Monica_in_Switzerland Posted January 14, 2014 Share Posted January 14, 2014 I want to preface by saying that this baby will be loved and welcomed regardless of results. I do prenatal testing because I am a researcher and always figured I'd want 6 months to read up on any potential problems. I had my NT scan at 11w6d, and the measurement was 3.3 (mm I presume). I should have the blood test back at the end of the week in order to assess my "risk level". If the risk is elevated, I know I will refuse an amnio, but am considering the PANORAMA blood test, which we'd have to pay out of pocket. If I'm borderline (mid-level risk) I'll probably just do a 16 and 20 week anomaly scan. And for low risk, it would just be the 20 week scan. Anyone been in my shoes before? It'll be a long wait for the results at the end of the week. Sigh. This is all made harder by the fact that this was an accidental, surprise pregnancy. My husband was already freaked out by having a fourth, and now I'm sort of downplaying all of this testing drama to keep him calm until we actually have some information to plan with. I'm more concerned about my DH's stress level than I am about raising a special needs child! **Update** Blood results show a 1 in 9 risk for T21, so I will be doing the Panorama. Trying to stay focused on the 8 in 9 chance that all is well... Quote Link to comment Share on other sites More sharing options...
Melissa in Australia Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
mumto2 Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
kiwik Posted January 14, 2014 Share Posted January 14, 2014 Hugs Quote Link to comment Share on other sites More sharing options...
Lucy in Australia Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
Harriet Vane Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
StephanieF Posted January 14, 2014 Share Posted January 14, 2014 I had some "bad" results with my second son. I had a one in 30 chance of him having downs. I did have further testing which showed that there was nothing wrong, it was just one of those things. So it is possible to have a bad result but nothing is amiss. The waiting is agony though so I do understand. Stephanie Quote Link to comment Share on other sites More sharing options...
Carrie12345 Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: I had some pretty "bad" results with #5 (also a surprise.) They actually gave him a 1:<4 chance of having Trisomy 18. It was terrifying. I went with the CVS test (which was actually more like a traditional amnio b/c of positioning) still not knowing what we might do with the results. But we knew the numbers were not good at all. When they called us with the results, I couldn't even bring myself to answer the phone. I cried for a long time before playing the message that was left, then bawled when it told me the results were normal, and we were having a boy. Wishing you a similar happy ending. The waiting is so incredibly hard. 1 Quote Link to comment Share on other sites More sharing options...
kroe1 Posted January 14, 2014 Share Posted January 14, 2014 I was older when DD 13 was conceived. The standard blood test showed a 1:2 or 1:7 chance of Down's. I cannot remember which. I elected to have amniocentesis, although I can see why many would not choose this option. Ultrasounds are much better today than even 13 years ago. Hugs. Quote Link to comment Share on other sites More sharing options...
Melinda in VT Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: I had some pretty "bad" results with #5 (also a surprise.) They actually gave him a 1:<4 chance of having Trisomy 18. It was terrifying. I went with the CVS test (which was actually more like a traditional amnio b/c of positioning) still not knowing what we might do with the results. But we knew the numbers were not good at all. When they called us with the results, I couldn't even bring myself to answer the phone. I cried for a long time before playing the message that was left, then bawled when it told me the results were normal, and we were having a boy. Wishing you a similar happy ending. The waiting is so incredibly hard. My fourth child was diagnosed with a cystic hygroma and fetal hydrops at 11 weeks. The specialist told us we had a less than 1% chance that this child would survive more than a day. I chose to get a CVS, wait the week for the full results, and get a repeat ultrasound on the day the results came back. The results were normal, and the repeat ultrasound showed that the hygroma was smaller than it had been (in absolute as well as relative terms). I had another ultrasound at 16 weeks and a fetal echocardiogram at 20 weeks. Both of those looked completely normal. The child is now 8 and full of zest for life. Other than being the world's pickiest eater, he's as normal as the rest of us. ;-) :grouphug: Quote Link to comment Share on other sites More sharing options...
