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Post by tworiveras on Mar 1, 2006 11:45:08 GMT -5
Hi, my son, Roberto, is 8 years old, and has DS. I am currently expecting baby #5, and am 35 years old. My doctor has told me about this new screening test for trisomy 18 and 21. Do any of you have any personal experience with the reliability of this screening? I had an amnio with my son, so I was able to prepare before I had him. I also had amnios with the next 2 kids, the first because the doctor pushed me to do it, so they knew what they were dealing with. The second, (with a different doctor), I did because the AFP screening suggested an even higher chance than when I was pregnant with my son. I am thinking about just having the NTS screening, and a level 2 ultrasound, and relying on these tests to rule out or confirm DS in this baby. I will, of course keep the baby like my son, but I just like to be prepared so that the birth can be a happy day. Any thoughts? Thanks for listening,
Karen.
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Post by Radonna on Mar 1, 2006 11:58:25 GMT -5
Karen the Nuchal fold screening and blood test at 13 weeks along with the Triple Screen can tell within 90 percent if your baby has a chromosome abnormality. They still have false positives but with all the tests together the false positive rate has went down considerably.
I know that testing is taboo because that so many people choose to not have their babies, but for me the Triple screen and the tests I took held more importance than for Down syndrome. Did you know high AFP can signal fetal distress and that high AFP can also be used with newborn screening to fast diagnosis metabolic disorders. The tests aren't the problem. KNOWLEDGE is not the problem it is the way the results are presented to new parents. High AFP can also indicate spina bifita a now correctable condition when surgery is done in Utero.
The only test that I didn't do was the Amnio because I didn't feel my need to know was worth the risk. But I have very high risk pregnancies.
Best of luck with your pregnancy
Radonna
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Post by kellyds on Mar 1, 2006 12:05:47 GMT -5
I haven't had an amnio with any of my kids, either. With Joshua, though, my doctor asked me to undergo a series of ultrasounds to help with a study he was doing (no expense to me). He was interested because I was going to be 46 when Joshua was born. Joshua passed the nuchal translucency screening AND some sort of measurement of his femur (which can indicate Down syndrome). He had a very low chance of having DS according to the screening . . . but he most definitely HAS it! :-) If you really want to rule it out before birth, an ultrasound and NTS screening probably isn't the way to do it. For some people, it might be worse to be reassured the baby "doesn't" have DS and then find out he does. Joshua's birth was a happy day, anyway, even though we were surprised.  |
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Post by dannysmom on Mar 1, 2006 12:23:54 GMT -5
I was 35 when I got pregnant with my Daniel. I refused the afp because of the high false positive rate. However, I did have several u/s...including a level 2 and the nuchal translucency. Daniel had no markers at all. I was told after passing the tests....my chances were 98% he didn't have Ds (or anything else). We were surprised at his birth...but quickly realized he was perfect, just like God intended him to be.
I have to be honest when talking about testing. I know in my heart that I would have not termed....but I would have opted for an amnio IF Daniel had any markers. I know there are SO many things they can do for the baby while they are inside you (not for Ds...but other conditions) that I would have wanted him to have the best chance for survival. If he would have had markers only for Ds...I wouldn't have risked the amnio...because there is nothing a doc can do...so why risk a miscarriage. That was my thinking......
It is a very personal decision...I wish you all the best of luck with the remainder of your pregnancy...
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Post by momofrussell on Mar 1, 2006 12:30:31 GMT -5
I think you should do with what would ease your mind I guess. Nothing is 100% accurate except the amnio but if it wouldn't change your views.. then why risk it? KWIM? I didn't have an amnio with Reece, who was born after Russell. I DID have the amnio with Russell but at that time in my life... I wanted to know.. but with Reece.. I knew I could do it again LOL! So.. we opted for just the AFP.... no other testing....
Hugs to you.... !!
A.
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Post by andrewsmom on Mar 1, 2006 13:03:10 GMT -5
I agree with A. Do whatever YOU feel comfortable with. I was offered an amnio and told I could have the amnio done up until the day I delivered, which I never knew. I thought an amnio had to be done at a particular time period in your prgnancy. I had made up my mind that I would have the amnio done 3 weeks before my due date, so if anything did happen (not that anything would but there is a risk involved) my son's chances would be very good. I never made it that far in my prgnency as Andrew was born premature.
I also had ultrasound after ultrasound along with a fetal MRI and they could not tell Andrew had DS. I think sometimes things just "happen" for a reason. I think you'll know what to do when the time comes. Trust yourself. And Good Luck!
