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Looking for some insight (just had 20 week ultrasound)
CEOwife
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Let me give a little background information. I am 26 and DH is 28. We are perfectly healthy and within the average weight limits for our heights. My insurance is AWESOME so we had a 100% covered (with no co-pay) 12 week NT scan. We did blood work that day and about a month or so later. We got excellent results that made us very low risk for trisomy 13, trisomy 18 or down syndrome. We just had our 20 week anatomy scan last night. Here is the information we received.
brain- ventricles are very very very large and push one side a little bit over. There is a potential connection between but they can't tell.
one foot (appeared to be) club
cleft lip and cleft pallet (difficult to tell because of the pressure from the brain.
*Can be extra chromosome (13 or 18 which doesn?t live very long outside the body if it even goes full term?usually only a few hours).
*Sometimes just downs (although, they say it doesn?t have all signs of downs)
**She said 'we don't see this often and it was hard to see everything and the high risk guys know what they are talking about."
Is anyone else in a similar situation or have similar concerns about their LO? Did anyone receive similar news and now have a child with special needs? We are looking for any and all insight as we await our specialist appointment.
brain- ventricles are very very very large and push one side a little bit over. There is a potential connection between but they can't tell.
one foot (appeared to be) club
cleft lip and cleft pallet (difficult to tell because of the pressure from the brain.
*Can be extra chromosome (13 or 18 which doesn?t live very long outside the body if it even goes full term?usually only a few hours).
*Sometimes just downs (although, they say it doesn?t have all signs of downs)
**She said 'we don't see this often and it was hard to see everything and the high risk guys know what they are talking about."
Is anyone else in a similar situation or have similar concerns about their LO? Did anyone receive similar news and now have a child with special needs? We are looking for any and all insight as we await our specialist appointment.
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Re: Looking for some insight (just had 20 week ultrasound)
We had a brain issue come up at a later growth u/s. It turned out not to be an issue(the doctors were unimpressed with it).
The best advice I have is to wait until you talk to the high-risk specialist and STAY OFF GOOGLE. Google is evil when it comes to this kind of stuff.
Thanks for the glimpse of hope! I am working with a girlfriend of mine who works at a local hospital where the top 3 NICU in our state is at. She is trying to get us in to see one of her drs. today.
I second this. My son was born with a birth defect called amniotic band syndrome that has affected his hands and feet, and google was horrible. Google is not your friend. I hope you can meet with a different doctor and get a better idea of what is going on!
What state are you in ?
New Jersey...We are going to Jersey Shore Hospital for the next stages of testing.
Good luck! I wish you all the best
Jerey Shore is a great hospital. If you want another recommendation on an excellent hospital with a top-notch NICU and overall children's specialized care, I delivered at St. Peters and still go there for all of my daughters services. Good luck!
I had a similar situation as you. All the screening test were normal but our 18 week US showed some possible defects in the hands, feet and heart. She was also measuring smaller than normal and continued to do so throughout the pregnancy. We had an amnio and it was completely normal.
DD was born with multiple congenital issues not even seen on US (hearing loss, vision issues, tethered spinal cord) and over the next 2 years she developed heart issues (worse than was seen on US) and a seizure disorder. She is also significantly developmentally delayed- doesn't walk or talk. Her issues now are significantly worse than what we thought we would be dealing with after her initial US and amnio results.
My point is is that USs and an amnio are not adequate assessments of your baby's true issues and cannot determine for you what your baby's life may be like after birth. At this point in your pregnancy, there is no test that will clearly diagnose what your baby has. He or she clearly has some genetic issue as indicated by all the abnormalities they saw on US. Be prepared that the amnio may be totally normal and what you are dealing with is a small deletion, duplication or mutation that may never show up on genetic testing. And US will never show you if your baby is blind, deaf or will be mentally challenged.
I really hope you can get some positive answers today.
Thanks for sharing your story. She is BEAUTIFUL! She is so full of life...look at that smile :-)
As far as our appointment...no good news.We got an hour or so long ultra sound that confirmed what our doctor was seeing. The high risk dr. had to come in because they couldn't get all the measurements they needed so he gave it a go. He got the heart measurements they were looking for.
From the scan, they see the same club right foot, cleft pallet, and cleft lip. As for the brain they see "very severe Hydrocephalus."
He said there is too much pressure on the brain and a TON of fluid. The brain is already being pushed too far.
The doctors said regardless if it is a chromosomal thing or a syndrome, the cause isirrelevant. The damage is already done and will continue to be done. This is not a corrective issue and the baby will not make it full term based on the brain damage already done.
He did advise we continue with the amnio so we can see the chromosome and test for 300 syndromes.
For the amnio- if you ladies ever have to get one in the future...it wasn't that bad. Hell, I even did it twice today. They went in the first time and it was not much worse than giving blood. They couldn't get the fluid right away because the baby moved. The fluid retrieval that typically takes less than a minute they were pushing around for 3-4 (maybe...it felt long). I started getting super hot and clammy and told the doctor if he wasn't done in 30 seconds I was going to vomit. They had to pull the needle because I started getting sick. Initially, they got enough fluid for 1 of the 4 tests they wanted to run. I opted to try again because we want to know all the information we can for both this pregnancy and our risk levels moving forward. The second attempt was much easier. They went in, got the fluid and were done in less than a minute.
DH and I should have the amnio results for trisomy 13, 18, 21 and something else Wednesday. We are meeting with our dr. on Thursday to discuss what happens from here. They are certain this will not be our take home baby. :-(
I just wanted to give you a positive story to think about while you're going through all this....i have a friend of a friend who's baby also has severe hydroencephaly (sp?). She is very religious and refused to abort or have any kid of serious medical interventions. Her baby was born close to full term and unexplainable and miraculously fine. She has excess skin on the side of her head from her head being so large at some point and then shrinking back to normal size, but she will apparently grow into it as she gets older and naturally bigger.
Im not saying this is the the same for you, but I wanted to let you know that unexplainable things happen all the time and you never know where god/fate will take this situation. And I hope you can find some peace as time goes on.
I'm sorry to hear of the bad news. It sounds like the doctors are being very honest with you which is a good thing.
No matter what decision you make for this pregnancy, I hope you find some resolution soon. I remember how difficult it was to be dealing with such horrible news. Please try to not let people sway you one way or another. Only you know what's right for you and your family.
I was just checking back for an update. I want to offer you virtual support because I know short of being able to give your baby the gift of life, nothing I can do will help. I have read a couple of stories where the mothers were told they babies would never make it to term and for whatever reason (personal, religious, state laws on the subject) their babies were born, with defects, but they were treatable to where the child will have an OK quality of life.
Take comfort in knowing you are doing everything you can right now by being very proactive and strong through this.
Hugs.