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927862 tn?1244143255

24 weeks pregnant and they have found problems, please help

Hello Ladies,

I am hoping someone out there has experienced what we are now and might be able to shed some light on what's happening to us.

I am 24-25 weeks pregnant. My due date is approx 11th Oct 2010. We have gone for multiple scans this week as they have found some potential problems with the baby. They have found a choroid plexus cyst in the baby's brain, a calcium build-up in one part of the baby's heart. They are also saying the baby is not growing as fast as it should, it's measuring about 22 weeks and is in the 2% percentile (?). They tried to have a good look at the hands but she could only see one hand clearly. The feet look fine. Also, she wanted to look at the baby's lips and face but she couldn't see those clearly either.

She said something about possible problems called triosoly 18 and 21 (not sure if spelt right) and suggested an amnio. My partner and I said we need some time to think about it. The specialist is on holiday for the next 2 weeks and our next appointment is on the 6th July. She gave us a bit of a scare because she said that if we were in America or Canada they would be talking to us about *pregnancy management* and that they would be discussing possible outcomes. She then said, "if you were to ask me if your baby is ok, all I could say is I dont know", which totally freaked us out. We have been trying for a baby for 4 years before we got pregnant and now it just seems so unfair that something could be wrong.

My partner and I are really just in limbo at the moment and are finding it hard to wait till the next appointment.

Can anyon give us some advice?

Thank you
Una
Best Answer
363110 tn?1340920419
Hi!  Una,:)
Congrats on your pregnancy,

I'm Cindie, the mom LosingMyMind referred to, and I have a 2 year old named TJ who's got down syndrome. I apologise for not getting on here sooner, but hopefully I can help.
I had all the prenatal testing including the amnio done for another genetic disorder I can pass on and we found out quite by suprise. :)  the majority of my response has to do with the deadlier trisomes, T18/T13....

A couple questions for you:

#1 are your dates correct for your pregnancy? ultrasound can be off by days or even a couple weeks.
#2 When they got a view of one of the hands was the hand opened or closed (into a fist)?

#3 Were your fluid levels normal or were they low/borderline?

My reason for asking, is #1~ if the dates are off, then that could explain why baby measures small.

#2 If a hand/ hands are OPEN on an ultrasound that's a great indicator that it's NOT T18. Babies with T18 can't open their hands normally

#3 if your fluids aren't normal it can affect measurements and their ability to get clear views of things.

The Calcium build up is referred to as an EIF, a very common marker in babies, even healthy ones. My first child that has Down Syndrome didn't have one, my 2nd child who was healthy DID.

The Chroid Plexus Cyst is another fairly normal marker occuring in%1-3 of pregnancies between 16-24w and don't themselves cause any problems.  

The marker DOES raise the odds of a pregnancy with T18 to about 1:300

And your growth measurements aren't THAT far off. it's common for most ultrasounds to be up to a week off, as I mentioned sometimes more.  Some babies with a trisome especially one of the severe ones like T18/T13 tend to be much further behind. (for example: 24-25w, measuring 19-20w)

With Down syndrome:  There would be multiple markers. Not only would growth be off, but the measurements of the head and stomach would be a bit off when compared to the lengths of the body's long bones. babies with DS tend to have bigger tummy's and heads.

They need to be sure they take a look at baby's heart with many trisome issues there are normally heart defects, or holes that can be found on ultrasound much of the time.

I would suggest, in my opinion only, that you have another ultrasound and see if they still detect these issues, and if so,  if you definitely want to know before the baby is born you may choose to proceed with an amnio.

The risk for an amnio to have complications like miscarriage is 1:200- 1:300, which are about equal to your risk for a trisome or genetic issue of some kind based on your markers IF their still there at your next scan..

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Regarding Down Syndrome specifically, in my experience my son measured off by about 3 weeks or so in size at most of my ultrasounds. I did have an amnio done at 16 weeks to see if he'd inherited a skin disorder I can pass on %50 of the time.