Deee Posted January 14, 2014 Share Posted January 14, 2014 Prenatal screening for Down syndrome was my PhD topic back in the early 90s. I know the risk algorithm well! Nuchal translucency is only one factor, and is certainly not definitive. Your risk will be determined by a blood test, combined with your maternal age. Maternal age carries a lot of weight in the algorithm, so if you are over 30, with an increased NT your risk will be high. I don't know the current false positive rate (pregnancies that screen positive for DS but where the pregnancy is unaffected) because I haven't worked in the area for a long time, but its usually around 5%, or 1 in 20. Really, the only definitive diagnosis available is a karyotype from either CVS or amniocentesis. Many families decide to get a definitive diagnosis even if they fully intend to go ahead with the pregnancy so that they can be well prepared when the baby arrives. Have you spoken with a genetic counsellor? D Quote Link to comment Share on other sites More sharing options...
indigomama Posted January 14, 2014 Share Posted January 14, 2014 I have never dealt with this, but a friend in the last year had a 1 in 6 chance. Her baby was born with no issues. Like everyone has said it is only one factor and I don't think very accurate. Quote Link to comment Share on other sites More sharing options...
Monica_in_Switzerland Posted January 14, 2014 Author Share Posted January 14, 2014 :grouphug: I had some pretty "bad" results with #5 (also a surprise.) They actually gave him a 1:<4 chance of having Trisomy 18. It was terrifying. I went with the CVS test (which was actually more like a traditional amnio b/c of positioning) still not knowing what we might do with the results. But we knew the numbers were not good at all. When they called us with the results, I couldn't even bring myself to answer the phone. I cried for a long time before playing the message that was left, then bawled when it told me the results were normal, and we were having a boy. Wishing you a similar happy ending. The waiting is so incredibly hard. Oh that would have been terrifying! I am not even letting myself think about the other trisomies out there that are not compatible with life. I'm so glad all was well in the end for you!!! Prenatal screening for Down syndrome was my PhD topic back in the early 90s. I know the risk algorithm well! Nuchal translucency is only one factor, and is certainly not definitive. Your risk will be determined by a blood test, combined with your maternal age. Maternal age carries a lot of weight in the algorithm, so if you are over 30, with an increased NT your risk will be high. I don't know the current false positive rate (pregnancies that screen positive for DS but where the pregnancy is unaffected) because I haven't worked in the area for a long time, but its usually around 5%, or 1 in 20. Really, the only definitive diagnosis available is a karyotype from either CVS or amniocentesis. Many families decide to get a definitive diagnosis even if they fully intend to go ahead with the pregnancy so that they can be well prepared when the baby arrives. Have you spoken with a genetic counsellor? D Hi D, Thank you for the detailed answer! I am 31, so I am right on the edge of moving to higher risk. My blood test will be back hopefully by Friday and I hope to have some peace of mind or at least a clear path from there. Have you heard of the Panorama blood test? There are a few out there under various brand names, but this is the one our lab offers. They are brand new maternal blood tests that can detect fetal DNA in mom's blood. The clinical data is staggering in their accuracy. Since it used to be your field, you might find it interesting! From what I read the NT+blood still has a 5% false positive rate. Thank you to everyone for support and love. I will update when I have my blood results. Quote Link to comment Share on other sites More sharing options...
elfgivas Posted January 14, 2014 Share Posted January 14, 2014 :grouphug: knowledge is better than ignorance..... but not always as comfortable. we had amnio's done due to my age (i was 10 years older than you when dd#4 was born). we did meet with a genetics councellor and that helped. she knew which tests were most accurate, and which labs, too. off to read about the PANORAMA test. ann Quote Link to comment Share on other sites More sharing options...
