Thursday, August 7, 2008

Scary quad screen - False Positive for Trisomy 18 and SLOS

So most of you that read this blog already know this story, as it happened a long time ago, and this blog is really to update family and friends. But I'm writing this anyway, mainly because when I went through this, I couldn't find a whole lot of info out there. And it was terrifying. And all the info I could find didn't apply to me very well. And all the stories I could find of people in a similar situation ended with a very sick baby. So I just feel like I should put my story out there. So here it goes.

Jason and I initially decided that we didn't want to go through any genetic screening tests. We knew that they weren't really diagnostic, that they really just gave you a ratio stating your chances of having a baby with various diseases. During the first trimester, this screening involves a level II ultrasound, several hours of your life, blood tests, and possibly a lot of expense...so that seemed like more of a pain than it was worth. Especially because the main disorder you hear about with these screenings is Downs Syndrome, and there are many happy Downs babies in this world. Also, if the tests do show an increased risk of something, the next step is an amnio, which carries a risk of miscarriage. In our heads, the worst case scenario was that the tests would show that we had say a 1 in 100 chance of having a Downs baby. Amnio's can carry somewhere around a 1 in 200 chance of miscarriage. So we knew that even if the tests did show an increased risk for Downs, we wouldn't risk an amnio. The benefit of knowing just didn't seem worth the risk. Plus, I'm 27. Not exactly a spring hen, but not anywhere close to the age where you really see increased risks of these things. Given all that, the genetic screening tests just didn't seem worth the hassle and worry.

But then I went to an appt by myself. And I was a little bit overwhelmed. And the midwife asked if I wanted this test, which was just a blood test...and since I already needed to have my blood drawn, it wouldn't even require an extra stick. And this test looked for neural tube defects, and I knew that with neural tube defects, a new baby can need a lot of corrective surgery... And the midwife made me feel like it was standard. So I caved. I let them test my blood. After all, it would cost me approximately 8 seconds, just the time it took to fill an extra tube. This was on a Friday, and I was 16 weeks along at this point.

The following Tuesday, Jason calls me at work around 6pm to let me know that he just checked our home voicemail, and that one of the nurses had called and asked me to call back. And that she'd actually called Monday, and he'd just gotten the message. She left her pager number. At first I couldn't figure out why a nurse was calling me. Then it dawned on me. It had to be about the screening. I ran through all the other options in my head, and none of them made sense. The nurse wouldn't call to reschedule an appt, or at least they hadn't the last time I'd had to have one rescheduled. The nice lady at the front desk did that. The other blood I'd had drawn was for a research study, and they weren't looking for anything in my blood that would warrant a phone call. I hadn't had any other tests done. What else could it be?

So I call the pager number over and over again. I have Jason try. But it's after hours. And I'm not having an emergency. I'm just going nuts. So it really wasn't appropriate to call the midwife or OB on call. They were probably doing important things like delivering babies. And Jason is convinced that I'm just worried about nothing, that they really are just calling to reschedule my next appointment. So after crying and worrying myself sick, I manage to calm down enough for the night.

Wednesday I get up as early as they open though and call the nurse. Finally I get through. And I was right, my screening had showed troubling results. But not for Downs or neural tube defects. My chance of having a baby with either of those was incredibly low. Instead, I showed increased risk for Smith-Lemli-Opitz Syndrome (SLOS) and also for Trisomy 18. The nurse though obviously isn't trained in genetic counseling though, and doesn't want to give me any extra info until I talk to the genetic counselor. I can't really blame her for that. What did suck though is that she actually gave me the WRONG info. She said I showed an increased risk for Trisomy 13. They don't actually screen for Trisomy 13 with the quad screen.

Anyway, she told me I should make an appointment for a level II ultrasound and a possible amnio for as soon as possible. So after some hassle, I got through to the people making the appointments. The first available thing they had was for that Friday afternoon...which meant I had to wait. The waiting was excruciating.

The nurse did give me enough info though that Jason and I could Google stuff for hours trying to figure out what the deal was. After some research, we assumed that what I heard as "smith lemon something or other" had to be SLOS, which is a genetic disease where the body can't make cholesterol, and causes mental retardation and other health problems. We researched Trisomy 13 as well, and found out that a diagnosis of Trisomy 13 would be devastating. Of the few babies that are born alive with Trisomy 13, very few survive the first year. We knew that they'd tested my blood, and the nurse said that one of the hormones they'd tested was AFP. What the nurse said beyond this, I couldn't remember by the time I got off the phone. I do know that after lots of research, we still weren't sure which test we'd had given all the info we knew.

Because I still felt clueless, I called the nurses back, feeling like an idiot, because I was supposed to be waiting until Friday to speak with the genetic counselor. I don't know if the nurse this time gave me wrong info or just worthless info. She told me that 10% of people have positive screening results, and only 2% of those people have babies with the disorder. She didn't know much beyond that. Her info was pretty much useless though because the majority of positive screening results are for Downs Syndrome, and you can't assume that because that statistic works overall, that it would work for each disease tested for.

So we researched and waited and cried until Friday afternoon came around. At this point we were continually researching Trisomy 13, as it was the worst case scenario. Every story we could find seemed to be about screening results for Downs Syndrome though. I know the people writing those posts were scared and that everybody wants their babies to be healthy, but I remember getting mad at them. I saw these posts and I thought that they didn't know how lucky they had it. If their babies did have Downs, at least they could be healthy and happy. If my baby had Trisomy 13, she might not even live an hour, if at all. Plus how much pain would she be in?

Finally Friday afternoon came, and we met with a very nice genetic counselor, who patiently answered all of our questions. Some things we already knew, but it was good to hear it explained more clearly anyway.

We learned right away that the test had NOT screened for Trisomy 13, and rather we had shown and increase risk for Trisomy 18. We were so relieved! Trisomy 18 can't be nearly so bad as Trisomy 13... But the genetic counselor gave us this funny look, and burst our bubble. Trisomy 18 is pretty much just as bad. If my baby did have Trisomy 18, many doctors wouldn't consider the pregnancy to be viable anymore. So right back to immensely worried we flew.

We learned that the blood test had been the quad screen, which tests for 4 different hormones in the blood. All 4 of my hormones had been lower than they should have been for my age, weight, and various other factors. This meant good things for the risk of Downs and neural tube defects...but my chances of having a baby with SLOS were greater than 1 in 50...and the chances of Trisomy 18 were greater than 1 in 15...and the lab we went through doesn't give out ratios higher than that; so it's basically the worst possible news at this point. We asked if those ratios were accurate in her experience, and she said yes.

We learned that less than 2% of women screen positive for Trisomy 18. The same is true for SLOS. And way less than 2% screen positive for both. That was why we had such a hard time finding info about our situation, and why stuff about Downs was everywhere to be found.

We learned that even though SLOS is a genetic disease which requires both parents to be carriers, that no test exists to check if Jason and I are carriers. We also learned that SLOS has a wider range of disability, meaning some people with SLOS are closer to the normal side of the scale while some aren't.

We learned that if our baby did have either of these diseases, that our likelihood of having another baby with the same diseases was increased (with SLOS, it goes to 1 in 4).

We learned that there are different kinds of Trisomy 18, and that this is a mutation that happens when the cells are multiplying. Depending on when the mutation occurs, some people have an extra chromosome 18 in all of their cells. Some people have this mutation in only some of their cells, meaning the mutation happened further along during development and only shows in cells descended from the mutated cell.

We learned that the ultrasound would give us a better idea of what was up, but that to truly know if our baby had either of these problems, we'd have to do an amnio. If we did the amnio, we'd get 3 rounds of results. The first round (the FISH results), would test for Trisomy 18 in a small sample of cells. So this test wouldn't necessarily show all variations of Trisomy 18 because the sample could be of healthy cells from an individual with both healthy and trimsomy cells. If all went well with the amnio, we'd get these results in about 3 days. The second round of results would be diagnostic for SLOS, and we'd get these results in about 7 days. The third round of results would test more cells for Trisomy 18, and should show as positive even if not all the cells have the mutation. These 3 tests are supposed to be 99.9% accurate.

We also learned that we could decide whether or not to do the amnio based on the ultrasound. If we opted not to do the amnio, we could do a follow-up ultrasound when she was a little bigger. If at 18 weeks the ultrasound looked perfect, the chance for Trisomy 18 drops to 1 in 150.

I'm sure there's more, but I think that's the gist of it...so at this point we went in for the level II ultrasound.