His markers on ultrasound were:

Head/belly measurements were off some
SIZE measurements were off for the pregnancy
Noted heart defects (3 holes later repaired by surgery)

For my son, those were his main things. The amnio is %99.9 accurate, and most places will tell you anywhere from 2-10 days if your child has a trisome. they're called F.I.S.H. results and are preliminary but reliable.

If it gives you your peace of mind, and you want to consider your "options" , and your doctor or midwife suggests it then you may want the amnio.
however if it won't affect your decision to continue the pregnancy, and your willing to wait then you might want to hold off.

Your makers CAN resolve themselves, babies catch up in growth all the time, the cyst can dissapear, and in many cases that  calcium deposit will fade by the time the child is 1 year old.

If you need to talk, have any more questions, or specific questions on the amnio procedure or other tests feel free to ask on this post or send me a private message:

http://www.medhelp.org/personal_pages/show/304?personal_page_id=304

Also if you want to talk to another mommy who's got a child with Down syndrome (T21) you can message Dragon1973 (her name is Sandi)

this is her page:

http://www.medhelp.org/personal_pages/user/1227139?personal_page_id=304


Sandi is a good friend who has just as much experience as I do, and has great references if the child is diagnosed with a trisome. I do better with the prenatal aspects. She's moderator and community leader to both the genetics forums and the Down Syndrome forum,
Those links are here:

Genetics:

http://www.medhelp.org/forums/Genetics/show/146?personal_page_id=1186587

Down Syndrome:

http://www.medhelp.org/forums/Down-Syndrome/show/166

~~~~~~~~~~~~~~
Hopefully these help, and I'm also sending you a quick personal message  :)
Cindie


31 Responses
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927862 tn?1244143255
Thank you Neecy :)

Update: Just back from the hospital appointment. They say now that they can't see the cyst anymore, which is great news!  :) They are still concerned about the size of the baby as it is still showing a few weeks behind. On a good note, I don't need to go back for 4 weeks yay ^_^ They offered us an amnio again today, which we have declined, I don't see what difference it will make, it wont change the decision to keep the baby. Well, that's all the news for now, hopefully I won't need to update for 4 weeks.  :)
Helpful - 0
1315833 tn?1313028720
good luck to u and ur baby no matter what thats ur baby girl in there and she will be perfect in every way for u. also a lot of times they r really wrong about this stuff and this may be another one of those times. i remember this one lady they had told her all kinds of stuff that her baby had ds and spina bifida and her baby was neither!! i will pray for u and ur family
Helpful - 0
927862 tn?1244143255
Hi Ladies, sorry for the delay on getting back on, I have had a lot on my mind. Well, we went for our private scan on Thursday. The sonographer was very nice and patient with us. After a thorough scan she sat us down to give us the results. She said she found 3 markers: The cyst, the calcium on the heart and now she found what I think she called a flagging femur? She basically said the legs are a little short compared to the rest of the body. She also said that the baby was still measuring small for it's age.

On the up side side, the face, hands, feet, everywhere else is looking good. And she confirmed that it is 100% a little girl we're having. Where to go from now, we have a hospital appointment tomorrow morning at 11am. I guess we will just wait and see what they say tomorrow.
Helpful - 0
363110 tn?1340920419
I look forward to seeing what the result of your scan is! :) maybe the hospital feels it's not something too terribly serious (and are only telling you to prepare you in case) which is why it's not in the report.
Helpful - 0
202436 tn?1326474333
Most definately better to get a 2nd opinion especially with all that you have fuond recently.  
Helpful - 0
927862 tn?1244143255
HI everyone, just a quick update. We had our routine doctors appointment yesterday. She was shocked to learn about all the problems, the hospital had not been in contact with her about this at all. :S We have scheduled our own private detailed uptrasound for tomorrow to get a second opinion. We want to be prepared for when we have our next appointment in the hospital on Tuesday.

We have been looking through our notes as was our doctor, and the hospital did not put in it the last 2 scans or reports, so we feel they are leaving some things out at this stage. Best to get a second opinion on things >.<
Helpful - 0
927862 tn?1244143255
I am delighted everything worked out for your little one LosingMyMind, the more positive stories I am hearing the more positive I can be with my pregnancy. I was so worried when I first posted here and as the days go by and the more I am learning about things, the less worried I am becoming. You ladies are angels, you really are. ^_^
Helpful - 0
363110 tn?1340920419
LosingMyMind is correct about babies having IUGR. My first had it which is why his measurement was so off.
Helpful - 0
202436 tn?1326474333
I can tell you that sometimes babies suffer from intrauterine growth restriction and there are NO genetic issues involved.  My first daughter suffered from IUGR, she was born perfectly healthy at 40wks 3 days via emergency c-section(becuase of no fluid and breech).  She was in NICU for 4 days becuase she was under 5 lbs (4lbs 15 oz) and she had a little difficulty sucking/swalling for feedings...After 4 days she went home and is now perfectly healthy and will be 14 next month.
Helpful - 0
927862 tn?1244143255
Thank you for your prayers tsie. :)
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1351369 tn?1294831629
praying for you.put everything in God's capable hands. it's wonderful that u believe in the power of prayer because prayer does move the heart of God.
All u ladies offer advice that one would pay hundreds of dollars for.keep it up!
Helpful - 0
927862 tn?1244143255
Hi Joy, :) I agree with you, I would let nature run it's course. I am pro-choice and all but I wouldn't do it myself. I have to say, when she said that, that was the first time I felt nervous.

As for the growth, they found the 2+week difference between week 16 and 24. And I think there was a difference earlier as my original due date was 26th sept. But as you said, the other things could resolve themselves and the doctor said as long as the baby continues on the 2nd percentile and doesn't go lower than the baby should be fine. I'm keeping positive. :) Thank you for the reply, I appreciate it.
Helpful - 0
Avatar universal
Pregnancy management is a fancy way of saying they would offer to terminate your pregnancy (kill the baby). Since they do not know what is going on and even if your baby did have a genetic anomaly it might be best to let the child live for as long as they are going to live and not take their life. You would live with the regret for the rest of your days wondering, "If I hadn't have done that would they have lived? Would they have been normal and healthy?"

That is just my PERSONAL opinion, not a professional one. I wish you much luck and in all honesty your baby could be very normal and very healthy. It is normal for pregnancy dates to be off by as much as 2 weeks and each baby grows at their own pace. If baby continues to not pick up their growth then it might be cause for concern. The other issues (cyst and calcium) CAN resolve themselves before birth.
Helpful - 0
