hiccups that we got an awesome video of. It really helped to make this pregnancy a little more real for me, I've been having a hard time lately. Major anxiety and depression.
I had my second OB appt this morning... my tests did not come back great. And I don't understand them all. My risk of downs syndrome is 1-31, when its normally something like 1-700ish. I wish I could find a chart of something that shows me the ages and risks and such. My risk of trisomy 18 was something like 1-300 and I guess normal is 1-76, or somewhere around there? She threw out a bunch of numbers at me but of course my mind was pretty much gone by then. She was real nice and stayed with me for a long time, did another in-office ultrasound and said that everything looks okay, good fluid, no weird measurements or anything, but I am still terrified. I don't know what to do next. I have been reading some about these tests and how they can be wrong, but what if its not? Most of my anxiety comes from sickness and its BAD. I can barely take care of a normal healthy kid.... I am just feeling so horrible right now.
My thyroid test also came back abnormal, I may have hyperthyroidism? which would explain some stuff. But man, I am just falling apart here!

[lillymonster]

March of Dimes has a chart

But it's just a risk assessment, not a final answer. There are options such as amnio and cvs testing, depending on what you would do with the answers. There is also a sequential (?) testing which takes nt testing and quad screen and combines them for a more complete picture. But the only 100 percent correct information would be from an amnio.

Have you spoken to a genetic counselor? They should help with options and testing available.

[MPsSweetie]

I had a sequential done, thats what showed the results I think. I just found out this morning and my OB was waiting on a call from a perinatologist, at least I think thats what she said. Still haven't heard from her. I haven't talked to a genetic counselor.
I can't believe this is happening.

[myk]

big hugs! you probably had nuchal transleucency screening, which is an analysis of the baby's neck area. there is a correlation between genetic anomalies such as down syndrome and the transleucency of the neck. it's a screening tool, not a diagnostic tool, so they can just tell you that you have increased odds and further testing may be warranted.

the only way to definitely diagnose a genetic problem before baby is born is through amniocentesis or chorionic villus sampling. the amnio can also detect open neural tube defects. it's your choice whether you want to investigate further. a lot of the time, the screening tools come up with a possible concern that the amnio proves is nothing

[MPsSweetie]

Yes! thats what they did, and the ultrasound was clear, the bloodwork came back with bad news.

[myk]

in that case it was probably the triple screen (alpha fetoprotein and a couple other tests) which also isn't a sure thing. hang in there!

[lillymonster]

Originally Posted by MPsSweetie

Yes! thats what they did, and the ultrasound was clear, the bloodwork came back with bad news.

Sequential testing is done starting at week 15, n/t testing is usually 12-14 weeks. It's not a definite answer, the genetic counselor told me that that the sequential testing is usually down during the anatomy scan at 20 weeks. Again not a final answer - I know women who have had lower than the average odds and had babies that were fine.

[MPsSweetie]

Hmmm, they told me to make sure and turn in the lab sheet for the sequential, thats the only reason I thought I had it done already. I don't know, this round of testing is new to me. It was a lot simpler with my first two.

[QuestionGal]

hugs. try to relax and do a little research about the tests themselves (I believe they have a very high false positive rate), Hopefully that will give you some peace of mind.

[spargel]

I wouldn't base any decisions on the blood tests. So many women have poor numbers and go on to deliver healthy children. If you really want to know, schedule an amnio to get the final word. I chose not to do the blood test because I figured it would make me worry since I'm older which will help skew my numbers. I don't put much value in the blood test....except to make people worry.

[EllisH]

It sounds like you had the combination test: blood tests for two hormones and the nuchal translucency test. It is common to be offered a amniocentesis if the risk on abnormalities is higher than the risks associated with the amnio (1 in 200 or 300; but note that there data out there suggesting the amnio risk is no longer that high!). So any risk higher than 1/200 is labelled 'high risk'. If you indeed want to know whether your baby has Down's, it's probably a good idea to take the amnio. But bear in mind that even though 1/31 is 'high risk', it's still only a 3% risk!

[kerrybennysmama]

I am so sorry to hear you are having to deal with this. Sometimes things come up such as an increased risk and sometimes it is nothing. I know stories of it going both ways. Its still 1 out of 31, so there is still a higher chance that all is well. Sometimes they can do a more detailed ultrasound to look for additional markers. They like to see a nasal bone and as the fetus grows they can look for other markers as well. A genetic counselor can be a great resource of information.

