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Totally bummed after anatomy scan! Booooo!

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20ghanover Posted: 06-18-2010 7:47 PM

Today was my anatomy scan.  It's a boy! wasn't all fun & games.

Everything was looking & measuring fine until she started fishing around for spinal measurements.  She kept fishing and kept fishing even though my bladder was kiling me and I was clearly in pain.  She let me get up to go to the bathroom & she left the room.  I felt like it was bad news at that point.......the doctor called into the room a few times (thankfully my high-risk doctor was the one on call today at ultrasound) and the tech was making excuses why she kept calling.

Then my doctor came in.  Worst feeling ever.

Long story short, our baby has a spinal deformity which has a small chance of being nothing, a medium size chance of being congenital scoliosis which requires spinal surgery after birth, and a fair chance of something much much worse. It's an issue called hemivertebrae where 1 vertebra was half formed and is slightly lower than the something like 4 of 15 cases (in one another, it was 23 of 26!), there are other organs that have issues, mostly heart, urinary tract, or kidneys. So.......we're going to see a geneticist on Wednesday to see if I should get an amnio or to see what the odds are for other multi-organ syndromes and having a fetal echocardiogram on the 30th....and she said she will do ultrasounds every 2-4 weeks to see what's happening over time. totally ruined what should have been a fabulous day today! So please keep us in your prayers over the next 20 weeks! Hopefully nothing is wrong and this is just a any rate, there is nothing I can do right now and worrying isn't going to help. That's what I keep telling myself, at least!

Anyone else have this issue? Or have a bittersweet anatomy scan?!

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hopefulbecca replied on 06-18-2010 8:48 PM

Not me, but a friend.  And warning- the beginning of this story may scare you, but stick with me, it gets better:

A close friend found out at her anatomy scan that her DD had polycystic kidney disease.  Like you, she was given 3 scenarios- it could be mild, and with treatment she;d be fine, it could be moderate, and down the road she would need a kidney transplant, or it could be severe, causing her lungs not to develop properly and she wouldn't survive.  Sadly, it was severe, and her beautiful DD, Mia, died in her Daddy's arms the day after her birth. 

Just last year, while pg with her DS, she went into her anatomy scan terrified that he would have PKD too.  During the u/s, they did find some abnormalities with his kidneys, but it was too difficult to get a good angle.  After an agonizing 2 months of unclear u/s, they finally got a good shot.  He was just fine!  He had minor cysts that could be easily treated after birth, and he is now a healthy 6 month old. 

I'm praying that you will have a similar result, and your DS will be just fine. Hug

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hopefulbecca replied on 06-18-2010 8:48 PM

double post

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ShellyB replied on 06-20-2010 11:40 AM

Sort of..

During my scan the tech didn't say a thing- she even pointed out all the major organs & fingers, legs, knees, etc. She did say my placenta was posterior. It took forever (40 mins) for them to come out & give me pics but I thought it was just because they were really busy that day. ( there were a bunch of ppl complaining about wait times). I got a call from my OB a few days later telling me not to freak out... which DH did NOT tell me ( he forgot to give me the messageIndifferent) anyway, I stayed home from work the next day, and the OBs office called again to tell me there was an " issue" with the baby's cord and the OB had booked me for a fetal echocardiogram in 2 hrs!!

Needless to say, had I had more time to think I would have lost it. Anyway, turns out I have a 2 vessel umblical cord vs a 3 vessel and the OB was concerned not enough blood was getting to baby.  The echo was done by a fetal heart specialist who had 0 concerns but she said they might do a few more tests when baby is born, but nothing to be concerned about that she could see.  I told her the u/s tech had said my placenta was posterior, and she disagreed!! She said its really on the right side... I saw my OB after the test and she also told me the u/s tech/Dr office recommended an amnio Surprise which I was opposed to and my NT scan had already said I had a 1 in 700 chance of DS.

So needless to say, try not to get too overwhelmed by "what ifs" until after you see the geneticist who has a lot more training & experience.




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20ghanover replied on 06-20-2010 5:27 PM

Thanks everyone! If my doctor hadn't been so grave & serious, I don't think I would be so freaked out.  But she's the top high risk OB at the top hospital in I trust her.....I am looking forward to seeing what the geneticist has to say though; hopefully it will calm my nerves a bit!

Thanks again for the words of encouragement.

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mrss replied on 06-20-2010 7:35 PM

I hope you get good results from your echocardiogram and no organs are affected.  I also hope the spinal deformity is very minor and your baby doesn't need surgery.

Michelle (38), DH (50)

DS, 6/10/06, 37w2d (pre-e), 5 lbs. 12 oz.,

DD, 10/4/10, 35w5d (pre-e), 5 lbs. 5 oz.



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wildnina81 replied on 06-21-2010 7:08 AM

I'm so sorry you have to go through this! Hug

I know how you are feeling!! Our anatomy scan should have been a "happy" day since we were anxiously waiting to find out the gender and never in a million years thought anything could be wrong with our baby...

