Pregnancy update

I am currently just about 23 weeks pregnant with our third daughter, who has also been diagnosed with diastrophic dysplasia. I am far more relaxed this time around, but there have been moments of freaking out as well. One of the things I assumed was that this pregnancy (if it was a baby with DD) would be very similar to the last, that the ultrasounds would show similar issues but we would know not to be concerned since we'd already been there. 

Even from 14 weeks when we first had early warning signs though, this pregnancy has been very different. 

With Maddy, our first "warning sign" was the nuchal translucency scan. For a "normal" baby, the nuchal fold should measure around 2mm. Maddy's, however was 4.5mm. I was expecting for this baby to be one or the other, however this baby had a nuchal fold of nearly 10mm - double even what Maddy's was! 

At that stage, this was of great concern to me. While it could be due to the dwarfism, we also have the same risks of other genetic diseases as other couples. What if this child had a different genetic disease? How would we cope with that? And since we have the same risk of, for example, having a child with Down syndrome, that potential child with Down syndrome has a 25% chance of having Down syndrome AND dwarfism. Prior to this pregnancy, that thought hadn't even occurred to me. 

It was recommended that we have the NIFTY test - a blood test that can very accurately detect many chromosomal abnormalities such as Down syndrome. The test has no risk to the baby so we agreed to do it, just for our own information. Thankfully, our test was negative meaning that the chromosomes (at least the ones they test for) are all "normal".

After we came back from the US, we had the 20 week scan and in this scan, we found that the baby has a cystic hygroma (basically, a fluid filled sac at the back of the baby's neck). This is often linked to high nuchal fold measurements, and it is something that is generally associated with chromosomal abnormalities. It's also something that was never noticed in my pregnancy with Maddy. Once again, our obgyn referred us to a prenatal diagnostic specialist for further tests. 

Basically, it is known that this baby does have diastrophic dysplasia. So many of her skeletal measurements are almost identical to Maddy's at the same stage. There is still a very slim possibility that this baby has two genetic diseases - but the NIFTY test has ruled out the most common ones. Most likely, the cystic hygroma is caused by diastrophic dysplasia.

I did ask my wonderful diastrophic network whether they had heard of this issue being associated with DD. One mother with a gorgeous baby who reminds me so much of Maddy said that they had a similar experience. In their case, the hygroma was still significant in size at 32 weeks, but it had disappeared by the time the baby was born (which is not uncommon, hygromas often resolve naturally). 

So we are hoping and praying that our experience is similar to that - that this issue will resolve itself naturally, and that it is only a symptom of dwarfism and nothing more. We will have to keep an eye on it throughout the pregnancy and see what happens.

Our next scan will be next week (at 24 weeks) and we will see how things go from there. I still am only seeing the private doctors who I saw in my pregnancy with Maddy and they are wonderful and sensitive. I'm a bit apprehensive about registering at the hospital where I need to deliver at because I know the doctors there generally are not. I am leaving it as late as possible before I register because I don't want or need the stress! 

That said, whenever I think about the hospital, the delivery, and in particular NICU, I get very stressed... but more on that another time...