Can we chat about fetal testing stuff? - Mothering Forums
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#1 of 30 Old 01-17-2008, 04:28 PM - Thread Starter
 
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Okay so got off the phone with the midwife she mentioned two u/s tests one for genetic (two blood tests and one US) around 14 weeks? if I remember correctly and another at 18 (or so weeks forgive my preggo brain) for anotomical (can't spell either) issues.

I have religious issues with termination of most pregnancies so I do see a benefit in being prepared but wanted to know what your thoughts on testing were? Can they see downs from an anotomical c/s?

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#2 of 30 Old 01-17-2008, 04:39 PM
 
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I'm not positive, but she may be referring to the Triple Screen test? I'm seriously considering not doing this one this time around - it has an incredibly high amount of false positives due to dates being off and they will not retest. My feelings for this was b/c with my 2nd son, from the results, they said there was a 1 in 10 chance of Down's and then they were trying to push for an amnio and all sorts of unnecessary things IMO. I did have a level 2 u/s as my DH has a heart condition that could be genetic so they needed to do the fetal echo and all. During the Level 2 they found none of the markers for Down's. I believe that they can only look for markers on the u/s, shape of nose, facial features and so forth.

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#3 of 30 Old 01-17-2008, 04:45 PM
 
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The first test she mentioned is a Nuchal Fold Translucency u/s combined with an intergrated serum blood test (2 part blood test, one draw at X week and the other a few weeks later.) Those three things combined give about a 90% accuracy in detecting a genetic disorder. It is the most accurate, non-invasive genetic screening, but it is not diagnostic. Meaning, if it puts you at a higher risk, you would have to get an amnio to know 100%. If you are unlikely to terminate, personally I don't see much point in such extensive and expensive testing. The NF u/s can only been done by specialized u/s techs, most likely at a Maternal Fetal experts office. If you are "low risk", the intergated serum blood test is probably a good enough screening, though less accurate.

Yes, the 18-20 wk u/s can sometimes detect genetic complications, but not always. Not all babies with Down syndrome have visible markers via u/s. There are several things they will measure and look for, but again, no guarentees.

I have one son with Down syndrome. I did not take any genetic testing in my pg with him and nothing abnormal was detected via u/s. In fact, he wasn't even dx until he aspirated and stopped breathing when he was 3 wks old and we were life-flighted to a children's hospital.

I am 36, will be 37 at the birth. I am not planning on having the NF test or amnio. I'm on the fence about the intergrated serum test. I don't feel it is terribly reliable, but I am curious about the results nonetheless.

I have done a lot of research into genetic testing, so feel free to ask me any questions & I will try to help.

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#4 of 30 Old 01-17-2008, 04:49 PM - Thread Starter
 
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it has an incredibly high amount of false positives due to dates being off
Since I am not sure of what my LMP is there is a likelyhood it would be off anyhow. I'd like to be prepared for any medical issues (heart defects) so I am on the fence...

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#5 of 30 Old 01-17-2008, 04:51 PM
 
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Just adding, the Triple Screen or Quad screen tests are one time blood draws and less reliable than the intergrated serum test. What makes the 2 part test more reliable is that they measure your levels at each test and compare the growth of certain factors. Lemmie find a link... here you go, this explains the process very well: http://www.health.uab.edu/13781/ The blood test can be done without the NF u/s.

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#6 of 30 Old 01-17-2008, 04:56 PM
 
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She is probably referring to the nuccal translucency test (the early one). That is a detailed u/s where the technician looks for markers (specifically the bridge of the nose and the neck, or nuccal (sp?) folds) and also bloodwork. It is not 100% accurate and is only a screen but it gives you odds for various trisomies. It is non-invasive.

As for the level II u/s, I don't know that it really screens for chromosomal issues other than that it can catch certain markers.

Anyway, whether to have testing is a very personal choice and I think you should follow your heart. Many people who do test do so not because they would terminate an "imperfect" pregnancy but because they want to know ahead of time. I do so because I am a worrier and I would want to prepare for life with a child with special needs -- research schools, educate myself, prepare my family, etc.
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how accurate are those tests for multiple pregnancies?
Just curious (will find out if its one, two on Tuesday)

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#8 of 30 Old 01-17-2008, 04:59 PM
 
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They won't doo the blood tests alone with multiples, it is completly inaccurate if there is more than one. You can do NF u/s on multiples, provided the tech can get a clear view of what they need to measure. HTH

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#9 of 30 Old 01-17-2008, 05:11 PM
 
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I do so because I am a worrier and I would want to prepare for life with a child with special needs -- research schools, educate myself, prepare my family, etc.
My thoughts exactly.

I will be 38 in August. I am getting the nuchal translucency test (in the next few weeks), the Quad Screen, and the Level II ultrasound.

