First Trimester Screening

[mandie1966]

I am 42, 8 weeks pregnant.  I have a child that is 2 1/2.  My Dr. is encouraging me to do the First Trimester screening bloodwork and ultrasound.  I am scared to death of a false positive result as I have various friends whom have experience this and I am not up to the stress with all the IVF tries and infertility issues for years.  Does anyone know how accurate this test is and/or have experience with false positives, etc.  

[VASusan]

We were told by one of the two perinatologists we saw that my baby's risk for downs was one in five based only on my advanced age. We had no screenings done. My OB told me later that they do not even have statistics for risk for my age.  We were counseled before the level 2 ultrasound by a pediatrician who explained everything that would be done to us. He told us that our risk was one in ten for downs.  No markers were found on our level 2 ultrasound which he said made the odds for genetic problems much less, one in 30.
If you're high risk and don't want to do any invasive testing, they can do an EKG on the baby. We did not want to risk doing any invasive tests. The EKG was done at 23 wks and everything looked fine. It's like an ultrasound. Most genetic problems will affect the baby's heart and you will also know if you'll need a pediatric cardiologist at the baby's birth if problems are found.
~Susan

[oceanv]

i'm with you on the amnio....i'm too much of a worry wart for anything else than definitive answers but i have wondered whether there are false positives involved in amnio?? or are they always correct?

to everyone else
my sister had the nuchal measurement done and she was told it was abnormal, was a nervous wreck, made herself sick with worry....... and eventually miscarried anyway..... i have a friend same age as me (was 37 when she got pregnant, they stopped using protection a week before the wedding, first time lucky :-O) anyway she said that if they weren't going to terminate based on the results then she didn't see the point in the testing. i think you have to find your comfort level for the unknown.

Good luck with whatever you choose.
J

[PamelaBee]

This is what I was referring to in my reply to this post when I mentioned NF measurements can be very inaccurate in causing needless worry.  Perinatologists must be skilled with this procedure and have to meet certain requirements and training in order to perform the test...that isn't the question of inaccuracy...the measurement itself which is the final average of 3 (if above the normal scale) often leads one to believe that they are at high risk for downs...so anytime a woman gets a NF measurement of 3.0 or higher the Perinatologist tells them that it can be an indicator for downs. This is where the inaccuracy and false positives (which are high) come in and the invasive tests are offered. My son had a high end NF measurement, (that's what made me nuts) but all his other measurements and findings were normal.  So this one measurement, can really cause a stir!  I can't tell you what to do, but if the NF was the only indicator that there could be a potential problem, and everything else looked fine...I wouldn't worry.  If you are now completely freaked out with this finding, and have to know...the CVS is always an option, otherwise wait til your level II u/s and bloodwork around the 18-20wk mark, and make your decision with those results.  You will still have the option for an amnio at that point.  I'm sorry you're worrying!  Pls keep me posted!  

[pookie1121]

I am pregnant with twins and was 10w+5d last friday when i had a normal US.  And my doctor said although it is too early to measure the nuchal fold, she could see that there was extra fluid around the neck. So she measured it by both babies and one was 3.5mm and the other was 4.1mm.  She didn't do the whole calculation of my risk of DS or chromosonal problems....but told me I should come back this week to do so and that I probably should have CVS too and it was clear that she expected the worst.

So now I am a wreck.  We had no plans of any invasive testing or any testing that cant be conclusive...so we were not even planning on doing these test,...but now that she has made me nuts, I kinda HAVE to know.  

The blood tests that are usually done along with the nuchal fold measurement can not be done with twins....so nuchal fold is only indication of a potential problem....

[adgal]

I am a bit of a worrier, so when it's my time I am going to skip everything and go straight to amnio.  Not the most common thought process around here, but my sil had scary results from other tests, and the amnio showed my nephew was just fine (He was born in April, and is absolutely perfect by the way).  I am not encouraging you to do the same, as the others said, any testing is a highly personal decision, its just what I feel is right for me.  Whatever you decide, the best of luck to you!

[SeeingSpots]

Oops!  I was trying to type (5% or less)... not (%%)!  :)  That's what I get for trying to multi-task and feed my son at the same time.