927862 tn?1244143255
Hi Cindie, I will pray for you that you are pregnant! :D I will think pink! :D I love the names, especially Temperance Ann, it is beautiful. Woah,  3 under 3, that is going to be fun lol. I wish you the very very best of luck and I look forward to hearing the good news soon. :D :D
Helpful - 0
363110 tn?1340920419
Wow! 4 years is a long time. It's awesome you've got her so congrats on the girl

I'm hoping I'm preggo right now but won't know for a few more days (til I can buy a test even if I'm late)

my babies would be 16mo and 15mo apart, so 3 under 3 but if it were a girl we'd be done. We have 2 boys right now. so we're hoping for PINK babydust.

the original plan for us was if it were a girl I'd name her after the baby my mom lost at 5mo Karissa Anne, but now we're thinking Temperance Anne. DH likes Temperance (like on the show BONES)

Cindie
Helpful - 0
927862 tn?1244143255
Hi Cindie. :) We are being very positive about the baby. The one thing we re sure of it's just a little on the small side, unlike the other markers, they could be nothing at all. We would be happy if all the baby will be is a little small, my friends had small babies and they all turned out perfect. :) Thank you all so much for your prayers and well wishes.

Both me and daddy were big babies, lol. Our two sons were both good sizes, both 7 lb 10. My bump is quite big, I look like I am ready to pop when I stand up, so we were a little surprised that the baby is small. They think it is a little girl. The last 3 scans they said it looks like  girl, they cant see any male *bits*. This baby is long awaited. We were trying for this baby for over 4 years and had been diagnosed with secondary infertility. I have had some lletz treatments and were told not to attempt to get pregnant for at last 6 months after but after being diagnosed I thought there was no problem. And as luck would have it, 6 weeks after the treatment I feel pregnant. The old cliche, the moment we stop trying it happens lol. :) I am so happy because I was really scared of the thoughts of the fertility treatments and prayed everyday to God to help us.

Boy or girl I will be more than happy but a girl would be icing on the cake. We always wanted a little girl. My parents only have grandsons, so I know it will make their day too if its a little girl. We will be naming her after my Mum if it is.

Helpful - 0
363110 tn?1340920419
Oh and sometimes baby isn't positioned right for clear pics. we almost NEVER got clear pics during my 2nd pregnancy. he always had something smooshed against my belly lol.
Helpful - 0
363110 tn?1340920419
Una~ :) Thank you, I've been part of this forum now for a couple years and have made ALOT of great friends.

Remember sometimes babies are actually just little. Were you or the daddy small babies?

I was 4llb 3oz (6w preemie) and my 4w preemie TJ was 5lb5oz and Mason was 6lb5oz so on the smallish side. My tummy NEVER measured on dates. it was nearly always off by about 4-6 weeks.

It is OK that baby had 1 open arm/hand. that's a GREAT sign!
If baby has T18 here are some symptoms that can be seen on the ultrasound and all babies with T18 have multiple problems:

T18
Clenched fists, gastrointestinal problems, central nervous system abnormalities, and Genital/urinary problems. along with the minor markers like the choroid plexus cyst.

Good luck with your scan on July 6th, I'll be praying for you that everything resolves and that baby looks GREAT. :)
I'm sure the other praying ladies on here will have your little one in their prayers.

Question, just curious and if it's too bothersome I understand:
Do you know the sex of the child yet?


Cindie
Helpful - 0
927862 tn?1244143255
Hi Cindie and thank you for the congrats and for getting back to me. :)

I will answer your qustions as best I can:

#1 We are absolutely certain about the dates. We had our first can at 6 weeks that said at the latest our due date is 11th Oct. They said it could be as early as 26th Sept but we are going by the 11th Oct. We had our second scan at 12 weeks and it was already showing  signs of being on the small side. Then we had one at 16 weeks. It is already showing over 2 weeks difference  between the 16 week and 24 week scan. I could even be another week but they are not sure. They say the baby is measuring less than 22 weeks.

#2 Only one arm was opening up. The second arm was constantly in a closed fist position in front of the face, which was a little frustrating for the doctor as she tried everything to get the baby to 1. open its arm 2. move it so she could see the face.

#3 I am not too sure about the fluid. I am assuming it is normal as the doctor only mentioned the heart, brain and growth.

We aren't even going to stress to much until after the next scan on the 6th july, so many things could change within that time. I hve faith that it will be ok. As for the pregnancy, we will be continuing with the pregnancy either way. As you said, these things can resolve themselves and could be just a case of bad luck isolated problems.

Thank you so much for all the information on contact details. You have really really put my mind at ease and gave me a lot to think about. At least I feel more informed now.

Thank you Cindie.

Also, thank you so much LosingMyMindInGA for being so kind to me and putting me in touch with Cindie. :)
Helpful - 0
202436 tn?1326474333
Thanks Cindie, I knew you'd have answer for her :)
Helpful - 0
927862 tn?1244143255
Thank you very much LosingMyMindInGA, I would really appreciate that. :)
Helpful - 0
202436 tn?1326474333
I'm going to point this post out to a lady on here who knows quite a bit about trisomy and the markers and testing for it. Hopefully she will log on soon and can help answer some more of your questions.  
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927862 tn?1244143255
Bumping in hope to find more information.
Helpful - 0
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