Last time (twin pg) I did the quad screen and the level II.

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#10 of 30 Old 01-17-2008, 05:43 PM
 
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I have a history of down syndrome in my family. My brother has it, and it really turned my parents' lives upside down when the found out (after he was born). During my last 2 pregnancies, I had the nuchal fold u/s combined with the blood tests. They came back normal. Then, at my doctor's urge, I had the triple screen/quad screen done. It came back with a very high chance that my second child (my daughter) would have down syndrome. I did not have the amnio because it's so risky. She was born fine, and is completely perfect.

I will not have the triple screen/quad screen done again. It caused all sorts of unnecessary worry, and didn't give us any answers. . . just more concerns. I understand wanting to know if the baby has spina bifida (which is the other thing the quad screen tests for) but it's not worth the worry to me.
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#11 of 30 Old 01-17-2008, 05:54 PM
 
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My doc's office offers the quad screen and the nuchal translucency tests. I did the quad with my DS because that was all they offered. I'm thinking of doing the nuchal translucency test this time around but I'm not sure. It would be nice to see baby on the ultrasound again due to all my worrying.

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#12 of 30 Old 01-17-2008, 06:01 PM
 
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Originally Posted by peacelovingmama View Post
Anyway, whether to have testing is a very personal choice and I think you should follow your heart. Many people who do test do so not because they would terminate an "imperfect" pregnancy but because they want to know ahead of time. I do so because I am a worrier and I would want to prepare for life with a child with special needs -- research schools, educate myself, prepare my family, etc.
That is a good reson to get screened, but unfortunately the majority of people do not test for that reason. Termination rates & prenatal diagnois Over 90% of babies diagnoised with Down syndrome are terminated. I belive this is largely due to parents recieving unbalanced information and excessive urging to terminate from their careproviders rather than seeking to educate themselves first.

I do wish for heathy babies for everyone on this DDC, but know that sometimes unepected news can be a wonderful blessing.

I'm Deborah, mama to Aidan, 11/02, Sean, 9/04 (my T21 SuperBoy), and Eleanor, 8/08.
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#13 of 30 Old 01-17-2008, 06:28 PM
 
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With my first baby, I used an OB practice that was Christian and they informed newly pg mothers that they would not perform these kind of tests and if we wanted them, we would have to go to another practice to get them. The only screening they did was the u/s at 20 weeks to detect anatomical problems. It was fine with me. I knew I wouldn't terminate and there's really nothing I could do during pregnancy if my baby did have a problem. I also knew that sometimes the tests could give false positives and what pg mommy really needs that added worry/stress during pregnancy. Not knowing would be much better for me emotionally than knowing and not being able to do a darn thing about it. I think it would interfer greatly with my ability to bond with the baby and enjoy being pg if I was given bad news like that. I would be sick with worry and that wouldn't be good for me or the baby. This time around, I'm with a different care provider and will decline the tests if they are offered. I will do the 20 week u/s but that's all.
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#14 of 30 Old 01-17-2008, 06:50 PM
 
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Originally Posted by MySunflowerBoys View Post
That is a good reson to get screened, but unfortunately the majority of people do not test for that reason. Termination rates & prenatal diagnois Over 90% of babies diagnoised with Down syndrome are terminated. I belive this is largely due to parents recieving unbalanced information and excessive urging to terminate from their careproviders rather than seeking to educate themselves first.

I do wish for heathy babies for everyone on this DDC, but know that sometimes unepected news can be a wonderful blessing.
I know you are right about those statistics and about unbalanced information. In fact, when I had my amnio last time, the genetic counselor talked a lot in terms of "ending" the pregnancy if they detected a "problem" or "issue." I had to keep telling her that we weren't planning a termination. It was/is sad.

Anyway, I wish healthy babies for everyone too and I'm sure you are right about unexpected news ending up being a wonderful blessing. Your boys are beautiful (I checked out your slideshow)!
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#15 of 30 Old 01-17-2008, 07:59 PM
 
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We won't be doing any fetal testing. I would never terminate a pregnancy and I have seen what false positives can do to families. There is no family history to suggest that there might be a problem and I would never do any of the more invasize test if they found something on and initial screenings so I would just spend the rest of the pregnancy a nervous wreck. Not worth it for us.

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#16 of 30 Old 01-17-2008, 08:14 PM
 
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My mom was part of the testing that help develop the blood test when she was pregnant with my little brother.
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#17 of 30 Old 01-17-2008, 08:15 PM
 
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I don't do those types of testing because they can have a high rate of false positives.
I wouldn't choose to terminate.
The tests can be dangerous and cause miscarriage.