Ravin Posted January 14, 2014 Share Posted January 14, 2014 Yeah, this thread reminds me why I refused that test in both my pregnancies. 1 Quote Link to comment Share on other sites More sharing options...
littlebug42 Posted January 14, 2014 Share Posted January 14, 2014 I had this happen when I was pregnant with Boo-Boo. I also refused any invasive scanning due to my miscarriage history. I allowed them to do a level 3 ultrasound where they looked for physical markers that could be indicative of Down's. The only thing they found was a clubfoot which she did indeed have. No other markers. She was born perfectly healthy, except for her foot. ETA: Also, just as an aside, if I were to ever get pregnant again, there is no way I would go see a genetic counselor again. The one I saw had little respect for my decision to not have an amnio and basically terrorized me for a while trying to get me to agree to one. My OB supported me and I was finally able to get them to leave me alone. My pregnancy was already miserable and scary and she did her absolute best to make it worse. Quote Link to comment Share on other sites More sharing options...
elfgivas Posted January 14, 2014 Share Posted January 14, 2014 I had this happen when I was pregnant with Boo-Boo. I also refused any invasive scanning due to my miscarriage history. I allowed them to do a level 3 ultrasound where they looked for physical markers that could be indicative of Down's. The only thing they found was a clubfoot which she did indeed have. No other markers. She was born perfectly healthy, except for her foot. ETA: Also, just as an aside, if I were to ever get pregnant again, there is no way I would go see a genetic counselor again. The one I saw had little respect for my decision to not have an amnio and basically terrorized me for a while trying to get me to agree to one. My OB supported me and I was finally able to get them to leave me alone. My pregnancy was already miserable and scary and she did her absolute best to make it worse. littlebug, i am so sorry you had that experience! yikes! our experience was the opposite of yours, in almost every aspect. ie. it can be different. like any job, i guess there are good ones, and the other kind. hugs, ann Quote Link to comment Share on other sites More sharing options...
littlebug42 Posted January 15, 2014 Share Posted January 15, 2014 littlebug, i am so sorry you had that experience! yikes! our experience was the opposite of yours, in almost every aspect. ie. it can be different. like any job, i guess there are good ones, and the other kind. hugs, ann Thanks, Ann. I realize that it is not all genetic counselors that are that way but unfortunately, one bad experience can sometimes color your opinions for a lifetime. I am not planning any more babies so shouldn't need to go there again. I hope no one else ever has those experiences. Quote Link to comment Share on other sites More sharing options...
Monica_in_Switzerland Posted January 15, 2014 Author Share Posted January 15, 2014 I had this happen when I was pregnant with Boo-Boo. I also refused any invasive scanning due to my miscarriage history. I allowed them to do a level 3 ultrasound where they looked for physical markers that could be indicative of Down's. The only thing they found was a clubfoot which she did indeed have. No other markers. She was born perfectly healthy, except for her foot. ETA: Also, just as an aside, if I were to ever get pregnant again, there is no way I would go see a genetic counselor again. The one I saw had little respect for my decision to not have an amnio and basically terrorized me for a while trying to get me to agree to one. My OB supported me and I was finally able to get them to leave me alone. My pregnancy was already miserable and scary and she did her absolute best to make it worse. My littlest one was born with bilateral club feet! What a coincidence! Personally, I don't think I would see a genetic counselor. I'm not sure what new information they could add to the table. I understand statistics and the test options are easy enough to read about. I'm sorry you had such a negative experience. I'm hoping to avoid that! If I end up going in for a level II or III ultrasound, our local hospital has a wonderful doctor who does all ultrasound diagnostics. He is the one who let us know about the club feet and I trust him to be clear and helpful. Quote Link to comment Share on other sites More sharing options...
littlebug42 Posted January 15, 2014 Share Posted January 15, 2014 Monica, I pray that all goes well for you and this is nothing more than a little blip. I hope your mind can be set at ease soon. Quote Link to comment Share on other sites More sharing options...
Tammyla Posted January 15, 2014 Share Posted January 15, 2014 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
Irishmommy Posted January 15, 2014 Share Posted January 15, 2014 I have been in that situation and was really glad I did more testing. I wanted to be sure to prepare adequately for my baby's special needs. I was planning on delivering at a level 2 hospital, but would need to switch to a level three (one with a strong nicu). I also wanted to have specialists on hand if surgery was needed. That is why I wanted more testing. Quote Link to comment Share on other sites More sharing options...