It was really cool to see her hands and feet and head, but we were so worried. The ultrasound tech was nice though and told us what she was looking at and whether or not it looked normal to her. Thankfully, we saw 4 chambers to her heart, which was a good sign. We also saw her clench and unclench her hands, and we saw 2 hemispheres to her brain. All good signs. What Jason and I didn't realize then is that she was measuring small. And small is not a good sign. It's actually a symptom of both Trisomy 18 and SLOS.

So after the ultrasound was over, we went back to the genetic counselor and learned that the ultrasound was inconclusive because of how small she was. Apparently, because she was small, they couldn't see all the markers they were looking for, or at least as clearly as they'd like. Also her size was a red flag (she was 10 days behind at this point.) With Downs and some of the other disorders, they recommend retesting with an adjusted gestational age to see the ratios again. Not so with Tri-18 and SLOS.

Also, because all 4 of my hormone levels had been low, and because only 2 of them are supposed to increase in levels as pregnancy goes on, retesting with an adjusted age would only fix a couple of the levels, not all...meaning that there might be something else wrong.

It turns out though that if we were at least 7 days off in her gestational age, meaning that she is 7 days younger than we think, then the test was completely invalid. I know when my last period started, but I also have irregular cycles. So it was possible that we were just wrong about her age.

All this left us with a choice to make. Either we are happy not knowing, come back later for another ultrasound and hope that all is well at that time, or do the amnio. Waiting just the 3 days for this appointment had been hell. So I knew I couldn't just not find out. Waiting for another ultrasound didn't guarantee any answers at all, and even then we might end up doing an amnio. Which then we'd end up waiting even longer. So we decided to go through with the amnio, which is scary in itself. It helped that the rate of amnio related miscarriages was really pretty low at this facility, somewhere in the 1 in 500 range. And we took some comfort in knowing that if nothing happened in the 2 weeks after the amnio, that we were out of the woods with most of the worry from amnio related problems (most of the concern is about the hole sealing up).

A lot of people ask me if the amnio was painful. Honestly, I wasn't worried about myself at this point; so I hadn't considered the pain. So when they told me that it's less painful than most people expect and that you just feel some pressure for a minute, I took that to mean it wouldn't be bad at all. And then it was worse than I expected. But still not bad really. Quite uncomfortable for a short period of time, like a minute or so. In my opinion, the pain is definitely not a reason to back out of an amnio. I couldn't even find the place they'd poked when I got home from it, and it stopped hurting almost immediately when they were finished with it.

The waiting at this point was sheer hell. I'm not even going to go into all the thoughts that were in my head during this time.

Because our amnio had been done late Friday afternooon, we'd missed the lab pickup for the day, and the lab didn't get the sample till Monday. Then they had a hard time finding enough cells to test in my sample; so I didn't get the FISH results until Wednesday the next week. Much more agonizing research happened in between these days, and I found a couple sites that are really good for families of Tri-18 babies, but not so good for those of us in my position. Reading about all the babies that were born dead or died so quickly was soooo hard, and yet I kept doing it. It was hard to press through the day, and when I got home from work I'd struggle to stop crying. More than once we called friends and said we had to go out just for the distraction...that I couldn't stop crying unless other people were around.

I called the genetic counselor about a billion times asking if she'd gotten results. She was really sweet, but I felt bad for calling so often. I knew she'd call when she knew, but I still couldn't stop myself. Especially when Tuesday rolled around and still no results at the end of the day. I knew best case scenario we would have gotten them on Monday (the lab can get samples on Saturday...so 3 days from that is Monday). End of day Tuesday was supposed to be worst case...so waiting till end of day Wednesday was hard.

I have a friend at the lab which ran my tests. She could have gotten in a lot of trouble for giving me my results. But guess who still harassed her? She told me info like, "they're starting to test your sample today". But she couldn't tell me much more than that. And I understood that. And I knew that if something were wrong I wouldn't want to hear it from her because that would suck a lot. But I still called. I was still desperate for anything she could tell me.

But the first round of results finally came back, and they showed no mutations. And they showed that our baby is for sure a girl.

We were still worried after this, but the first round of results really gave us such a feeling of relief that it helped us get through the next so long. And we got the next round of results Friday, and they were normal too. So we knew for sure that the baby didn't have SLOS, and we really just had to be worried about the Tri-18 that doesn't show up in all the cells. This made waiting even easier, but still pretty tough. (The kind of Tri-18 that doesn't show up in all the cells can be less devastating than the kind that is in all the cells in some cases...so that was helpful knowledge at this point as well.) Then we got the next round of results earlier the next week than we expected, and they were normal as well!

So the scary quad screen terrified us unnecessarily. Everything it showed as a possibility the amnio ruled out.

The one thing I regret is that we told my in-laws right after we'd had the amnio. We like to keep them informed, and I think we just wanted to talk to people about it as well. When Jason called his mom she was at home by herself. She asked a bunch of questions, and seemed ok. He called her back a few minutes later though to tell her that the US made it look like we were having a girl...and she was apparently quite shaken, and had been sitting at home by herself crying. We didn't want the world to know about all this at this point; so we'd asked her to keep it to herself...which I think made it even worse. At that point we realized that we were done telling family until we had more info. No reason for everybody to be sick with worry.

We've still been worried about the baby's size, but we're more and more convinced that she's just younger than originally thought. Besides that, she looks anatomically good.

So yeah, really the reason I wrote this post, and why I put in so many details that most the world really won't care about is in case there's another terrified expecting parent out there who's going through this. If you are that person, and you need to talk, leave a comment with your email address (leave it on whatever post is newest). Hopefully I'll see it in time to be helpful...

Oh, and some of the details here might be wrong. My memory is a little fuzzy, and Jason remembers some of the details a little differently. Most of the stuff came straight from the notes I took at the time though...so hopefully it's right :) Regardless, this is just the story of what happened to me and what I learned and shouldn't be taken as medical fact.

(One more thing, the quad screen isn't diagnostic...so saying false positive is misleading... I know this, but I Googled for phrases like that when I was desperate and didn't understand this...so maybe it will help somebody find this post who needs to hear a story about a baby whose tests ended up being ok in the end.)

84 comments:

Laurian Vega said...

Goodness Amber. That sounds so absolutely terrifying. I am so glad that everything seems to be going well with Baby G now and that everything turned out all right. Even if it hadn't though, your family and friends (like *us*) would have been there to help love and support you both.

Emily said...

Thank you! I just got a positive screening for Trisomy 18 today and we have to decide what to do. This was the most helpful thing I've found online all day... and I've been looking.

God bless you!

celeste said...

Your post is an answer to prayers. I am going through the same thing after testing positive with a 1 in 38 chance of trisomy 18. I just can't tell you how much I appreciate your post. If you should get a chance, I'd love to pick your brain some more. My email is: cel_e2001@yahoo.com. Thanks so much!
Celeste

penelope1316 said...

Hi Amber,

Thanks so much for posting this I feel so much better. I screened positive for Trisomy 18. I have never been more scared in all my life. I am 25 and have always been healthy and already have a healthy girl. I cried and cried and cried when they told me, even though she explained that it was not diagnostic. I have a 1 in 16 chance the baby has it. Those were the stats I was given. I was 18 weeks when I had my level 2 ultrasound done and had done the ultrasound before I had gotten the results for the screening. The ultrasound looked good though. The baby its a boy was weighing 7 ounces, his heart looked good. I saw and have a picture of his hand with his five little fingers up. Like a high five, but I still cried like crazy because I did not understand. I had my amnio done on thursday, and have been on bed rest. I still haven't gotten the results but I am a lot calmer now. Before the amnio I freaked out and started sobbing, and they calmed me down, and told me that there was a good and high chance the baby was okay because the ultrasound showed the baby was normal. They did not see any markers or anything. It's so scary to go through this, and I still have to wait a few weeks to get my results.

erica said...

Thanks so much for your blog. I am in so in your shoes, like you every story I came across were sad stories of parents who have lost their children to trisomy 18. We just found out yesterday that our quad screen showed our baby could have trisomy 18 (1:80). I am 25 yrs old and wehave a healthy 3 yr old daughter. I almost did not get my quad screen done b/c i know quite a bit about the error rate and all with the quad screen. For whatever reason I had it done and here we are know. I have cried so much, my husband and I have been praying about it and with god's amazing grace our baby will be fine. we have a genetic appt tomorrow for a level 2 ultrasound and counseling. I hope our babyis fine, please give me any advice that helped you and your husband get through all of this. gevakarflo@yahoo.com
erica

Lorraine said...

