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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
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. :)
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!
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
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