Update on me

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Joined: 12/01/10
Posts: 997
Update on me

I feel like I've been gone a long time, but I think it has only been about a week or so. This past week has been a roller coaster of emotions for me and I feel like I'm still trying to get myself to a place of acceptance of what may or may not come for us. My follow up level two u/s at MFM was last Tuesday. We had been referred from anatomy scan at my OB office to check for possible ventricular septal defect and kidney cyst. During the second u/s we were feeling pretty good as my OB had made it seem like he wasn't too concerned about their initial findings and everything seemed to be going smoothly during the current scan. The MFM doctor came in afterwards to tell us that while we seemed to have a healthy baby that there were some concerns of unilateral choroid plexus cyst, a small membranous VSD and a pelvic cyst likely on the bowel. He said the VSD could close up on its own or if not, it may cause no issues for child or it could require medications and/or surgery down the road. He didn't seem too concerned about the cysts individually as they could be normal variants however because we have all of these anomalies together they could be a sign of something else going on. So I ended up having an amniocentesis that same day. Our FISH results (the rapid test that checks just a few chromosome issues like trisomies 13, 18, 21) came back normal and the full karyotype results came back yesterday as normal so that ruled out the most common chromosomal disorders. I want to feel relief at this point, then the genetics counselor who called with results says that we also have the option to do DNA microarray test that would look for small genetic duplications or deletions that may (may being key word here as some of these may not manifest as any issues later on) cause problems. I met with her today to go over the u/s findings and test results. I told her I've pretty much decided just to let it be, we would be having this baby regardless and at this point more information will just make me feel more anxious. I brought home copies of the tests and u/s results for DH to look over. We have about a week to make final decision as the cell culture leftover from amnio will only stay good that long. Pretty certain we will decide not to go ahead with microarray though...I'm just feeling burned out from all the testing. I want to enjoy this pregnancy again for what it is and we can deal with the issues that may or may not there later. We have a follow up level 2 u/s at MFM in late December and will probably get a referral for a pediatric cardiologist around that time.

Sorry for the long story. I feel like I should be pleased that we passed the amnio and the u/s anomalies are the more common ones that can either fix themselves or are easily managed, but then I think maybe the amnio isn't giving us the whole picture and we are going to be hit with a whole slew of other problems when baby is born or growing up. Blah...so I'm just feeling down right now and hope that this feeling will pass and I can go back to being excited for baby again because it really isn't his fault or anyone's really. It could be worse...but it's not good either, you know Sad

Joined: 05/22/13
Posts: 349

Hugs!

smsturner's picture
Joined: 05/11/09
Posts: 1303

Hugs honey.
Maybe it would be best to do the test just so you are prepared with information and not feeling so lost? Having the baby for sure anyway, doesn't mean that you don't have a right to get all the information and be prepared for whatever may come.

I really hope that these turn out to be very small issues that you don't have to worry about with your sweet little one. I'm sorry you are so stressed!

Chris_85's picture
Joined: 10/14/08
Posts: 675

oh im sorry you are going through so much, I can only imagin. I also didn't understand half the stuff you are talking about. so yikes. anyway thoughts and prayers to you and your family. I think your right tho the best thing is to try not to worry and enjoy your pregnancy, the rest can hopefully be sorted out at a later time. You will love this lo and be a great mom regardless of the struggles this one may or may not have.

Joined: 12/01/10
Posts: 997

"smsturner" wrote:

Hugs honey.
Maybe it would be best to do the test just so you are prepared with information and not feeling so lost? Having the baby for sure anyway, doesn't mean that you don't have a right to get all the information and be prepared for whatever may come.

I really hope that these turn out to be very small issues that you don't have to worry about with your sweet little one. I'm sorry you are so stressed!

I would get the test in the heartbeat if I thought the info would be clear and helpful. One of the cons with microarray is that they are looking at such tiny parts of the chromosomes and don't necessarily know every little deleted or duplicated part that will cause a problem in every case. So we could get info that would tell us that this is present and usually causes this, or (and these are the parts I don't like about it) that this is present and it could cause this (seizures, cognitive disabilities, etc) but it might not and baby could be fine, or this is present we haven't seen this before and have no idea what this could cause if anything. I don't want to worry about the last two scenarios because then I feel like I will be constantly on the look out for something that *could* be wrong with my baby. That is my biggest struggle with the test which is so odd because usually I'm all about the more info the better. I may try to talk to my regular OB and just get a second medical professionals input, someone who may have a different perspective outside of the genetics discipline and my position as the parent. You know what I have been wishing recently is that I had never heard about microarray testing, then I could just be happy knowing I passed the other tests and prepare for possible vsd issues, but I know they have to offer whatever they can to parents.

Stormy Weather's picture
Joined: 10/03/09
Posts: 326

So sorry that you've been given patchy information that is only going to cause worry. I am usually like you (I want all the info) but I think it's one of the biggest problems with pregnancy these days that we get sometimes too much information, or information that's ultimately useless, and no real answers. I totally understand you not wanting to go through more testing, and I hope you can slowly get back into the swing of enjoying your pregnancy, and taking heart in all the positive signs like kicks and wriggles.

Joined: 12/01/10
Posts: 997

Talked to my regular OB today about the u/s findings and the amnio. I'm feeling much better about baby's health. He said the syndromes that the microarray can find are very rare and he feels fairly confident that baby will be fine based on the kinds of anomalies present in the u/s. He said if there are any issues, they can be addressed later and testing can always be done after birth if there are concerns. I called genetic counselor and left message to discard the cell culture as we will not be doing the microarray and I felt an almost immediate relief like I was no longer carrying this heavy weight that has been wearing me down the past two weeks (well other than the belly in front Lol

Joined: 10/05/09
Posts: 672

Just catching up on what you wrote - I am so happy you feel some relief!! With DS we "only" had the CPCs and were told by my doc that it could be a sign of trisomy 13. I immediately freaked out and worried myself to death! We waited a few weeks to see if they had resolved but were also offered additional blood testing that we hadn't opted for earlier in pregnancy. We ended up turning down the blood test because we felt that there was a fair amount of uncertainty and that it might just cause more questions and worries if the odds came back poorly. After that I felt better immediately and just sort of went back to being excited about the pregnancy (even though that tense feeling never totally went away until after DS was born and was fine).

In any case, I think all that testing can drive you crazy! You have done quite some good tests already and seem to have got good advice from your OB. I hope you can go back to relaxing a bit and enjoying those kicks and that this whole ordeal will be a thing of the past.

Big hugs!

jski88's picture
Joined: 07/27/10
Posts: 461

Glad your feeling a (little) bit more relaxed. I'm sure this can't be easy. It sounds like you are doing everything you can to remain positive and that's so important! Your doing great momma- hang in there! (Hugs)

Joined: 12/01/10
Posts: 997

Thanks for the encouragement everyone Smile My OB clinic had me come in for another ultrasound today to check on growth and such. The tech was able to check on a few of the areas of concern though her machine cannot check the heart with as much detail as the MFM machines. She thought the choroid plexus cyst looked like it had resolved. The bowel cyst she had a harder time locating this time around but when she did find it she thought *maybe* it looked smaller and at the very least had not become larger and more pronounced. Regarding the heart she thought she still saw an area suspect for a small VSD still but she said the fluid surrounding the heart looked fine. Overall body growth and size on schedule. So that was some good reassurance and I've been feeling so much better about the whole thing this past week. We'll get more info at our next detailed u/s and heart echo in late December so I'm hoping things continue to look better for baby's health.

Lil Momma 1991's picture
Joined: 10/05/09
Posts: 444

So glad that you have some better news. And that baby is growing on track.