Another thank you for posting all of this information. I just got a call form my OB (not the nurse, so I should have known something was wrong) to let me know that I am screen-positive for SLOS and trisomy 18. I have been googling for and hour and slogging through pub-med articles, but your entry was the best thing I found.

I'm glad it all worked out for you, and now I am hoping my story will have a happy ending, too.

klynn516 said...

I am going through the same exact thing. I tested positive for both diseases and couldn't find any information online other than Trisomy 18 is a horrible fatal chromosomal defect. I found out 4 days ago and still have to wait 4 more days to see the genetic counseling. It seems like this week will never end! Your post is the only thing that significantly relates to me and what I'm going through. Thank you so much.

kris in larryville said...

We too are waiting to see our genetic doctor in a few days and the information available is scarce. I have positive hopes as I believe we may be off a few days on gestational age and that may be our problem. It is so nice to hear that I am normal to worry so much about the information I do not have yet. Thank you very much for this post as it has calmed me a bit.

Nicholas said...

We just got told today that she had a positive screen for Trisomy 18. This gave us a little breathing room. They didnt give us a 1:? ratio for ours though so that is freaking me out. Pray Pray Pray!!!

Shoshanna said...

Thank you also Amber. Your post is doing as you wished and supporting many people around the world. Good for you! I am 43 years old, mother of a 16 month girl and I am 16 weeks pregnant. I have gone throught the NT scan, the Maternal Serum Test and on Tuesday I go for the Amnio. I really am praying on a miracle as our odds are 1 less than 2 chance that the baby has Trisomy18. Hard to believe and my mind is fighting it all the way. Our baby boy is a perfect size and very active. NT 4.3. I am happy for your positive outcome and wish you and your family all the best for the future! lhdrive@hotmail.com

Cara said...

Thank you for the post. I have been looking online all day, since our dr. office called this a.m and said we tested positive for trisomy 18 on the quad screen. I have been scared and terrifed since then and the dr.'s office still hasn't called to tell us when we can do the level 2 ultrasound. I feel so out of control. I have 2 beautiful children already! I am so scared and your post really helped...thank you.

asmalley said...

I am so in your shoes. I too just found out that I am testing positive for trisomy 18 and 13
(1/76) following my first trimester screening. We experienced two consecutive miscarriages prior to this pregnancy, and thought we could celebrate once we made it past 12 weeks. We have already been blessed with a wonderful healthy 3 year old son who is so excited to be a big brother. I am so afraid that I am going to have to tell him that his baby brother of sister is sick. We only told him about the baby after the first trimester nt ultrasound looked so perfect. Unfortunately, my blood work that followed wasn't so text book. Now I have to wait more than 2 weeks for my level III ultrasound and possible amnio. This has already been the most difficult and trying time since we found out 5 days ago. I can't imagine how long the next 2 + weeks are going to be until my appointment, not to mention the wait for the results of the amnio should we decide to go that route. Thanks you so much for your post, it really helped to calm my nerves. Angie
asmalley96@hotmail.com

Amy said...

Thank you so much. My story is very similar - 1:32 for trisomy 18, a lot of waiting and crying. The thing that scares me is that, they say that my baby is growing fine, but I think, inside, that she's a week older than they think. So I am scared that she is too small! No amnio, but another follow-up u/s in 6 weeks, which means 6 more weeks of torture. Do you know where I can read about the chemicals that they measure and how they are impacted by things like age, medicine, weight, gestational age, etc.? Oh, aharri4@hotmail.com.

kawfytawk said...

Amber...thanks for your post about your dealings with a quad screening. My daughter, who is 17 weeks was told her screening for trisomy 18 was "although in the normal range, was at the lowest of the normal"...so it wasn't abnormal but the doc requested a level II U/S. I have to wonder why they have ranges if a low-normal result is grounds for further testing. I am hoping it is a gestational age thing...but you are right the waiting is excruciating for my daughter and her husband and me. I hope and pray she gets an ending like yours. I also see, by the posters here and on other websites, that so many "positives" are in mothers that are in the mid 20 age range rather than the older moms. This is curious to me. I wonder if this test/screening is causing a lot of unnecessary anguish and risk...just a speculation on my part as I am certainly not a trained professional...in any case...thank you for your post

Nicole said...

I am currently 18 weeks along and my Dr wants me to have the quad screening done within the next week or so. I am so torn as to whether to do it or not, especially after reading stories like yours. We did the NT scan and everything looked fine then. I just don't know what to do. If you had to do it all over, would you still have gotten the quad screening done? I don't know if it's better to know and prepare or be shocked upon birth if something is wrong. Any advice is appreciated. nicolef_24@hotmail.com

Anonymous said...

Your post was exactly what I needed to hear. We got some blood results back indicating that we have a high risk of having a baby with Tri 18. (1/75 chance). I too am young (28) and already have 1 healthy baby girl. AS like you for some reason I was coerced into taking the test, although we didn't want to take any blood tests and here we are now. The positive for us is that all our u/s are looking good and our baby is measuring on track. We have our level II in 2 weeks and will be going from there. It is just amazing the waiting game we are playing. I am only 16 weeks pregnant and don't feel comfortable about getting the amnio until after 20 weeks. If we have to we will but hopefully the level II turns out great and we won't have to worry about it. Thanks for your story it was really encouraging and again exactly what I needed to hear.

claudine trever said...

hi there. i am 16 weeks pregnant and my bloods have come back positive for Trisomy 18. Like all of you, i too havent been able to stop crying and worrying since i received the telephone call. i visited my doc yesterday. He did a normal scan and said that the baby looks fine, plenty of movement and excellent size. (the baby seemed to be dancing on the screen as if he/she was telling me not to worry!!!) anyway, we have a detailed scan scheduled for Monday. the wait is endless. it's thursday morning and i dont know how to get through till Monday. THank you so much for your story. i feel a lot better now. The family and our Pastor has been in prayer ever since we got the news on Tuesday. i know that God will come through for us just as he has for you. God bless. Claudine. my e-mail address is ctearaj@gmail.com

JuLi-ElLe said...

Thank you for your post. I had refused the quad screen in the beginning because I didn't want to know. When they did our gender u/s at 19wks they found a water sac on my sons brain. That's when we went ahead with the quad screen just to rule out Tri-18. Our results came back at 1/32 for Tri-18 plus we had the water sac marker. I was devastated. When we went for our level II u/s the following week they showed that he was perfect, the sac was even gone. He was measuring right on size for everything and everything looked perfect so I refused the amnio because I saw for myself he was ok and I didn't want to put his life at risk just to prove something to myself. If he was going to die, he was going to die whether I knew it or not why not enjoy my pregnancy and not risk his life over it. I'm currently 31 weeks and still don't know if he's ok. I have this feeling in my gut that everything is fine but it's still very hard. I find myself playing out the bad scenarios over and over and over again in my head. Even though I know he's ok...there's still that small chance that lingers in the back of my mind. I don't regret not getting the amnio because I feel I did so for a good reason, but sometimes I just wish I could have that full 100% sure instead of being only 99.25% sure that he's OK. I just can't seem to let myself go with the good odds. This post makes me feel so so so so so much better. It's nice to find someone who has a positive end result! I know in my heart and in my mind that he is going to be healthy and perfect when he's born, I just have to have patience and trust that God knows what he is doing. I asked for patience with this baby (because my 6 year old has sucked all the patience out of me) and I think that's what he's trying to teach me. Patience. *sigh* I will certainly update you when my son is born (around Halloween of 09) I really do appreciate this post. Thank you so much!

Denielle said...

WOW this post really puts positive thoughts in my mind even tho the negative are still there. im 18 weeks and i went for my ultrasound before they got the blood work back & then 2 days after i went to the dr's and they said i tested positive for the trisomy 18 but i had to go for more testing. they also are testing me for a blood clotting disease & testing me to see if i am a carrier..it is now thur and i don't go for my ultrasound until wed. waiting all this time is driving me crazy. i have a healthy 1 year old little boy and now one on the way. all i can do is pray its a false positive. god bless all of you
dennygirl12702@hotmail.com

Tiffany said...

Thanks for sharing your story with us. I had my quad screen come back with 1:79 for slos. Had the ultasound and everything look great but baby measuring 5 days small. Went ahead a did an amnio and just waiting for the results. Been 10 days and I am going nuts but trying to stay positive. Any advise would be much appreciated as there is not alot out there on SLOS.
tiffany.breeden@gmail.com

Anonymous said...