Irishmommy Posted January 15, 2014 Share Posted January 15, 2014 And ((hugs)). There is nothing more terrifying than suspecting your baby might have problems. Quote Link to comment Share on other sites More sharing options...
tabinfl Posted January 15, 2014 Share Posted January 15, 2014 I had an ultrasound show a marker for potential problems, and my doc reminded me to look at the odds the other way around while I was awaiting further test results. That is, even if the marker meant my risk was elevated threefold (I forget the exact numbers), say that was 3 out of 1,000 instead of 1, there are still 997 babies out of 1,000 that without any problems at all. Our girl turned out just fine; the abnormality disappeared by the time I followed up with a specialist. I also opted not to have the amnio, but we did pay for blood tests out of pocket, and the results ended up being very reassuring. My baseline risk was far lower than average according to the blood tests, so even the elevated risk indicated by the u/s result put us in comfortable territory, worry-wise, especially for my age. Ours was also a "bonus baby" situation, and we had 6 month old twins at the time of the abnormal u/s, so I can sympathize somewhat with the added stress of that kind of situation. Quote Link to comment Share on other sites More sharing options...
MyLittleWonders Posted January 15, 2014 Share Posted January 15, 2014 I did very little prenatal testing with any of my four, and am not familiar with the NT screening, but I have an amazing three year old girl with Down syndrome sleeping next to me right now and if you ever want to chat, please feel free to message me. Quote Link to comment Share on other sites More sharing options...
MyLittleWonders Posted January 15, 2014 Share Posted January 15, 2014 Oh, and she was our fourth and a bit of a surprise herself. It took me two months to admit I was pregnant (God and I had many chats) and I think dh's jaw hit the ground when I told him. I actually think our dealing with just me being pregnant made the Ds diagnosis so easy to roll with; if we could muster the faith that having a fourth was a *good* thing, then we could face any other obstacles that came. (She was a post-natal diagnosis, not that it would have matter one bit.) Quote Link to comment Share on other sites More sharing options...
Monica_in_Switzerland Posted January 15, 2014 Author Share Posted January 15, 2014 I did very little prenatal testing with any of my four, and am not familiar with the NT screening, but I have an amazing three year old girl with Down syndrome sleeping next to me right now and if you ever want to chat, please feel free to message me. This is very comforting. I know a DS dx is not the end of the world, but boy, the wait is going to kill me! 1 Quote Link to comment Share on other sites More sharing options...
Ipsey Posted January 15, 2014 Share Posted January 15, 2014 This is very comforting. I know a DS dx is not the end of the world, but boy, the wait is going to kill me! Fierce hug! I know this wait is hard. You're in my thoughts! Quote Link to comment Share on other sites More sharing options...
MyLittleWonders Posted January 15, 2014 Share Posted January 15, 2014 This is very comforting. I know a DS dx is not the end of the world, but boy, the wait is going to kill me!I have to say I am actually glad I didn't know because the waiting would have been so hard. The upside to knowing there's a possibility prenataly is you can check for heart issues and such ahead of time (dd thankfully didn't have any heart issues; I just had a standard u/s and then she had a cardio appointment at about six weeks old). If you are open for diet/nutrition ideas, there are some things that might help prenataly, for instance choline and such that is good for brain development and health. Somehow my body knew because I ate more eggs and drank more coconut milk while pregnant with dd than I ever did with any of my boys. I will keep you in my prayers. Try not to let your thoughts run away from you. Quote Link to comment Share on other sites More sharing options...
bettyandbob Posted January 15, 2014 Share Posted January 15, 2014 My surprise baby was born with an extra special chromosome. He's 12. It's not all roses. He is far from the most difficult child to raise--I know because the most difficult child to raise is also in my house. Anyway, I hope your pregnancy progresses well and if your baby does have T21 know that amazing resources are available to help you on the journey. 1 Quote Link to comment Share on other sites More sharing options...
