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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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1222635 tn?1366396286
well i cannot give you advice from experience but all i can tell you is that although rare there are certain risks to an amnio. finding markers on an ultrasound for genetic diseases can indicate that the baby has those problems but doesn't diagnose, hence the amniocentesis. i would discuss with your husband whether or not you would be keeping the pregnancy and baby if he does have something wrong. if you think adoption would be an option for you then you would need to get the amnio to confirm. or get the amnio just to prepare yourself or give yourself peace of mind.
i hope your son is okay and ill be praying!!
Helpful - 0
927862 tn?1244143255
Thank you mom2ariana for the advice and prayers, I am a firm believer in the power of prayer. I am open to the idea of an amnio but I want the give the baby a fighting chance, I want to be at least 4 more weeks pregnant incase it sends me into labour. I am just praying that when we go back in 2 weeks that they will find something positive and that they baby is growing, at least then we will see it might have a chance. Thank you again.
Helpful - 0
1222635 tn?1366396286
i agree i think it is best to wait at least 4 weeks.
if it were me i would opt for the amnio.
also i should have mentioned if you are dealing with something like the possibility of trisomy 18 you might want to be prepared as most babies do not make it to their first birthday. with down syndrome, you obviously don't have to worry as much but since they do not know which it could be, a diagnosis would be important.
lots of babies with markers on ultrasound are perfectly healthy. :) my baby showed a short femur (a soft marker for downs) and i was very worried and sent for an advanced ultrasound...everything turned out just fine and she is healthy as can be!! there is a possibility your little boy is a-okay so try to cling to that hope. :)
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202436 tn?1326474333
I can't give you much advice but I can tell you this.  A choroid plexus cyst in and of itself is not cause for concern. Without other softmarkers docs don't usually think anything of them. My middle girl had one but had no other markers, her cyst resolved itself and she's now almost 7 with no problems. HOWEVER if there ARE other markers it can be a sign of Trisomy which has to do with extra chromosomes.

Trisomy 21 is more commonly known as Down Syndrome. Which, as most people, know is not typically fatal.  While DS children develop slower physically and mentally they can become very high functioning and lead fairly normal lives.

Trisomy 18 is known as Edwards Syndrome and is typically fatal. Most babies with T21 die before birth.  Of those that survive until birth usually only live a few days.  In rare occurances the infant lives until around the age of 1.

As for having an amnio, there ARE risks associated with it including infection and possible miscarriage.  The amnio can give you the essential information you need to make decisions.  Some people who discover their baby has T21 choose to terminate.  Others prefer to let nature takes it course.  Tests CAN be wrong.

I can tell you this. If I were in your shoes, I would probably opt to NOT have the amnio. I would trust that God would handle my baby and however he felt it should turn out, it would.  Knowing that there is a change of T18 or T21 I would learn all I could about both just in case but as far as the extra genetic testing I would go no further than the level 2 sonogram.  This of course is just MY opinion. Good luck and please let us know how it goes at your next appt.
Helpful - 0
1209036 tn?1299178657
Hi there, when I had my anatomy ultrasound I got a call from the doctor. He told me and my bf that our baby had bilateral choroid plexus cysts (one on either side of his brain). Now that was the only thing shown on my ultrasound so I didn't have as many "markers" as you seem to have. We were told that the cysts, if nothing else is found, can be a nprmal developmental process and really is nothing to worry about. We were given the option to have the amnio but the doc said it was not worth it since 1 in 200 amnios results in the loss of a fetus. We went for the 2nd ultrasound and had the chance to meet with a high risk radiologist. She was actually surprised that the doctors even bothered telling us about it be`asue they are fairly normal.The cysts are mostly linked with trisomy 18 but other telltake signs would be rocker feet, and hands that stay clasped and wont open. I am not sure about down syndrome though. I hope and pray for your baby that everything is fine! Do you have the option of going back for a repeat ultrasound before you make your decision on the amnio?
If you could wait the 4 weeks and then do another ultrasound, things might have changed.
Helpful - 0
1163675 tn?1274627512
I am so sorry you are going through this.  I wish doctors would be more frank with people and stop being vague with "i don't knows" and leaving it at that.  *hugs*

I am not familiar with the results you have, but I am willing to look up anything and share it with you.  Let me know.

I think your best bet is to wait for an amino (if you choose to have one) until baby is of the age to survive outside the womb if something such as an infection or induced labor happens.  Doing an amino too soon could leave baby too vulnerable outside the womb.  There is no shame in waiting because either way the tests results will be the same, it just gives baby a better chance of survival.  Remember if your baby is developing 2-3 weeks behind, take that into account when considering a time for the amnio,

I think it is important that you receive some counseling from someone who is aware of your situation.  Information is power.  If you know what to expect then you and your doctors can prepare now.  In some cases, it is better for moms to ungo a c-section (which I only advocate for in REAL need) rather than vaginal delivery, especially when there are brain or heart problems.
Helpful - 0
927862 tn?1244143255
Thank you momariana for coming back on to post, I really appreciate it. I am delighted to hear all went well for your baby. The more *good outcome* stories I hear the more positive I can feel about my pregnancy. :)

Thank you LosingMyMindinGA for the reply, the info you have given is helpful. The more I can learn about the possibilties the better. I will come back and let you know how I get on at the next scan/appointment on the 6th.


Thank you Cherylsangel for coming onto reply. I do have another scan on the 6th of July. And the doctor said that I can change my mind at any time about the amnio. I am hoping to have a clearer picture at the next scan before my partner and I can think about making a decision.


Thank you DoulaSummer for coming on to reply and for guidance. I agree absolutely that I wont even consider an amnio until the baby is showing 26 weeks by its growth not by my weeks. You are right too, I wish I could find someone who is aware of the situation or similiar situations. I am hoping by coming onto these forums that I will find people in my place or have dealt with similiar cases. I have found plenty of information on the cyst, heart and growth seperately but nothing with all three *markers*. Thank you again for your advice, I really appreciate it. :)
Helpful - 0
927862 tn?1244143255
Bumping in hope to find more information.
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.  
Helpful - 0
927862 tn?1244143255
Thank you very much LosingMyMindInGA, I would really appreciate that. :)
Helpful - 0
202436 tn?1326474333
Thanks Cindie, I knew you'd have answer for her :)
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
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
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
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
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, 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
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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 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
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!
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927862 tn?1244143255
Thank you for your prayers tsie. :)
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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
363110 tn?1340920419
LosingMyMind is correct about babies having IUGR. My first had it which is why his measurement was so off.
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