Thank you for this post! It is very encouraging. I went for my 20 week anatomical u/s and the u/s tech was very quiet and I could tell something wasn't right, she was focusing on the baby's heart and she was very concerned that she couldn't get a view of his face so she said that she wanted us to come back for another u/s in 3-4 weeks to do a fetal echo and to get a look at the baby's face. We were to see the doc right after and as we were waiting to see him I looked at the paper that the nurse gave us and it said "choroid pl cysts" on it as another reason for a follow up u/s. I looked at my husband and said, "I wonder what that is."
So, we went in to see the doc and he was very quiet reading the results of the u/s and looking over the pics, then he said, "well, what we have found on the u/s is..." and got quiet again, and then went on to say, "is that your baby has choroid plexus cysts on his brain." Then, he showed me the u/s pics of his brain and where the cysts were. They were all over his little brain, 3 or 4 on both sides of his brain, varying in sizes. I didn't know what to think. Then, he went on to tell us how these could go away and the baby could never be affected by these cysts, they just appear in some pregnancies. And then, he said, "But this can also be a marker for down syndrome." He told us the difference between Trisomy 21 and Trisomy 18 and how Trisomy 18 much worse, it is fatal, all the details. And then said, "These cysts are a marker for the Trisomy 18 down syndrome." I also looked at the u/s and noticed in all of the pics, and in the u/s I had done at 16 weeks, his hands are clenched, and then it hit me that his hands were clenced throughout this whole u/s. He then offered us the quad screen test. So, I got my blood drawn and scheduled my follow up u/s for 4 weeks out.
I was completely devistated, a day that was supposed to be a great, sweet day where we get to see the baby and find out the sex turned into the worst day I have ever had.
I got into the car and just started sobbing. I called my mom and she met us at our house and I just cried for days. I got the results from the quad screen, which were 1/100, the nurse said this looks like a normal result based on my age (I'm 21). So, I should be relieved, and really I feel much, much better, but I still feel uneasy about the results. According to many things that I have read this is considered a positive result. I just have a gut feeling that something isn't right. I never had a bad feeling during my pregnancy w/ my daughter (who is 3 1/2 now) I always just assumed that she was healthy. But with this pregnancy I have had a very bad/weird feeling from the start, and then I get news like this.
I'm 22 weeks now and I just can't wait for my u/s that will be done in 2 more weeks. I was doing fine, thinking positive about the nurses call with normal results to the quad screen, and then I just looked at the u/s again and saw his clenched hands and the terrible worry came back, I just wish I knew, I just pray that at the u/s the cysts on his brain have gone away and that his hands are open and he looks great!
I am so glad to hear everything turned out great for you after all of your worry and it also shows there is hope for my little guy.
Thank you again.
Oh, if anyone has any other input or any other experiences (good or bad) feel free to email me
ashleatk@yahoo.com
I would like to hear all that I can so I know what I'm dealing with.
Thanks to all
Ashlea

Jennifer said...

thank you for this post. I got my results this week while my husband was out of town (positive for T18 and SLOS)and you are correct there is so little online about it in reference to anything but Downs. we had done the test because of a family history of Spinabifida and I wanted to be prepared incase we needed to have a NICU ready, I was not at all prepared for the results i was given. Thank you again for sharing and letting people know there are positive outcomes! we are hopefully going for ultrasound and anmio next week.

Anonymous said...

Thank you so much for your blog. I tested positive for Trisomy 18 in the 2nd trimester quad screen. Our appt with the genetic counselor is tomorrow morning. I feel a little better knowing there can be a normal, healthy baby at the end of this stress!

Anonymous said...

My quad screen was positive for Smith Lemli Opitz, I had an estriol measurement of <0.13, which is basically undetectable. The odds are 1 in 19. I am a healthy 29 year old, so I was shocked! I just got a call from the genetic counselor. His number one guess at our appointment last week was fetal demise, but they did the level II ultrasound and...with 35 points of measurement our little boy was spot on! No deformities, no indications of SLOS. Today, we found out that the test for SLOS came back negative!!! I'm so happy. They will test for Ichthyosis, which is a skin problem, since that is now the most likely. I'll post again when I find out, but it's much better than SLOS. I had the worse odds they've seen, and it turns out the baby is ok. Thank you Amber for sharing your story, and thanks to everyone else who has posted. It helped me so much while I was crying and scared.

Anonymous said...

I posted on June 10 and we received our results last week. It does turn out that our son has X-linked Ichthyosis. This is a totally manageable condition. There are a lot of X-linked cases that are not detected simply because the family thinks their child just has dry skin, so it's pretty mild. I am so relieved! Thanks again Amber.

Crystal Osment said...

Thank you so much for telling your story. It has really been an encouragement to me. I have been given similar news and am waiting to hear from the Doc to set up amnio. May God bless you!

In Christ,
Crystal Osment

Anonymous said...

My wife is in week 20 of our first pregnancy. I am 36, she is 34. We are normal, healthy individuals. About 3 weeks ago, we received a call that we were “positive” for a DS baby after the quad test. After our own research, no thanks to the clinicians, we discovered that we showed an increased risk, NOT necessarily a DS baby. The good news was, we could live with that.
Our results showed a 1:5 chance for DS. Rather than tell us, “you have an 80% chance of a healthy baby”, we were told that we had tested “positive for DS”. How BS is that?! We went in for an Ultrasound. BTW, the DR hasn’t even made contact since the quad test. The RN was the one who called with the results. How tacky is that?! After doing a lot of research, we realized that these test produce too many false positives. We would very likely not have this done in the future.
While waiting 4-5 agonizing days to get the US, we decided that we things could be worse and hoped only for an otherwise healthy baby. The day of the US, the Clinicians were looking for the common markers for DS. Brain, Neural fold, Heart, Intestines, Simian Crease, Humorous length. . .all good. Femur was a few days short in terms of development. I, of course, reminded the MD and my wife that I have relatively short legs and a long torso. . .laughs. Oh yeah, at this point, we find out it’s a boy. We hadn’t really given much thought to preference, just wanted a healthy baby. Also, the baby showed signs of “sandal toes”. This is where the big toe is spread apart from the others. I reminded my wife that I also have this. Had to show her when we got home .
Soft markers, but given out 1:5 risk, cause for concern. I, however, was happy to see no major or life-threatening conditions. I read somewhere that a husband asked if a DS child could still love, fish, and play ball. Hell yes they can. This was just fine with me! What a brilliant question!
We decided on an amnio. . .simply to be prepared and alleviate the stress of not knowing. I have to admit, it worried me to watch the screen as the needle went in. My poor wife jumped a bit, but claimed it didn’t hurt, “just felt weird”. Bless her for being such a trooper! I likely would have screamed just prior to vomiting or passing out! Luckily, the little guy stayed away from the needle (stranger danger). 24 hrs went by with little if any reaction. A little sore is how my wife describes it. Although not necessary, I made her lie down for 24 hrs and wouldn’t let her lift a finger. I know, I am way to hyper-sensitive.
We opted for the FISH test. . .we wanted answers. 3 days later, the genetic counselor called with good news! The FISH test showed now abnormalities. 1st hurdle: no birth defects on the ultrasound. 2nd hurdle, FISH test was good. Today is day 14 for the Amnio results. We had to put our 16 year old dog too sleep (Nanook). He was a true companion and will be missed. One of the worst days of our lives ended with a beautiful ray of hope. The Amnio came back with no apparent abnormalities! I think my wonderful dog knew today was a day to remember. It was the worst and the best day all in one!
For now, we are so relieved to be able to enjoy the rest of the pregnancy. I was so worried about my lovely wife and her well being during the last 3 weeks. No one needs that kind of stress. I am sure our baby will be born with a receding hairline .
I am writing this for all of you who find yourself in the same situation. Keep your head up and look for the positives. We were 1:5. It doesn’t get much worse in terms of odds. Having a false positive is no picnic, but in hindsight, we count each and every blessing as they come. As I type this, by beautiful wife is sleeping with our 2 cats and dog around her. They know she is sad and happy. I hope that someone will read this and find comfort in the fact that things are not always a bad as they seem.
-an over-reactive, scare-to-death, extremely happy, father-to-be!

JuLi-ElLe said...

Hi Amber,

I posted a comment on Sept 1, 2009 about our experience with the quad screen and our 1/32 chances of having a Trisomy 18 baby. I just realized that I forgot to update! Our son was born October 28, 2009, absolutely perfect in every way! I had been so afraid for his life the entire last half of my pregnancy that I could barely eat or sleep. Even the first few days of his life, I was very weary of him. Like I didn't want to connect with him, just in case. He will be turning 10 months old tomorrow and is a little ball of energy. He's even attempting taking his first steps.

