Met with the maternal fetal medicine ob today

Following my thread last week about their being a thicker nuchal fold, we had our first appointment with the maternal fetal medicine ob today. And I was pleasantly surprised! I was expecting to go in and be belittled for not having the 12 week testing, being pushed towards the amnio and booked in for a c-section today. But she was really nice, even recommended that we don't have the amnio if we're not going to terminate and was all pro natural birth, and I may still be in with a chance of birth centre.



The dr is leaning towards a diagnosis of down syndrom or turners syndrome as the two main ones, just because they are the most common. Our risk for Down syndrome is 1 in 57, didn't get a figure for Turners. She took some bloods to rule out an infection and we are having a repeat scan next week to have another look at the nuchal fold. There is apparently something called a cystic hydromey (sp?) or something in the fold, which is some pouches of fluid. She doesn't seem too concerned about these causing issues other than being a marker for a possible chromosomal issue. If the level of fluid has increased then it could be something else, although they are extremely rare. She said the fact that we have no other markers and the rest of bub's development looks good is good, although it doesn't rule out a diagnosis, it means that at the moment there isn't other health issues to be concerned with, although they can't rule out heart problems.

So at the moment, we've decided to wait it out. We'll have the repeat scan next week and then we'll wait until birth to test. At that point, they will use the cord blood so no risk to baby. Whilst its not my ideal situation to be discussing the chance that our child will have DS or something, it is what it is and at the moment I'm feeling ok with it. I'm sure there will be tears at times, and we'll deal with them when they come. And whilst our risk is quite high, it can go either way...we could be the 1 or we could be the other 56. Who knows.

Not really sure about the reason for this whole post except to get it all out!

Big hugs my lady. I'm so proud of you, you are being so brave! Always there for you but you already know that xx

Sounds like the Dr was lovely and it's good that there weren't any other markers there. Hopefully everything will be ok.

There was a link a few months ago to a blog from New York (?) where the mum gave birth to a baby girl who had DS (they didn't know this in advance). OMG - it's a real tear jerker of a read going from disbelief and the mother's initial feelings of wanting to run away to the next day when her older girl came in to meet her little sister. She said that her eldest daughter taught her that day what unconditional love meant, as she was just so proud of her little baby sister. She's got some great photos of her little girl and when she's a bit older. I emailed the link to some friends, so can find it again easily, if you were interested, I can PM you the details, as it's a great read.

Anyway, 1:57 is better than what I was thinking last week when I read your initial post. I was 1:24 and didn't for a second believe that there was anything wrong with our baby. I really hope that you get some more reassurance with your next scan. Best of luck

Good luck with everything xxx

Hey hun, my DD had a cystic hygroma. It was diagnosed through ultrasound. We had the 12 week scan and went through eight weeks of hell before we were cleared. After ruling out all chromosomal and organ abnormalities, they decided it was most likely a cystic hygroma causing the thickened fold.

We were told that it would either resolve itself in utero or that she may need a small surgical procedure at birth. It resolved in utero and she was born healthy and perfect and is now a whirlwind of a preschooler.

Hoping for the same result for you xx

ETA - our risk for DS was 1:6 we had a one in ten chance that DD would be born at term, healthy and alive. 9 in ten that she wouldn't. We faced horrible odds... And she is fine

I don't know if others stories are helpful for you, but my good friend's DD has a nuchal fold reading that was off the charts ad some terrible odds of complications etc. She also didn't want to consider a termination and so turned down the amnio. She told herself that if she couldn't handle the anxiety of not knowing "what if" then she would consider an amnio at 34 weeks so at least if there were complications the baby would most likely be fine if it had to be born. In the end she was happy to wait and see and sure enough her DD is now a bright, healthy 2 year old. She does have a chunky neck though, but that is just her build!

Really am wishing you all the best wishes in the world and pray things are OK. Much love xx