Like you, we were expecting a boy and we so thrilled to find out about it until the doctor kept looking and looking at the heart (they had a large screen TV on the wall so I could see what he was looking at). He didn't say anything for a while until I started getting super-nervous and asked "Is there something wrong with the heart?" He then said that he wasn't perfectly sure but thought that our little boy had a heart abnormality. It felt like somebody pulled the exam table out from under me! He finished the scan and then told us that it was likely our boy had a congenital heart defect called TGA which would require life-saving surgery fairly soon after birth. We were referred to a cardiologist who confirmed the diagnosis.

They also told us that there's a chance that this heart defect is related to chromosomal issues and other defects. They recommended an amnio but we declined because it wouldn't have made a difference, neither for us in continuing the pregnancy nor for his immediate treatment after birth. The doctors agreed to take a blood sample after birth to run a genetics test.

The months until his birth were filled with worries, tears, fear but also hope... To make a long story short: Our son was born last August, he required open-heart-surgery when he was less than three days old and we went through a very tough month in the NICU/ICU. Our DS is now a happy and amazing 10mos old (with no genetic defect, btw) and those worries we faced are starting to fade a little bit. He still needs cardiac check-ups regularly, but everything is looking great and his long-term prognosis is very good!

I am praying that you have a similar positive outcome! If you need to talk, please feel free to PM me!
All the best! Flowers




Me (28) - DH (35)
08/09/2009 Jonah Dominic, born in Brussels (Belgium), 3060gr, 50cm
08/12/2009 Corrective surgery for his congenital heart defect (TGA), less than 3 days old
He's a walking, "talking", nursing miracle boy loving life - and we're so very proud of him!!

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baby4kim replied on 06-22-2010 9:06 AM

You are in my thoughts and prayers and I hope follow up tests show this is very mild. Stay positive. Hug

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TLee replied on 08-06-2010 10:10 AM

I'm so sorry that you're going through this.  I didn't have a good anatomy scan with my daughter either.  At 14 weeks, I tested 1 in 24 for DS.  It freaked me out until I heard that the NT scan has a high false positive result.   My doctor suggested doing an amnio to make sure then.  His only reason was that if it came back positive, then I could terminate if I wanted to.  That isn't an option for DH and I, so we skipped the amnio then.  At 20 wks, I had my anatomy scan.  The results weren't great there either.  Rachel's hip bone was wide, and her arms and legs measured short.  Two markers for DS.  The scan plus the result of the NT scan amplified my risk of Rachel having DS.  My OB HIGHLY recommended an amnio now.  Again, his main reason was that if it was positive, we still have a chance to terminate.  Another reason to have the amnio was to know exactly what we were dealing with and that we would know where on the spectrum of DS Rachel would be.  At 21 weeks, my OB had pretty much pegged her as a DS baby.  We refused the amnio because even though the risk was low, we didn't want to risk a miscarriage as a result of the amnio.  At 25 weeks and 2 days, my water broke.  Rachel was born via emergency c/s and we later discovered that she actually had an extremely rare (only 12 cases in the world) genetic disorder called Paternal UPD 14.  Rachel died 2 days later.  I have learned since that my preterm labor was a separate issue than her condition. Thus, I will be high risk next time for preterm labor.  After getting the final diagnosis from our geneticist, one settling answer came from this:  If we did get an amnio, it wouldn't have detected UPD 14.  The condition is so rare it's not even tested for.  Here is my suggestion: talk to the geneticist.  They may be able to diagnose your child without an amnio based on her physical signs.  If not and they suggest an amnio, think about what you would do with the result of it.  Would it change you prenatal care?  Would it change your plan of delivery and labor?  Would it change your personal preparations for the child?  If the answer is yes, then maybe it is worth the risk of the amnio.  Our answers were no.  I did, however at 21 weeks start to learn as much as possible about having a child with DS, but because my prenatal care was not going to change, I opted out.

Angel born @ 25 weeks, 2 days due to PTL/IC, passed 2 days later due to paternal UPD 14

Angel @ 4 weeks

Chick expecting our Rainbow, EDD 5/3/11


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20ghanover replied on 08-10-2010 9:18 PM

I am so, so sorry for your loss and I really appreciate you taking the time to tell me your story.  I did see a geneticist, who told me that the really bad, multi-organ syndromes that are associated with our spinal defect have not yet been isolated in genetics yet, so an amnio wouldn't tell us anything more.  They did do a DNA test on me & my husband and our chromosomes came back normal.  We decided against an amnio because of what the geneticist told us, and also because every other organ & bone measurement looks good at this point.

As a followup, I just had another ultrasound at 26 weeks and everything remains the same.  We just continue to hope and pray that it is an isolated spinal defect, and not a marker for anything syndromic.

Thanks again to everyone who has responded and shared their own stories.

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