Going back and reading my last comment, all of the pain I was feeling at the time came flooding back. I had never been so heartbroken and afraid before. I guess time made me forget all of the overwhelming emotions and had somewhat healed my pain. However, I have been deeply impacted by my experience. I will never look at my baby the same way again. Just knowing that there was a chance that I might not have been able to meet him or hold him, much less get to experience him growing up, makes me grateful for every second I have with him. I don't care if he is spoiled rotten (which he is!), I'm going to take in every second that I almost didn't get to spend with him.

Thank you, again, for sharing your experience with us. This post was there in my time of need and helped me get through a very difficult situation.

Anonymous said...

PLEASE!!! By all means if you find time to contact me I am going crazy! I am terrified!

Kerri
milwrn68@yahoo.com
262-365-9093

Anonymous said...

My husband and I are going through almost the same thing. My results were 1<5 for trisomy 13 or 18. I just had a cvs on Monday so it will be a while til we get the results back. I am freaking out.

My email address is ariellasmom07@yahoo.com.
Thank you for posting your story. I know indefinitely will in order to help future sufferers out.

Karissa

Anonymous said...

My Name is April and I am in NYC. I am 42 y/o. while TTc for 2 years with my husbdand we never though this will be the hardest part ( being pregnant)

I got my fist trimester quad (11 weeks)

trisomy 21 ...1 in 881
trisomy 13 & 18 1 ...109 (*high risk)
TN 1:18

**********

3 weeks ago i got my 2nd u/s and the same day the 2nd squad test done for 18 weeks of pregnancy


results:
trisomy 21.... low risk
*** TRISONY 18 1 in 50 chances(** hi risk..again)

1 in 50? the doctor assistant called me like i need an u/s or an amnio ( which i have reject since the first trimester) i told her that i had an u/s the same day i got the quad @ the clinic they sent me and they forgot to get the results of the U/S(?)..

The U/S came perfect , hands moving , nice feets, moving normaly, eyes, head, nose..etc and then 1 week later i get this stupid call from my prenatal doctor office.

I am very healthy ( only seasonal colds..) so it's my husband which is 6 years younger than me. we neveer though this can happen to us.

I have been trying to google, check the forums and until now i got this blogg with info (tx god) but before this blogg i couldnt find anything but Down syndrome (t21).

I cry and cry all the time but i dont want the amnio, i dont want to have a chance to miscarriage a healthy baby.

I will try a new ultrasound at 21 or 22 weeks and so god help me!..I pray everyday for my child and for all of them to have a healhty life.
I dont have much money to care for an unhealthy baby and i always wonder what happen to these kids when parents are not around to care for them anymore....that is the sad part of this problem.

have anyone had an 1 of 50 chance for T18 and everything was righ at the end?
feel free to advice.

Anonymous said...

WELL LET ME START BY SAYING UR POST HAS BEEN SOME OF THE BEST NEWS I HAVE HEARD ALL WEEK.. I AM GREATFUL FOR UR STORY. I AM 25 AND ALREADY HAVE TWO BEAUTIFUL CHILDREN ANY WOMEN COULD ASK FOR! SO I AM NOW 22 WEEKS PREGNNANT WITH OUR THIRD CHILD AND HAVE ALSO GOTTEN THE NEWS THAT I HAVE 1-69 CHANCE OF OUR SON HAVING TRISOMY 18I AM SO TERRIFIED, I AM SCHEDULED FOR MY LEVEL TWO ON MONDAY AND POSSIBLE AMNIO... I AM COMPLETELY FREAKED OUT. MY OB GAVE ME THE NEWS AND WAS REAL BLUNT THAT I NEEDE TO DECIDE IF I WANTED TO TERMINATE OR NOT... ALL OF THIS CHANGED MY LIFE IN A MATTER OF A FIVE MINUTE CONVERSATION, I JUST DONT KNW WAHT TO DO.... ANY ADVICE WOULD HELP.DILLARDAN@YAHOO.COM. THANKS AGAIN FOR UR VERY POSITIVE STORY.

Anonymous said...

thank you for going into details about what happened with you on this blog, im going through the same thing almost...i just got my amnio yesterday and now we are waiting anxiously for the results, hoping for the best.

here's some info about me:
Im 29 years old,17 weeks pregnant with my second child (girl), my Quads showed an 1:11 chance for DS

my email is yokozuki117@hotmail.com

May God bless your family :)

Anonymous said...

It was so comforting to read your blog about the Quad Screen. I just found out this morning that I tested positive for Trisomy 18. They said 1/55. I am waiting on the genetic counselor to call me. Praying they call today. I can't imagine having to wait a few days to just schedule the appointment. One of my best friends has a child with DS. I would totally be ok with that. Having a baby with Trisomy would be so devastating. I can't imagine losing this baby. My email is janna.figueredo@yahoo.com. Thank you again!!!

Karen said...

Dear Amber and Jason,

Thank you for this wonderful blog. I just had the screening done, and cried for the last 24 hours. My husband and I have opted out for any of the Genetic testing, and we will wait until the 20th week to test for the growth of the organs. I have gone over this several times with family, friends, and my primary care doctor. We are just going to pray, and hope for the best. I am so sorry that you went through all of this. Thank goodness for the internet, and our ability to find you and your blog.

Karen

Kristen and Dave said...

I know this is an old post - but I just had to comment. Amber, just like you, last week I caved at my 16 wk appt and got the blood test done. Even though my husband and I have said all along we're having this baby no matter what so it doesn't really matter what a test says. Then today my OB called and told me I am testing positive for T18. I was shocked. Its been a really great pregnancy so far. So of course, I am freaking out, and next thing you know I start googling T18. NOT a good thing to do. But I am so glad I came across your story. I head to my ultrasound tomorrow where they'll look for the defects. I am hoping everything looks ok. I am banking on the fact that there is probably nothing wrong with the baby. Every blood test, U/S, heart beat, EVERYTHING has been normal up until that stupid blood test. I think the doctors exact words were "perfect" for every milestone thus far. So thank you for posting your story... it keeps everything in perspective!
Kristen
krsugar1@aol.com

monika said...

Thank you so much for this blog post. I received the call this morning with my penta screen results, and they came back positive for trisomy 18 ... 1:10 chance. I cried most of the day, researching what it was and not finding many stories I could relate to until I found your post. I am hoping we will have a similar outcome as you did, and like you I already wonder if they dated the gestational age off enough to sway the results to positive. We don't have a full time perinatal specialist in the area, so I couldn't get in to see one until he will be in the area on Wednesday (6 days of waiting... so hard!!!). The second hardest part is deciding on whether or not to get the amnio, the increased risk of miscarriage scares me, but not knowing 100% about the trisomy 18 scares me as well so it is going to be a hard decision to make. Thanks again for writing this, my husband and I read it together last night and it made us both feel a little better as well as helped us understand the upcoming process ahead of us.

Biscuits said...

Hi Amber,

Thank you for yoru post. i just found out yesterday that in my second trimester screening that i tested positive for Trisomy 18 and SLOS. i have a 1:4 odds. i go in for my amnio tomorrow. i am scared to death. I had two miscarriages prior to this pregnancy this year alone. i am a wreck. my dr. didn't seem as worried about the SLOS as the Trisomy 18 finding. I am praying that it was wrong. My first screening i had done 4 weeks prior to this came out negative for Trisomy with a 1:430 chance. so what could have changed so drastically in 4 weeks? i am confused, scared, sobbing, you name it. i just am so confused. If you have any insight if you could please email me at tarabojangle@gmail.com. Thank you so much.

Irina Goldberg said...
This comment has been removed by the author.
Irina said...

Hi Amber,

Your story gives me hope and I hope that my results follow yours. My first trimester screen came back 1:78 for Trisomy 18. On Tuesday the quad test came back with greater than 1:3 (the highest possible). We met with the genetics counselor today and he told us that things look bad but there is hope. We did the ultrasound for markers and other than a possible minor heart defect, it didn't pick up any. I am only about 17 weeks so I have to come back in a few weeks to redo the ultrasound. I also did the amnio and should get the fish test results on Monday or Tuesday.

One good thing came from today: we found out that it's a girl! I am trying to stay positive and focus on the lack of markers. Thank you for your story. I need all the hope I can get.

Anonymous said...