Insertcreativenamehere Posted January 15, 2014 Share Posted January 15, 2014 Our fourth child was also a big surprise. My nuchal translucency scan was so extremely abnormal that they doubted he'd survive. I was sent to high-risk doctors who determined he had T21 and closely monitored my pregnancy. He is now 20 months old and is an absolute delight! He does have a number of health problems that he will likely outgrow in early childhood, but he is the happiest, most loving child and we all adore him. Quote Link to comment Share on other sites More sharing options...
elfgivas Posted January 15, 2014 Share Posted January 15, 2014 this australian website had some good info on the panorama test, including the 5% false positive rate. http://www.vcgs.org.au/clinical/Documents/PDF/VCGS_PanoramaTest_Brochure.pdf i know you said you would refuse an amnio, but i wasn't certain why? was it the miscarriage risk? or ??? i think in switzerland they financially cover amnio or CSV? many hugs, ann Quote Link to comment Share on other sites More sharing options...
Monica_in_Switzerland Posted January 15, 2014 Author Share Posted January 15, 2014 this australian website had some good info on the panorama test, including the 5% false positive rate. http://www.vcgs.org.au/clinical/Documents/PDF/VCGS_PanoramaTest_Brochure.pdf i know you said you would refuse an amnio, but i wasn't certain why? was it the miscarriage risk? or ??? i think in switzerland they financially cover amnio or CSV? many hugs, ann Hi, thanks for the link! I saw the mention that false positives can occur, but not at a rate of 5%. Is that marked somewhere that I didn't see? If you look at Panorama's website, the only errors in the clinical trials were false negatives assosciated with mosaic presentations. I don't want amnio/CVS for two reasons- one is the risk involved, one is that I am very, very, needle phobic. I also have an anterior placenta, which can make them more tricky. Quote Link to comment Share on other sites More sharing options...
Monica_in_Switzerland Posted January 15, 2014 Author Share Posted January 15, 2014 I have to say I am actually glad I didn't know because the waiting would have been so hard. The upside to knowing there's a possibility prenataly is you can check for heart issues and such ahead of time (dd thankfully didn't have any heart issues; I just had a standard u/s and then she had a cardio appointment at about six weeks old). If you are open for diet/nutrition ideas, there are some things that might help prenataly, for instance choline and such that is good for brain development and health. Somehow my body knew because I ate more eggs and drank more coconut milk while pregnant with dd than I ever did with any of my boys. I will keep you in my prayers. Try not to let your thoughts run away from you. I was just reading about cholate on the downsyndromepregnancy website and was very interested in supplementation. Do you happen to know which of the many forms of cholate is recommended? There's a million different supplement types out there! Quote Link to comment Share on other sites More sharing options...
MyLittleWonders Posted January 15, 2014 Share Posted January 15, 2014 I was just reading about cholate on the downsyndromepregnancy website and was very interested in supplementation. Do you happen to know which of the many forms of cholate is recommended? There's a million different supplement types out there! Let me ask and I'll let you know. :) Quote Link to comment Share on other sites More sharing options...
Joyofsixreboot Posted January 15, 2014 Share Posted January 15, 2014 My #6 was an abnormal scan and she is fine. (((hugs)))) Quote Link to comment Share on other sites More sharing options...
littlebug42 Posted January 15, 2014 Share Posted January 15, 2014 Praying that all is well. Quote Link to comment Share on other sites More sharing options...
MysteryJen Posted January 15, 2014 Share Posted January 15, 2014 My third was also a surprise baby and my bloodwork had a 1 in 20 chance of Downs. We chose to have an amnio done. It was a terrible and stressful time. No Downs, just a great, weird kid. :grouphug: :grouphug: to you. Quote Link to comment Share on other sites More sharing options...
ErinE Posted January 15, 2014 Share Posted January 15, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
KRG Posted January 15, 2014 Share Posted January 15, 2014 My lab work for my last baby showed 1:7 for Spina bifida. I was almost 40. We did genetic counseling which was not that big a deal. We just gave a basic medical history of both sides of our family. I saw a perinatologist every month and had ultrasounds that showed he was fine. I declined the amnio. He was born without any problems. (((hugs))) to you! Quote Link to comment Share on other sites More sharing options...