-Trisha
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Post by wrblack on Mar 1, 2006 14:19:54 GMT -5
We--we, hell -- Lynn had UltraScreen with Robert, Charlie's little brother. Risk of Ds went from approx. 1 in 40 to 1 in 340. And we--well, she at least asked what I thought--decided to pass on amnio. Here's a web page on UltraScreen www.ntdlabs.com/patient_usf.phpSimilar tests offered under different brands, I think. And some include a check of nasal bone. We--there I go again--Lynn had an amnio very late in pregnancy with Charlie. Long story, too long. I asked NICU doctor for karyotype for Robert. And doctor said no indication that was called for but would order just to satisfy me. Boring old 46 XY. Later CHOP doctor recommended FISH assay to rule out 22q deletion for Robert, which test did. He's just got curly hair and a lopsided face like his daddy, who still doesn't really know where his big blue eyes came from. Oh, and don't think amnio is 100% accurate. More like 99.44%. Sorry for the quibble, digressions, and irrelevancies. And congratulations on expecting. Bet Roberto will be a great big bro -- Bob |
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Post by maryc on Mar 1, 2006 16:16:52 GMT -5
I had the nuchal fold test, the quad screen, the level II ultrasound, and an ultrasound at every prenatal visit. I did not do the amnio because I wasn't going to act upon it. Despite all this, all of which were negative in that they didn't increase my odds and in fact recomputed my odds in a favorable way, Anna had Ds. I'm a little sceptical as a result.
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Post by RoseMary on Mar 1, 2006 17:17:36 GMT -5
I'm thinking because all babies are different they all look diff on an u/s aswell.
We had the Nucal Translucensy test along w/ some blood drawn. The results came back high (possitive) for Ds.
Because I had an amnio years ago and it was "nothing" to me, I decided to go ahead and see what we had going.. Sure enough the amnio confirmed that Kristopher has Ds.
I can see how the results can be used negatively, since it's done so early, but there was no way I was acting upon them. I'm just too "impatient" to wait for anything so I had the amnio done.
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Post by hannahsmomuk on Mar 1, 2006 17:27:45 GMT -5
I had nuchal fold test for Rebecca and here in the UK it is coupled with a blood test and told it is 90%, I was told 1 in 800 for Rebecca and she didn't have DS
I never had anything for Hannah
I have had the nuchal fold test done again for the baby I am carrying ( due in 6weeks ) and it came back as 1 in 2400
Incidentally the amnio isn't 100% accurate. We know of a woman who was told that she had a son with DS from the amnio and when he was born he didn't have DS
they are 99% accurate
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Post by momofrussell on Mar 1, 2006 19:24:58 GMT -5
Incidentally the amnio isn't 100% accurate. We know of a woman who was told that she had a son with DS from the amnio and when he was born he didn't have DS
See.. I'd like to know how this happened??? This facinates me! I mean... did the person matching the pairs not match them properly? There was an extra chromosome right? Where did it belong? Could it have been mosaicism? How could it show 3 in pair 21 but not have DS???
FACINATING I TELL YA!!!!! ;D
A.
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Post by Radonna on Mar 1, 2006 23:58:17 GMT -5
A sometimes it is in the number of cells being analyzed . For example a person could have Mosaic Down syndrome and only have very few cells affected if they analysis only so many there is a chance that all those Karo types would come back not showing T21. There is also cases that are thought to be Standard T21 that have been re typed to find that the child is Mosaic because only 5 cells were sampled instead of the standard 20.
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Post by momofrussell on Mar 2, 2006 8:59:06 GMT -5
Yes Radonna.. that is my point.. but it said the amnio said DS.. but when the child was born the child DID NOT have DS?  THAT is what is baffling....Not that the amnio showed NO ds and the child DID have it.. that would make sense.. but how could an amnio show DS and then a child be born and not have it...? In my book.. if ANY cells tested say t21.. then your child would have DS... and yes, probably mosiac. A. |
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Post by Radonna on Mar 2, 2006 9:02:56 GMT -5
I read that the wrong way! Now that is TOTALLY baffling
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Post by momofrussell on Mar 2, 2006 9:06:14 GMT -5
Hey... Hanna's mom.. since this was someone you know... how did they conclude after the child was born the child in fact did NOT have DS? Was it lab error... or did they do another karyotype of the same cells taken again?
A.
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