Thank you for the support, my daughter just recieved a high screening for Tri-18. She is 19 weeks and we are all scared to death.

Anonymous said...

Hello, mine was 1:233 for downs, triscom 18 is 1:16 and triscomy 13 1:19. all high risk. going for amino scan in a few weeks. has anyone had high risk for all. I think this is bad news for us

Terri said...

Thank u I got the phone call today that my test came out abnormal so im going in after work to do the amn. Im so scared and havent stopped cryin this really helped me not only is it hard o find anything about this what u do find is all negitive thank u again

Anonymous said...

Hi Amber,
You wrote this Blog almost 3 years ago and it is still the most help I have found. I feel like I read this story about myself. Age, ratio, u/s and everything else you said. My husband and I decided not to do the amnio. I am a bit of a control freak and not getting the guarantee upsets me, but after reading your blog, I feel more confident in our choice. We are now at 23 weeks and there is no looking back. The baby is larger than average in both weight and length. It kicks and hiccups all the time. 10 movements an hour...HA I have 10 movements in 10 minutes. I feel good!

I wanted to say thank you even after all this time for being the only positive information for Trisomy 18 screening.

Anonymous said...

Hi. I have my amnio scheduled for fri morning. It's we'd night. I have been up and down in emotion and my husband (also named Jason) just doesn't understand. I've been crying at a drop of a hat. He just feels terrible seeing me this way I know. Ugh... All of this is so scary. Thank you for being so open and honest. It really helped to read the step by step moments.

Sadie
Sadshaw@hotmail.com

Anonymous said...

Thank God for blogs like these. I love to hear the stories of positive outcomes and also feel better knowing that I'm not alone in my despair over this situation. I am 33 yrs old have 4 healthy girls and am 16 weeks pregnant and my quad test came back 1:10 for Trisomy 18 and SLOS. The nurse at my doctors office basically told me that this was most likely a true positive result. In other words, my baby probably has these defects. I have been praying and scrolling threw scripture about healing all day today. My level II u/s and possible amnio are tomorrow. If you are reading this please pray for my baby. I did have a ultrasound a couple weeks ago and found out it is a boy. I have 4 girls so I was very happy...until this test came back. I will update tomorrow after the u/s.

God Bless everyone for sharing :)

Emilie said...

I am 19 weeks and found out at 16 weeks that I am 1;11 odds for Downs, and 1 in 59 odds for Trisomy 18... very scared and upset... I am 27 years old, with a 3 year old girl, and am very anxious to go to my genetic counselour tomorrow. Please keep me in your prayers... I can accept the downs... but the trisomy 18 is just too devestating... My husband is 24 and very upset as well... I just don't understand why these odds at our ages... and the fact that my 3 year daughter is healthy as a horse, almost the size of her 7 year old cousin in height, clothing and weight. I just know that it is in the Lords' hands right now and I pray he gives me strength to carry through the next upcoming months... THank you for posting an uplifting blog about a positive outcome with such odds against you... Hope maybe that my family can maybe have a decent story as well. lots of blessings to you and your family!

Anonymous said...

hi im 19 weeks and just got my blood work back... showed up with trisomy 18! this is the first page i have found that is for me and what im going through!!! i go monday for ultra sound and a amnio... i just turned 24 two weeks ago and have two beautiful little girls age 7 and 1! any advice would be greatly appreciated!!!!

Thanks
Samantha Morgan
sweet_tulip88@yahoo.com

mya245 said...

Hi I'm only 20 years old an my first blood test showed up 1 an 115 for trisomy 18 & 13 I got my second test back today with a 1 an 36 chance all my ultrasounds have been completely normal with my son because of the blood test my doctor wants me to get the amino test I'm completely scared of the test but also tired of crying I just can't help but wonder shouldn't something had popped up in the ultrasound abnormal if he did have some type of abnormality?

If you have advice please contact me mzz.mya@gmail.com

Natacha said...

Hi everyone,
I’m 29 years old, and almost 17 weeks pregnant. I feel like all the odds are stacked against me and my baby girl and was wondering how your situation is turning out now?

Here’s my story:
I had a miscarriage on New Year’s Eve and so my doc considers me high risk. At 6 weeks pregnant (end of March), I had some bleeding so they sent me for an ultrasound and found only a gestational sac. A week later, I went back and there was a heartbeat, but my HcG levels were low and the placenta was lying low in my uterus. I had to “take it easy” and the NP said that she was “cautiously” optimistic, that it was too soon to tell if things would progress normally. 2 weeks later (9 weeks pregnant), we went back and the fetus had moved up and everything seemed ok, and we weren’t even talking about HcG levels anymore because “they didn’t matter at this point.” 3 weeks later, the day before the NT test, the one you HAVE to do between 12-13 weeks, I came home and bled like I was having a period. I went to the ER where I got an ultrasound and they showed a perfectly healthy baby! And they confirmed that my cervix was closed- but not before mentioning “D&C” if it was open. They said I had a subchorionic hemorrhage and that I would need to be on bed rest, and hopefully, it would go away. If not, it could endanger the baby. I went for the NT ultrasound the next day. And again, the tech said my pictures were PERFECT! There were none of the usually markers- missing nasal bone, thick spinal fluid, clubbed hands. But my blood work from 3 weeks before said I was 1 in 33 for T18, which is “incompatible with life.” She said my low hormone levels and my age (29) contributed to the numbers being off. So I had to go back in 4 weeks for another ultrasound. But they wanted me to see the genetic counselor anyway, to “discuss my options,” if you know what I mean. Well, termination was NOT an option. So I chose NOT to see the counselor. 4 weeks later, at 16 ½ weeks (2 days ago), I was on that table for an hour and a half. First, we confirmed that my bleed was gone! Whew! No more danger, right? The tech kept asking me to turn on my side and she kept jiggling the probe on my belly. She said she was 99% sure my baby was a girl! GREAT! My baby GIRL! How awesome! We saw her hands and her feet and her beautiful little nose! And she said growth was PERFECT! Her stomach and other organs were growing INSIDE of her, as opposed to outside, or in the umbilical cord, which is common in T18 or T13. So why were we there for so freakin’ long?! Because she thinks she might see a problem with the ventricular septum, like, maybe it’s not closed all the way (VSD). The perinatologist came in and said this: The could not confirm or deny a defect, but that it was possible, given my T18 screening results, and that they could not get a good angles on her heart because she was too small. She ALSO said that I should see a pediatric cardiologist, but that they might give me pushback because my baby girl was too small to really tell if there was a problem. She said that heart defects are very common in T18 babies, so I should speak with the genetic counselor, take this new blood screening test that came out in May 2012, then consider an amnio. WHAT?!

My husband and I have not slept in 2 days. Reading Amber and Jason’s story is comforting. And I too, believe that they got my baby’s gestational age wrong by 1 week, which I mentioned before, but not sure anyone heard me. I would like to hear from anyone else who had their child survive. I just want her to live! I want to see her little face and touch her hands. Even if she is sick, I will take care of her. I’m her mother- that’s my job. But I just want her to live.

If anyone else has had anything in common with my story, please say something. I would love to know your outcome, no matter what it is. And in the meantime, I’ll be praying for you too.

PS- THANK YOU AMBER!! You saved my life today!

Natacha said...

Oh- and if you have similar story, you can email me directly at natacha777@comcast.net

Hope to hear from you!

Anonymous said...

My wife had a positive quad screening result for tri18. She is doing amnio this afternoon. It is kind of hard to talk to her about it without worring her, so I leave it alone. But I know both of use are praying for the best but prepared for the worst. I have been googling as much info as I can, and this was definetly the most helpfull. My wife is 20 so im hoping the age plays a role in the screening. Im very glad your story had a happy ending.

Anonymous said...

I had a positive Tri-18, I have my amnio next Wed...I'm terrified!!!
This is my second child, my first is perfect! He's almost 2 and 1/2 and is SO excited about being a big brother.
BetsyGraham08@yahoo.com

angie j said...

My screening also came back positive. Im 25 weeks pregnant and my doctors have known for over a month now, but barely sharing the news with me now because they said they over looked the results. Im already a high risk pregnancy due to an anti body called little c. First my doctor told me that I had a 1 in 65 chance that the baby has it which I had no idea what T18 was until I looked it up at home. So of course I called them back wanting more information wanting my level 2 ultrasound done asap since I was so far along. Then they schedule me for a genetic apt in 3 weeks, by then ill be 7 months pregnant and doesnt give me a lot of time to prepare if he does have it. By this time the doc tells me that my chances were wrong that its a 1/100 chance that he has it. I have been getting the run around, I finally got on their case and mentioned how this is their fault for not letting me know sooner, I am so far along that I cant get an amino now because i have a higher risk of miscarriage. My only hope is the Level 2 US. Im freaking out, everything I read or watch about T18 is horrible; Im even more upset that Im just finding out about this information from my doctors. I dont know what to do, any advice or encouraging words would be greatly appreciated.

appleofhzi said...