Melissa in Australia Posted January 15, 2014 Share Posted January 15, 2014 My sister had a 1 in 8 chance of having a baby with Downs syndrome. her Dr was pressuring her to abort. she decided then and there to stop having any further tests and had a perfectly healthy boy 6 months ago. 1 Quote Link to comment Share on other sites More sharing options...
Melissa in Australia Posted January 15, 2014 Share Posted January 15, 2014 :grouphug: :grouphug: :grouphug: Quote Link to comment Share on other sites More sharing options...
melmichigan Posted January 15, 2014 Share Posted January 15, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
SweetMissMagnolia Posted January 17, 2014 Share Posted January 17, 2014 :grouphug: Quote Link to comment Share on other sites More sharing options...
Erikaoharaa Posted June 6, 2021 Share Posted June 6, 2021 On 1/14/2014 at 1:20 AM, Monica_in_Switzerland said: I want to preface by saying that this baby will be loved and welcomed regardless of results. I do prenatal testing because I am a researcher and always figured I'd want 6 months to read up on any potential problems. I had my NT scan at 11w6d, and the measurement was 3.3 (mm I presume). I should have the blood test back at the end of the week in order to assess my "risk level". If the risk is elevated, I know I will refuse an amnio, but am considering the PANORAMA blood test, which we'd have to pay out of pocket. If I'm borderline (mid-level risk) I'll probably just do a 16 and 20 week anomaly scan. And for low risk, it would just be the 20 week scan. Anyone been in my shoes before? It'll be a long wait for the results at the end of the week. Sigh. This is all made harder by the fact that this was an accidental, surprise pregnancy. My husband was already freaked out by having a fourth, and now I'm sort of downplaying all of this testing drama to keep him calm until we actually have some information to plan with. I'm more concerned about my DH's stress level than I am about raising a special needs child! **Update** Blood results show a 1 in 9 risk for T21, so I will be doing the Panorama. Trying to stay focused on the 8 in 9 chance that all is well... Hi! I’m currently in the same shoes with twins. Baby A scan is 3.0 and baby B scan is 3.3. waiting my panorama results to come in. Preparing myself for this unexpected adventure. Did all turn out well??!? I’m super anxious ! Quote Link to comment Share on other sites More sharing options...
Harriet Vane Posted June 6, 2021 Share Posted June 6, 2021 Holding you and your darling baby in prayer. 1 Quote Link to comment Share on other sites More sharing options...
Ditto Posted June 6, 2021 Share Posted June 6, 2021 I am thinking of you and your babies. Hugs. Quote Link to comment Share on other sites More sharing options...
pinball Posted June 6, 2021 Share Posted June 6, 2021 This is an old thread...I’m pretty sure the baby in the 1st post is the 6 yo son in Monica’s signature. i hope the new person who posted today can get some answers and her babies are OK 4 Quote Link to comment Share on other sites More sharing options...
Ausmumof3 Posted June 7, 2021 Share Posted June 7, 2021 5 hours ago, Erikaoharaa said: Hi! I’m currently in the same shoes with twins. Baby A scan is 3.0 and baby B scan is 3.3. waiting my panorama results to come in. Preparing myself for this unexpected adventure. Did all turn out well??!? I’m super anxious ! I hope your babies are ok 😞 1 Quote Link to comment Share on other sites More sharing options...
maize Posted June 7, 2021 Share Posted June 7, 2021 5 hours ago, Erikaoharaa said: Hi! I’m currently in the same shoes with twins. Baby A scan is 3.0 and baby B scan is 3.3. waiting my panorama results to come in. Preparing myself for this unexpected adventure. Did all turn out well??!? I’m super anxious ! The nuchal fold scan was concerning with my last baby so my midwife ordered the Panorama test. In my case the Panorama results were very reassuring; that baby is a perfectly healthy four year old. I hope you get similar reassurance, I understand the anxiety. 4 Quote Link to comment Share on other sites More sharing options...
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