[SeeingSpots]

SoCalTricia was right about it all.  I had mine and all came back normal, so we skipped doing any risky proceedures like CVS and amnio.  It's actually a several part process.  You get your blood drawn and a nuchal fold ultrasound test.  Then you have to come back several weeks later for another blood test; and finally you have to go back for a level II ultrasound somewhere around 18-20 weeks.  It is with all of these combined that they give you your final score (you'll get a 1st part score after the first blood draw, but these results are then further updated after the second.  Plus the second blood draw tests for a few other disorders).  The rate of false positives for this are relatively small (%% or less), and not every place can do the nuchal fold ultrasound; they have to be specially trained to do it, and they take *many* measurements of the baby's neck to get the average value.  We just chose to do this route first, because there is NO risk to you or the baby, whereas there's a 1/200 chance of miscarriage with the other more invasive types of tests.  

[PamelaBee]

I was 42 when I became pregnant with my son.  At the time, my OB really pushed for me to have a CVS.  I asked if there was anything else I could have done (noninvasive) and the 1st trimester screening was offered.  It's also called a "Sequential screening" as well.  After I had the screening done, 3 days later, the genetic counselor called me and said, "Pam, your numbers aren't very encouraging"  1/24 for downs, and I can't recall the Trisomy results...after that phone call I was a wreck!!!!  I worried every day, until I had my level 2 u/s and bloodwork done around my 18th week.  I am currently 45 and 13 weeks pregnant with our second baby and I was sceduled to have the same screening about 2 weeks ago, and I cancelled at the last minute.  Only because, I remember the stress and needless worry it caused us at the time.  We would not terminate anyway, so it would be a mute subject of having any kind of testing done.  It is a very personal choice...but an excellent option, if you want to know the health of your unborn child, and what you would do with those results.  I know the false positives are off the charts with these screenings, so many women become nervous wrecks with the findings at this early stage and miss the joyous wonder of being pregnant!  Nuchal Fold measurements which are done at the screening, can be very inaccurate with detecting downs, that it can cause needless anxiety.  If you know you would not terminate the pregnancy based on the results you receive from any tests offered to you, than why have them done?  On the other side, if you would terminate and/or want to prepare for a baby with special needs or worse, by all means--test.  BTW, my son will be 2 the end of February and is completely healthy and normal.  Best wishes on your decision!

[SoCalTricia]

Yvette, I think that the "First Trimester Screen" that Mandie is referring to *is the nuchal translucency test, combined with the blood screening tests.

I had mine done week before last...the ultrasound looked good, but no blood results yet. I'm not sure what the rate of false positives are. But, I figure that, along with that, is the risk of a false negative.

Mandie, I think the first trimester screening is supposed to be more of a guideline to help you decide if you want further, more invasive, testing. It's definately not a diagnostic tool, and it's not intended to take the place of a more accurate test like CVS or amnio. It's something you can use to help you make the decision about further testing. I think if you look at it that way, a positive should just be used to guide you...not to be looked at as a "yes" or "no" answer regarding abnormalities. Does that make sense?

[YvetteY]

Hi...I've heard that the blood work they do, like the AFP test, comes back with odd results when you are advance maternal age.   When I was 40 and pregnant, my OB recommended skipping it becuase of the "weird results".  

He did advise the nuchal ultrasound at 11 weeks, however.    

I am 9 weeks pregnant now (above pregnancy resulted in m/c) and I haven't been released to the OB yet, so I am not really sure what they have in mind as far as testing.  I guess when I am released (hoping this one works out for me) I need to see high risk OB doc.  So unfortunately no idea about first trimester tests they'll wnt to do.

As far as ultrasound, that will check the HB of the baby and make sure everything growing accordingly.   Did you get pregnant naturally?   You might want to get the ultrasound done just to make sure embryo is on track.  However, if they see something weird and want you to come back for more ultrasounds that just stresses you out.  That's what I am dealing with multiple u/s because my gestational sac is too small.  

Otherwise the CVS has high risk of miscarriage.   That's about all the first trimester tests I can think of .  I'd skip the blood work if I were you.