I just got a call from my OBGYN after doing the 16-18 week screening and was told the test 'alpha-fetoprotein' came back abnormal. The nurse was less than helpful, had to put me on hold, said the wrong things, had to correct herself so after a confusing and irritating phone call I found out that we are at risk and it wasn't a definite sign something could be wrong with our baby.

I have some other non-related healthy problems that 'could' be an issue so we are considered high-risk and have regular appointments with the MFM. Our first child, our son, is/was perfectly healthy after birth and we had no complications despite many scares. I truly wish I had not done this blood test; so far, this pregnancy despite 24/7 non-stop morning sickness at 19 weeks has gone much smoother.

It's comforting to know that if the gestation dates are off even by 7 days the tests are inconclusive. We've had our dates changed 2-3 times now and my husband and I are certain the dates are wrong now and have been. I'm trying to go to my happy place and not let this bug me. The worst part is I don't have a clue what exactly is going on and will have to wait 5 days.

Our next appointment was supposed to be on the 22nd to find out the sex of the baby but the Dr. moved the appointment up to this Tuesday, the 14th. We're going on vacation in 3 days and will just be a little over an hour away from home so my husband (who thinks the Dr.'s and tests are just ways to stress us out based on past experiences) is stressed that we will now have to interrupt vacation, drive back and do this without telling my in-laws who will overreact if they find out any of this. It's not bad enough that we're worrying about this... but now we have to start our vacation and put on a happy face.... We're hoping and praying this is all just another 'scare' and nothing serious.

Hopefully, the vacation will help distract until we know something more concrete. Thank you for sharing your story and giving us something to relate too... it is comforting; especially, since it will be 'mums the word' until we know something.

Anonymous said...

I had an ultra sound about a week ago and my doctor was concerned about only able to see 2 vessels. I took blood work that day and they scheduled me to get a level II ultra sound to make sure of the vessel count. The night before my ultra sound, I missed a call from the doctor's office. I just figured that they wanted to remind me of my appointment. Everything turned out fine with the ultra sound. The doctor asked me, if I done any blood work as of yet. I told him that I did, but had not gotten the results back. While I was waiting in his office, he requeted by test results. The words, "Oh, No" came out of his mouth. He told me that I tested positive for Trisomy, but did not tell me a number afterwards. He explain which one it was to me. The doctor inform me that these results mean that my baby could be stillborn or not survive after birth. He said according to the ultra sound the baby is on target. My appointment with the OB is on the 15th of August and all I can do is cry/pray. Since, the first test for the vessels were not correct; I am praying that this is incorrect as well.

I am happy that you post this because I have been going crazy on the web looking for answers. Although, I was not trying to have at 39; I do not want this child life to be harmed in any shape or form.

Anonymous said...

Hi, thanks you so much for your post it's comforting to see there is hope even after positive results for t21,18. I am 30 yrs old and have had 3 miscarriages, so when we finally saw a heartbeat for the first time we were so happy (cautiously optimistic).When we got to the twelve week ultrasound the nuchal transparency was 5.6mm but could clearly see a nasal bone so our dr. Sent us for a second opinion and the hospital dr. Gave my baby 2-3 weeks of life just by looking at the ultrasound.we later got the results of the blood test positive for t21 and t18, I thought this meant for sure i would not have a healthy child, everyone is giving me this info like its certain my child won't make it.. I am so confused, I had lost hope and couldn't understand why they would want me to do further testing like a cvs if I am carrying a child they have already diagnosed with these illnesses so I am very thankful for this post, because I am hoping I was not well informed and this was a screening not a diagnostic. I would like to hope I have a chance to a healthy pregnancy but I feel in my heart I might not be so lucky.the nt was very high and my baby had crossed legs for a a few moments during ultrasound and I have researched on google that might be a sign of t18, but I'm no dr... This is driving me nuts! At least I feel like I have vented, it's hard not beeing able to talk to people no one knows I'm pregnant.I am devastated and confused.

Anonymous said...

Thank you for all your posts it has been very helpful in these hard times. I hope you have all had good outcomes I was just hoping to get some updates on your stories to be able to help me keep hope. Thank you, I hope to hear from you ladies!

Anonymous said...

I recently went though the same thing without the SLOS. I was terrified and just got the results from the amnio on Sat saying that it was normal. They initially told me that my risk was 98%. I wish I found this before I went through all these emotions. And yes...they lie when they say the amnio doesn't hurt. It hurts like a you knhow what...I'm relieved with the FISH results and am positive the full amnio results will be normal as well. I'm happy for your news and sooo happy you shared. There is not alot of information on this at all

Anonymous said...

These posts have been very helpful- thank you! I was told Thursday I am positive for trisomy 18. The first US where they measure the fluid in between the neck came back fine but the bloodwork in the 2nd round- not so much. They didn't even give me a ratio- immediately referred me to a specialist for the level ll US which is Monday. I'm scared but hoping for the best and preparing for the worst. I am 34 so obviously older and at more risk. I have a son turning 2 in December and he is perfect...besides the temper tantrums. Anyway- I appreciate those that gave an update on their status so I will do the same. What didn't help is the doctor wasn't reassuring and the specialists asst that called to schedule the US was simply like it will take an hour and we will go over options.. Again.. Not very reassuring for a diagnostic test.

Catherine Falcon said...

Thank you for your post...I was given results for the quad screen this past Wednesday. Today is Tuesday. Almost a whole week ago. My husband and I have cried so much. I feel as if I lost my child already. Its 3:52 am and I am still awake cannot sleep. Im so glad I ran into this post. My ratio is 1:80 for trisomy 18. We did the u/s and they told me they couldnt rule anything out cause images were not good. We did see babys hand was closed then open. One good sign. I have faith now. Oh how I pray my story is similar to yours. I refused the amnio until next u/s which is in 3 weeks. My husaband keeps telling me he doent know how to live with this for 3 weeks. Maybe I should go ahead and get the amnio done for reassurance. Im 19 weeks pregnant and can not feel baby yet so in all it terrified me. Thank you ...I know have some hope.

shay said...

Thanks to all of u for ur post especially amber. I recived the news today that my screen test was possitave for tri 18 with a 1:70 chance of the baby having it. I go thursday for my first level 2 ultra sound and I am scared to death. But with all the post I read I have hope and a lil peace of mindso thanks again to all of u for takin time to share ur storys. Please pray for me and my lil baby boy!!

Anonymous said...

First of all thank you for sharing your experience. All of us need support while we experience this kind of situation. I also just found out that the results weren't good. For trisomy 18/13 the rate is 1/22. My first baby is healthy and my husband and I are alsio healthy (32yrs).
While I got some relief by reading all the posts, unfortunately no one came back to confirm whether the tests were right or not. It will help us a lot to know that all of you have healthy, beautiful babies, especially after such a long time.

Thanks a lot!


Thanks all of you!

Anonymous said...

Hi your post is giving me a little hope...its been a week we received a call from nurse saying I screened positive for SLOS my estriol low at 0.29 and odds are 1 on 10...ultrasound showed no abnormalities however they insisted on me getting the amnio. I am currently waiting should receive some results next week. This is the longest time of my life!

Ashley LaFrance said...

Please email me
I'm going thru the same thing..trisomy18
Ashley700832000@yahoo.com

Anonymous said...

We got the call yesterday. 1:10 for trisomy 18 and 1:5 for slos.
We have to wait 1 1/2 weeks to even get in for the amino. I am 18 weeks today.
Please write me.
Schur1lm@cmich.edu
Schur1lm@cmich.edu

Anonymous said...

Ok so I got the harmony test done at 12 weeks. All those test came back great no abnormalities. I went for 20 week u/s they said they were having a hard time getting a good view of the heart so they sent me to a perinatal specialist to do a more advanced ultrasound. They also did a amnio that day I got results from FISH test in 4 days which the nurse called and stated I tested positive for Trisomy 18. I was just wondering if anyone else has experienced good blood test results then bad FISH results and if so what was your outcome. I am getting a second opinion this week and would love any information

Anonymous said...