So I just don't do them. Its really a personal choice but you should look at the risks and benefits. Find out what the tests will give you. What the chances are of anything actually being wrong. Get all the information you can and then make your own decision.

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Originally Posted by Pyrodjm View Post
We won't be doing any fetal testing. I would never terminate a pregnancy and I have seen what false positives can do to families. There is no family history to suggest that there might be a problem and I would never do any of the more invasize test if they found something on and initial screenings so I would just spend the rest of the pregnancy a nervous wreck. Not worth it for us.
:

I might do a non-invasive test if I had risk factors, but I'd just do more reading on how to take care of a child with whatever tested as positive.
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#19 of 30 Old 01-17-2008, 08:27 PM
 
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I know that the triple screen and quad screen blood tests have high rates of false positives, but my understanding is that most of these are due to incorrect dating of the pregnancy. If you know exactly when you conceived, what does that do to your chances of a false positive? My pregnancy happened via donor insemination, so there is absolutely no question about the date.

I'm considering doing the blood test, basically in hopes that it will be negative and put my mind at ease. Probably wouldn't do an amnio even with a positive, if the false positive rate is very high, but I'm wondering how accurate it is if you're sure of your dates...

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#20 of 30 Old 01-17-2008, 08:44 PM - Thread Starter
 
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I used an OB practice that was Christian and they informed newly pg mothers that they would not perform these kind of tests and if we wanted them, we would have to go to another practice to get them.
I think its good they are upfront and state what their view point is from the get go it probably makes a lot of mothers think.

I may do the tests but I'd ignore the results...so maybe there's no point.

I had my parent teacher interview today for my 3yr olds preschool and was told - no big surprise to me - he's cognatively delayed born a month early oxygen deprived at birth...(but socially and emmotionally above average).

I realise that I cannot emmotionally put myself in a position where I'd even have those thoughts if things came back wonky and if they came back 100% okay it still doesn't mean you couldn't get surprise at birth. I think I'll just do the anatomical as if it was a ds child they do often have heart issues(?) and stuff that would need to be prepared for ahead of time..

but not to the point that people might question hey if you knew you could have....yeah don't need that. They are born we love them when they are incapable of anything and that's enough for me.

Okay I think I am going to cry (hormones)

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#21 of 30 Old 01-17-2008, 08:55 PM
 
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The newer test, with the sonogram and blood test, is non-invasive, but non-diagnostic. If it raised concern, you'd need an amnio to find out.

I'm not doing any tests except the routine 20 week screening sonogram. I don't have risk factors and wouldn't terminate a downs syndrome baby. I feel like the tests would be anxiety-producing and could lead to false alarm and I personally wouldn't take on the risk of an amnio, so what's the point?

My midwife offered, I declined, no biggie.
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#22 of 30 Old 01-17-2008, 10:25 PM
 
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Okay, well, just in case there's anybody else out there this might help, I am doing the standard protocol because I would consider termination, depending on the disorder. We are doing the NT scan and blood tests, and if those come out fine just doing the 20 week u/s. If they show elevated odds, we'll go to an amnio. I feel fine about the risk of miscarriage, and find most of the rumors about the risk of false positives to be just fear mongering. It's a very accurate, very safe test that I am glad is out there if I need it.

My next door neighbor, a close friend, has a child with Down's and is heavily involved in getting expecting parents information about living with Down's since as you all say the information out there is heavily unbalanced. So I've got plenty of information, but I would want to be allowed to make a choice, if the information becomes available to me.

Peace to all of you- I do think OBs sort of railroad us into taking all these tests without anybody stopping to wonder why.
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#23 of 30 Old 01-18-2008, 12:30 AM
 
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Originally Posted by AngelaM View Post
I know that the triple screen and quad screen blood tests have high rates of false positives, but my understanding is that most of these are due to incorrect dating of the pregnancy. If you know exactly when you conceived, what does that do to your chances of a false positive? My pregnancy happened via donor insemination, so there is absolutely no question about the date.

I'm considering doing the blood test, basically in hopes that it will be negative and put my mind at ease. Probably wouldn't do an amnio even with a positive, if the false positive rate is very high, but I'm wondering how accurate it is if you're sure of your dates...
I knew the exact date of conception for my last pregnancy. My husband and I had had sex once within the possible range for pregnancy for me. . . and I just knew when I'd ovulated, too. I had a false positive (or, rather, a false 'high risk' diagnosis). It was AWFUL. We were so worried for the rest of my pregnancy that something was wrong. Nothing was. My daughter is now sitting next to me and is 100% perfect.
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I'm open to testing but not the invasive ones. I'm scared. I do want to do the testing for Down syndrome b/c my child's father would want me to terminnate. I'm not sure how I would feel about that at this point but I would like to know. I guess my thing is, historically all the women in my family have had healthy pregnancies with no issues with the child, I'm 26 and in great health so I wonder if my chances of a child with a disorder are slightly lower but then again, you never know so I don't want to rule it out...

