thanatophoric dwarfism? help please

[theresamarie]

I just went to see my OB and I have to go tuesday to the high risk fetal dev. clinic in London ON for a detailed US. My GP that I saw monday only told me that the report said "highly suspicious of thanatophoric dwarfism". My OB today read it to me and here is what it says:
~head circ. normal
~BPD normal
~abdominal circ. normal
~spine normal
~nose and lips normal
~no frontal bossing
~femoral length 1.5 cm (4 weeks behind) also states that these are +/- 2 weeks
~humerus 1.5 cm (3 weeks behind) also states that these are +/- 2 weeks
~hypoplastic ribs
~appears to be bell shaped thorax
my OB also said that the clinic I had the US done at has been known to make mistakes in the past (we went there only beacuse it's the only clinic that will tell you the sex and we didn't know about the reputation). She also said that after they do the report they throw away all pics which is so not right. She basically said to relax, that it could be errenous. My husband is 5'10 (but has short legs) so my OB said he might just have short legs and they still could catch up a bit. Do you know how far growth needs to be behind for them to say without a doubt that there's a problem? do you think that maybe his short ribs may not indicate a real problem? Im just trying to figure out the chances that maybe things will be okay...My OB said to still have hope that my babe may still be okay...so scared for my little man and I know I can't do much but wait.

[Babyiish]

How I wish we didn't have to do ultrasounds
Unless it was necessary
We would be less worry
No stress at all
I have to do another ultrasound as well
I hope everything goes well
Best wishes

[sarahbeantree]

I was researching Lethal Dwarfism today and stumbled upon your site.  I was pregnant with a Lethal Dwarf.  If you don't mind me asking, what was the outcome for you?  I have not been able to find anyone who has gone through the same thing as me.

Thank you,
Sarah

[theresamarie]

I actually just spoke with my cousin who works in the high risk fetal development center we're going to on tuesday, and she told me a coupe things to reassure me. She said that on older machines (such as was used) it's really hard to get an accurate reading especially for the ribs. And she said that lots of babies limbs are behind schedule by several weeks and they are born perfectly healthy. I feel alot better, and though I'm still very very worried, I Do have some hope that my little babe will be okay.

[theresamarie]

thank you so much for this response...it makes me feel a lot better :) Im glad everything worked out well for you mama! I hope my prognosis is the same

[cupcake1985]

I had to go see a specialist a couple weeks ago because my babys head and belly were measuring bigger and her legs were measuring 3wks behind..when I went to see the specialist a couple weeks later everything caught up.  They told me that the baby was probably moving a lot so they couldn't get an accurate measurement. But I was worried till I had that US with the specialist. So try to stay positive until you see the specialist cause US can be inaccurate.

[theresamarie]

my OB IS worried, just based on the report from the u.s. technician, but she can't look herself because of them throwing the pics out.  She just said that it is POSSIBLE to be wrong, and the machines not being best quality, and the center itself having had QA issues.  My husbands friend was told that their baby was going to have DS and clubfoot (from that clinic) and he was just big. Im praying so hard that they were wrong and that my baby will be okay.

[tiredbuthappy]

my friend was told at 36 weeks that her baby was going to a dwarf based on u/s measurements. Like you, the head and abdomen measured normal- it was the limbs that measured at least 4 weeks behind. They told her there was no chance they were wrong and that she could pray for a miracle. Her baby was born prefectly normal and healthy by c-section. they had all the specialists on hand expecting major problems after birth. She is now a petite but normal, healthy and bright toddler. Both of her parents are on the petite side (but not abnormally so).
US measurements can be inaccurate, so if your OB isn't worried, I wouldn't stress to much yet.

[nickieb85]

I am sorry that you are going through this. I think that your doctor is right though, especially if the clinic you went to has a terrible reputation. I would say try to relax as much as possible until you have your next ultrasound and then see what happens. I know how nerve wracking a possible fatal problem can be but sometimes the ultrasounds can definitely be off.

[theresamarie]

I forgot to mention what thanatophoric dwarfism is...it is a lethal form or dwarfism, where the babe usually dies within minutes of birth.