My name is Anndrea also would not let me leave name above.
Email: anndreastokes@hotmail.com

Anonymous said...

Thank you so much for this post! It really helped me: I got positive quad screen at 21 weeks for Trisomy 18 1:50 ratio. 2 days later got an appointment with genetic counselor at doctor they did a detailed u/s which was normal no markers seen at 21 weeks and 5 days. Likely don't have T18 got offered two test one Maternit21 and amino. One invasive on non-invasive both with >97% sensitivity and specificity. We went with the Amnio just to find out faster (2 days vs. 7). I'm 29 y/o no high risk profile likely don't have the trisomy and will never get the quad screen again but I needed to have the diagnostic test and put my mind to rest. I know it was riskier than a simple blood test but it for my piece of mind it was worth it! I hope no one has to go through this it is one of the worst mentally and emotionally anguishing experiences of my life! Good luck to all and thanks again for the post! Now the wait for 24-48hrs for FISH results and the next 2 weeks to make sure I have no complications! Keeping my fingers crossed!

marie fuentes said...

Hi,

I can say I feel the Pain you went though, as we as a family is currently ging though the same, recently My 24yrs old daughter was told that she tested positive for t-18, 1:50 , We are devastated, at this point we are waiting to get in with a High Risk doctor in one more week, the
waiting is unbearable, the pain we are feeling is horrible, my poor baby is 19 weeks and has fallen into such a bad depression,
I myself can't sleep,I don't know
what to do, I just want the level 2 done asap, but can't get in asap here in Orlando Florida.
I don't know how they can make expeting mothers wait for such of an emotional stituation.

Anonymous said...

Thank you so much for posting this blog. I got a "high risk for Trisomy 18" comment at the end of my First Trimester screening. The risk seems to be 1/175 so I'm hanging onto those 174 chances that every thing will turn out to be fine.

I am very lucky to be able to do the non-invasive prenatal diagnostic test which I did yesterday morning and will allow me to know whether my baby has any of the most common abnormalities without risking miscarriage.

I am still scared to death and can't seem to thing straight. I search the internet all day for people who have been through the same experience and had a happy outcome. I am so scared... I don't know if I'll manage to wait 15 days to get the results.

Sonia

ebony sellers said...

I received an "elevated screening result" for Trisomy 18 on Monday. I have not slept well and its really all I can think about. I'm on the internet all day and I'm waiting for the doctor to call me with the next step.
My results were 1/100, if I heard her correctly, I kind of went deaf for a moment.
I know its only a screening and not a diagnosis, but I wasn't expecting to hear it at all.
Praying that everything will be ok for my baby girl. I honestly don't know what I will do if things don't turn out ok. I want her so bad.

Kedra Hill said...

Thanks for this post, I have cried all day since I got the call trisomy 18 after quad screen but all u/s looked good. I am 37 and this is my first child a little boy 21w1d I think I will put off telling family until the final results back. THANKS again.

Kedra

Anonymous said...

Thank you so much! If you could email with me Teresa.e.quimby@gmail.com that would be wonderful. :) I'm going through this too. Any comfort I can find is reassuring.

Tawners1@gmail said...

Yes thank you we also got pos results for both tri 18 and SLOS... Greg and Tawny Hartney @ tawners1@gmail.com

Unknown said...

Thank you for sharing your story. I am 28 years old with a healthy 6 year old little boy. I am 24 weeks pregnant and i am still waiting for further genetic testing. Its been almost 2 mos. Since ive had the prenantal screening which came up postive for trisomy 18. My ob ygn referred me to a specialist and after waiting 3 weeks for my appt. The receptionist calls me the morning of my set appt date stating i missed my appt and have to reschedule for another 2 weeks. There is no way i missed my appt i would never. This is so important. The receptionist was very rude to me yelling at me that its my fault and that i need to be responsible. Ive never missed an appt in my whole life. Now ive waited another 3 weeks to set another appt for another specialist that is 70 miles from where i live. So my appt is this thursday. And the new nurse just informed me that not only i tested positive for tri 18 but i also tested positive for Slos. The new nurse was very sweet to me and she said that shes sorry that i am going thru this much anxiety. Most genetic testing is done earlier. And now im 24weeks. Im scared to death. I cant stop crying i havent been able to sleep since my doctor first told me something may be wrong. Im freaking out so much.
I hope my little girl will be ok. :-(
My name is Ruthie
Blueskies_87@outlook.com

Anonymous said...

I just want to say that you described my life...the two longest darkest weeks of my life. My blood showed a 1:5 chance of t18. As a 41 year old pregnant mom, I felt lounge I was doomed. After the US, everything looked great!! except...my baby boy (so excited he was a boy! But than sadness came again) had choroid cysts on his brain. This took me to a 1:3 chance that my baby would probably have t18. I immediately agreed to an amino, any fear of m/c gone when I heard the 1:3 odds. I don't remember a thing about the amnio. Did it hurt? I don't think so. I was too worried to care about something as mundane as physical pain at that point. I found out it's totally possible to be in terrible emotional pain as well as being emotionally numb at the same time. Who knew?? Of course all this went down on a Friday... So, I too heard nothing until the following Tuesday. I honestly don't know how I made it thru those days. It was so horrible. We got the first set of results telling us that my baby boy didn't have t18. Received the second set of results a week later. He is now a precocious 4 year old. I truly wish they had better screening in place for this. Too many parents are driven almost mad, only to find it was all a big mistake in the end :(

Anonymous said...

Im 22years old, with a healthy 7year old baby boy, im currently pregnant and my 2nd blood test cane back positive for slos 1:190 ive been killing myself looking this up and i rarely see any positive screening for slos im just worried and appreciate any experiences out there for positive on only slos its very scary considering all other tests were fine but this happens to be the only positive one,

Anonymous said...

hey, my name is jenny and i was just called in with the 18 result positive 1 in 89... im freaking out cant stop crying and im going in for the amnio tomorrow morning my email in jenny21aad@yahoo.com any hints you can give me.. thanks a lot for your story.

Kedra Hill said...

Hello everyone I posted my story on 8/1/2014.. I am happy to report the tests were wrong I am the proud mom of a happy healthy smart beautiful son. I will not have the genetic tests done if I am lucky enough to have a second baby. The false positive caused me to lose over a month of pregnancy bliss. My advise is to go by the sonogram not the test. Most stories I found with a positive t18 results but normal ultrasound the baby was OK. I hope all of you soon to be moms have healthy babies.

Anonymous said...

Amber, and everyone who has commented with their own story since, this is seriously the most positive online insight into a positive screening that I have found. Thank you. I tested positive for SLO a week ago and have another week and a half to wait until my ultrasound and genetic counseling. Seems like an eternity to wait. I'm so happy to hear other moms say their results were negative after further tests. Gives me a little piece of mind during this very difficult time.

Unknown said...

Hi moms, I know this post is old but hopefully someone will see it and maybe talk with me. I'm 35 healthy and have 3 healthy kids. I had the progentity and quad both was postive for T18. I had a us at 15 weeks baby girl looked fine. Had nxt us at 20 weeks they seen a couple choroid plexus cyst on her brain. I'm so scared and worried all I can do is cry.
Email shannonj0316@yahoo.com

Anonymous said...

I tested positive for slos 1:120 chance on the screening. I go into for further test in a couple of days! Praying everything is ok.. I see some people on here had tested positive and it ended up being a false result. Praying mine is false as well. I love his little girl so much and want her to be healthy. I will post my final results when I know. praying for myself and all of you on here.

Tess Henke said...

Today I saw my genetic specialist.. I'm 26 years old and pregnant for the first time. I had my quad screen done over a month ago and just now had my GS appointment. originally I was told I had a 1:24 ratio for Trisomy 18 but that's because they put my initial due date (august 12) in for the screening.. they based this off of the date of my last period (which I was not exactly positive of).. the genetic specialist asked me if she could re-run the test with the due date given to me at my first initial ultrasound because that is more accurate since I wasn't positive of the date of my last period (the actual due date is august 20th) and the results came back 1:57. We did the ultrasound and the sonographer said the US looked great. Baby boy weighs 12 oz at 20 weeks and 3 days. They told me 90% of the time they can see t-18 through US, but I still knew their was that 10%.?We decided to get the amnio done. I may just not handle pain well, but I thought it hurt! My OB genetic specialist saw me in tears and reassured me that they will try and get my results as soon as possible. Hopefully I will hear the prelim results by Friday, but I'm still so terrified. It's hard not to google search everything. Asking for prayers. Praying everyone has happy, healthy babies.