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We'll do the nuchal test because its so easy and non-invasive. And my understanding is that sonogram together with the blood draw has a very high level of predicting problems - a much lower rate of false positives. We'll go from there. Most likely it'll come back that our chances are 1 in 5000 or something so we'll forgo any more testing. But that is a decision we'll make depending on the results.
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#26 of 30 Old 01-18-2008, 02:23 PM
 
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There was never any question of when we conceived my last LO and we received a false positve for downs. The lab messed up the tests somehow. I was told at 16 weeks that the quad screen came back normal and there was no problems. I went back in at 20 weeks and was told that the lab messed up running the 1st test and re-ran it and now I was showing a 1 in 40 chance of the baby having downs. We did the level 2 ultrasound and the doc saw some indications of something being wrong so we did the amnio. I was also told that if we chose to terminate we would have to go to CA because the cut off date here is 20 weeks. Of course it took almost 2 weeks to get the amnio results. That was a horrible wait! All of this to find out that there was nothing wrong with my baby!

I will NEVER do it again!
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[QUOTE=Shiloh;10314362
I think I'll just do the anatomical as if it was a ds child they do often have heart issues(?) and stuff that would need to be prepared for ahead of time..[/QUOTE]

Popping in from my Mom's house...

40% of children with Ds have heart complications, not all are detected on u/s. My son has an ASD heart defect and it wasn't discovered until he was 3 weeks old. It is very small and hasn't required medication or surgery, just annual echo's to keep an eye on it.

It is a tough desicion. When he was dx, I immediatly was angry with myself for not doing the blood screening. I thought "I could of prepared myself! What if he would of had major health problems?" As time has gone by, I've realized that not knowing was a huge blessing. I had time to hold and love my baby as who he was before I had to look at him with different eyes that said "he has Down syndrome." When we first were told, it felt like the rug was pulled from under our feet, I suddenly looked at him like he was someone different. It took time to push aside the diagnosis and see the person, but I was grateful to have him and hold him as we grew to know each other.

Every parent I have met that knew prenatally has said that knowing put a great deal of stress on their pregnancy and made it difficult to celebrate the birth. They had so many fears to work through before they could have that time to love their child.

Honestly, they are babies first. They still need to nurse, sleep, get changed and be loved. Infancy gives you time to ease into the diagnosis. My 3 yr old is very much like other 3 yr olds. He gets into mischief, he plays silly games, he wrestles with his daddy and brother, he loves to play with his momma's hair while he snuggles. He teaches us more than we could ever teach him.

I'm Deborah, mama to Aidan, 11/02, Sean, 9/04 (my T21 SuperBoy), and Eleanor, 8/08.
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#28 of 30 Old 01-19-2008, 01:55 AM - Thread Starter
 
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thanks mama you've made me feel relaxed I might do some of the tests but I won't let that dictate my life. You never know what will happen and that's part of the beauty (and stress) of being a mama. I feel so relaxed now.

8 might be enough
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#29 of 30 Old 01-19-2008, 12:48 PM
 
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Originally Posted by hempmama View Post
Okay, well, just in case there's anybody else out there this might help, I am doing the standard protocol because I would consider termination, depending on the disorder. We are doing the NT scan and blood tests, and if those come out fine just doing the 20 week u/s. If they show elevated odds, we'll go to an amnio. I feel fine about the risk of miscarriage, and find most of the rumors about the risk of false positives to be just fear mongering. It's a very accurate, very safe test that I am glad is out there if I need it.

My next door neighbor, a close friend, has a child with Down's and is heavily involved in getting expecting parents information about living with Down's since as you all say the information out there is heavily unbalanced. So I've got plenty of information, but I would want to be allowed to make a choice, if the information becomes available to me.

Peace to all of you- I do think OBs sort of railroad us into taking all these tests without anybody stopping to wonder why.
Yup.
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#30 of 30 Old 01-19-2008, 12:51 PM
 
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Originally Posted by ~Megan~ View Post
The tests can be dangerous and cause miscarriage.
I think when you make statements like this that can cause fear in women who are less informed it is important to be very clear what you are talking about.

The tests that are being generally discussed - blood tests and ultrasounds - do not carry any risk of miscarriage. Since my guess is that you are referring to an amnio which has a 1 in 100 or 1 in 200 (depending which stats you believe) risk of spontaneous miscarriage I really think you should spell it out so that someone doesn't start to panic that their triple screen could cause a miscarriage.

I know that lots of people on MDC would never consider termination and are against all testing but please lets not resort to fear mongering.
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