Mixed Emotions - Follow up to genetic U/S

Mrs D~S · February 2012

A few weeks back I posted that they found bilateral choroid plexus cysts on our babies brain. I was sent to a perinatologist for a genetic U/S. We had our U/S yesterday - the cysts are gone YAY - and there are no other markers, but the perinatologist tells me that he has seen similar ultrasounds with babies born with Trisomy 18. Now we have 4 months to go with this pregnancy and I am becoming extremely depressed.... he gave me the odds of 1 in 400, but not knowing is killing me. He told me I have the option still of an amnio, but he wouldn't recommend it for how far along I am. I was expecting a definitive answer, and I received the complete opposite.

ipookie8 · February 2012

Glad that those cysts are gone, I was thinking of you the other day and hoping everything cleared up for you!

I hate when they say stuff like that and it gets you all worked up for (hopefully!) nothing.

I'm sure your little love bug will be just fine.

Remain positive and try to keep your stress down... Massage, anyone?

BrianaNicole03 · February 2012

Ughhhhh...don't you wish they would just hush sometimes?!?! I know the feeling all too well. Good luck to you. Prayers, prayers, prayers.

mamameg11 · February 2012

We are going through the same thing, but we had a much better response from our pernatologist. I think some of them feel like they need to say something like that ("I've seen similar ultrasounds with babies w/Trisomy 18") in order to protect themselves from lawsuits. Our baby had a CPC, no other markers and our genetic screening came back with the best possible numbers. My perinatalogist said she thinks baby is just fine and not to worry. In fact mine said she didn't think I needed an amnio at all. I think you just got a jerk perinatalogist who is more concerned about disclosing everything to prevent lawsuits instead of reassuring a worried pregnant woman. I would not stress and try to enjoy this pregnancy as if nothing is wrong. That's what I'm trying to do, even though it was hard at first.

JennDave+1 · February 2012

So sorry you are going through this. Try to keep positive and don't let it get you down.

theseaword · February 2012

I'm sorry they couldn't give you a 100% answer. I would be stressed as well. Keep in mind that 1 in 400 is a .0025% chance. Most likely your baby is healthy.

erichesin · February 2012

Im soory, that would drive me crazy not knowing it would br cary. Hoping for the best, t&p to you!

Olive44 · February 2012

mamameg11:
We are going through the same thing, but we had a much better response from our pernatologist. I think some of them feel like they need to say something like that ("I've seen similar ultrasounds with babies w/Trisomy 18") in order to protect themselves from lawsuits. Our baby had a CPC, no other markers and our genetic screening came back with the best possible numbers. My perinatalogist said she thinks baby is just fine and not to worry. In fact mine said she didn't think I needed an amnio at all. I think you just got a jerk perinatalogist who is more concerned about disclosing everything to prevent lawsuits instead of reassuring a worried pregnant woman. I would not stress and try to enjoy this pregnancy as if nothing is wrong. That's what I'm trying to do, even though it was hard at first.

This was our experience, also. All of the drs and the genetic counselor I have spoken to have assured me that T18 is pretty severe and almost always there are other signs. They are all telling me my baby looks healthy is probably fine. Of course they aren't allowed to say for sure. My original T18 risk from my NT scan was less than 1/10,000, so they peri told me it's maybe 1/8,000 now. Not much of a change. Is there another peri at the practice you could talk to? I've talked to more than one at the same practice about it, and some are better explaining the risk than others.

pixieprincss · February 2012

I am sorry you are stressed and have this over you. 1 in 400 is really good IMO. I think that was a bizzare thing for the dr to say to you. When DS had a bright spot on his heart (echogenic cardiac focus), my OB told me that if this was the old days when he could withhold info, he wouldn't even mention the spot because was *that* not concerning to him. His phrasing was weird, but I appreciated his sentiment. Because of another issue, I ended up getting a second anatomy scan at 26 weeks and they saw that the spot had already resolved itself. LO was born perfectly healthy. Your thing is different, but I hope my story can encourage you to have peace. Also, don't forget the power of a second opinion. You don't have to go with just what he said. It is perfectly within your rights to see if another doctor (or a genetic counselor) has something more helpful to say.

We also worried about T18 with DS because of high AFP. Did you do the 1st tri screening and was the NT normal? What about your 16w bloodwork? If just this thing that went away is your only clue--I would be reassured. We were told that T18 babies usually have many other signs in the anatomy scan.

Aim33 · February 2012

((((Hugs)))) That is extrememly stressful. I'm so sorry you are going thru this. I wasn't aware that there was a cut off to do an amnio. I wonder if it makes sense to push ahead with one since you are feeling so anxious about this? That is definately your call. I was given a risk of down syndrom 1/30 chance. I was very upset the first week I heard. I have to say that I have now come to peace with it and the way I see it is that I will get the baby I am meant to get. My husband and I will love him no matter what.

I wish strength and peace for you during this hard time.

Aimee

mzcmba · February 2012

I had that during my 20 week scan with DD - they found a CPC, but no other markers. I was freaked, but I read some studdies online and if there are no other markers (the tech had looked carefully at the heart, and both hands, making sure to count 5 fingers, and the feet looked normal) then a sole CPC marker never resulted in Tri 18 (only if it was combined with other markers). Also, my sister who is a pedi said that sole CPCs are in 1-3% of the population, often they can stay in the brain through adulthood, and there is no adverse affect from them. My DD is perfect!

If you dont have NT scan or 1st tri blood work results to help the odds get better (I had great results and it changed my odds to 1:3000, and I was 35 at the time) and you think you are going to worry for the next 4 months, then I would consider and amnio, because the risks are low for that too (1:400.)

Good luck!

mzcmba · February 2012

Also, I know amnio are sometimes done in 3rd to test to see if the lungs are developed. As long as there is adequate amniotic fluid, you shoudl still be able to get a amnio at 5 months.

Your Dr sounds terrible and dismissive and I would get a second option.

WeBelieveInMagic · February 2012

When I was pregnant with DS we did a CVS in order to find out if he had cystic fibrosis. The results came back in and we were told that he was no affected, not even a carrier. My husband and I were hugging and crying from sheer happiness when my O.B. says to us, "Nothing is 100% of course and there is still a chance that the baby will have the disease." We just sat there stupefied. A few minutes later he also said. "Well, we got over that hurdle but there is still so much that can go wrong in pregnancy." Doctors can be insensitive sometimes.

maurs98 · February 2012

My husband helped me when we had a risk for a child having SMA and the waiting game... he looked at it from a numbers perspective... with a 1 in 400 risk... just think... your baby's chance of being totally fine is 99.75%!!! That's a pretty good number to put your mind at ease.

Mixed Emotions - Follow up to genetic U/S

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