[justduckyangie]

Honestly I don't put alot of faith in the blood work part. With my last I had only the blood work part done and my risk came back 1 in 40 for Downs, similar to yours. She is completely, 100% normal. I really think there is ALOT of false + with that test.

[~Adorkable~]

Remember to looks at the other side of those numbers.

My risk of downs syndrome is 1-31, which means that 96.77% of ladies in your case have a bay with no Downs at all!
My risk of trisomy 18 was something like 1-300 which means that 99.66% of ladies in your case have babies with no issues with this!

Hope that perspective helps a bit, the genetic counselor that I went to made sure to mentions this side to us and it felt good to hear this reality check.

[Artichokie]

.

[SumnerRain]

I have known several women who's doctors told them their numbers were so bad they should abort who went on to have perfectly healthy babies. My best friend went into pre-term labor the day after she got her results, which were something like 1:50 for NTDs. He was born still, and tiny, and perfect. We estimate he was 20 weeks with IUGR from a small placenta. I am certain the stress from those results played a part in her water breaking so early. I also think because he was measuring small, the test was preformed too late in her pregnancy.

I declined to test. My midwife asked me to ask myself "how would the test results change the outcome?" well, it wouldn't. I would not get an amnio, I would not terminate the pregnancy, all it would do is stress me out. We are planning a diagnostic ultrasound at 20 weeks, so if we were to find anything there we could decide if I needed to be risked out of homebirth, and if we would need to go to Tacoma for the NICU.

I am so sorry you ladies are going through this, but the odds are remarkably high nothing will be wrong. I know it is hard to convince yourself this, but your chances of having a healthy baby are still so good!

[MPsSweetie]

I talked to my OB again today, and I had the trisomy 18 risk wrong. Mine is 1-76, which is what they are worried about. I have a level 3 ultrasound on Monday, along with a meeting with a genetic counselor.
I know I am probably just freaking out over nothing. I have always just read the magazine articles that say "over 35 risks", so I really never thought anything like this would come up. I was never going to be pregnant after 35, so what did I have to worry about. This is just a huge shocker. Along with my feeling this whole time that something is wrong, which I have mentioned more than once in here.
It feels good to know we are doing something though. Hopefully we will know more next week.

[m0xxie]

How old are you? This has a huge influence on what numbers you will receive on those screening tests. I'm 43, based solely on my age and without any test results, I have a 1:30 chance of having a baby with one of the genetic defects. I've done the first blood test, and a week from today I am doing the NT scan and will get the preliminary results from the first blood test (these results plus a second blood test done a couple of weeks later will give us more accurate results). Right now I am clinging to the fact that 1:30 means there's a 95% chance everything is perfectly fine.... if I were offered those sorts of odds on the lottery, surely I would play! Whatever the results, I will probably opt for the amnio, just to be sure... since it's a good chance nothing is amiss, I'd really like 6 months of not worrying, I'm sure it will be better for the baby!

[MPsSweetie]

I am 29.
I am just freaked out now. I told dh there is no way I can go back to normal now, without some kind of reassurance, which will probably come in the form of an amnio. Yikes, not something I ever thought I'd have to worry about. But I'll do whatever I can for the peace of mind.
In most ways I know that my odds aren't awful, but they seem SO much worse than normal, it scares me.

[MPsSweetie]

We had a level 3 ultrasound yesterday, and met with a genetics counselor. She mapped our family tree and nothing out of the ordinary came up. And the ultrasound looked good! The nasal bone is calcifying, no thickness of the neck, no heart problems and great blood flow. It was very reassuring to see, and I think it will help me get thru the next week until my amnio. I just have to know if somethings wrong, I can't go into labor unprepared, just how I am.

But anyway, it was so neat to see the baby again! I had gotten so worried last week I convinced myself it was gone. But he was moving around like crazy, sucking his thumb and playing with his hands. All the movement was another good sign also. The dr looked to see if she could tell the sex and she showed us that there is a very good chance its a BOY! Of course I know that could be wrong, but its really making me feel more optomistic about the whole thing.