Seeing the Cleft for Ourselves and Fetal Echo

We’ve had a lot of appointments the past few weeks so it’s been pretty busy lately. I’m going to break up the appointments/consults into different blog posts - it’s a bit much for one post!

At our 25 week appt with the high-risk ob, they performed the monthly ultrasound plus fetal echocardiogram.  Although during the anatomy scan, they were able to look closely at the heart, this test provides an even more thorough look at the different chambers of the heart, blood flow, etc.

This is a shot of Baby's face. His head is turned to the side in this view.

During the ultrasound I asked the technician to point out our baby’s cleft to us.  Up until this point, we were only able to get profile shots and it is not easy for us to understand where the cleft is from that view.  

At the previous two appointments they had been fairly certain that baby will have a bilateral cleft lip.  Once the ultrasound tech, pointed it out to us, it was very clear to see that it indeed appears to be bilateral.  She even was able to get a view of the baby from the top of his head and could see through to the palate. There are two very obvious dark spaces where there are gaps, so we are expecting an impacted palate too. We also saw the baby on 3D, but their opinion was that it is easier at this point to diagnose the cleft from the 2D actually.

Then, two pediatric cardiologists came in to perform the fetal echocardiogram.  I suppose we are a little more on edge after having the diagnosis, so two doctors coming in was a bit of a red flag. As it turns out, I think one of them was learning from the other how to use this particular model of the ultrasound machine.

Baby stayed still for them to get all their images and his heart checked out wonderfully (as far as they could tell). They want to see him soon after birth. Not all problems can be detected through the fetal echo.  We should request that they check him before leaving the hospital.

Next time, I’ll provide an update about our latest consults with cleft teams in the area.

A Seemingly Routine Ultrasound

Around 12 weeks, we went to an appointment for our first trimester screening.   This is an optional test that involves a blood test and a high resolution ultrasound to determine your risk for some chromosomal abnormalities (such as Down syndrome). We had done the screening during our first pregnancy and honestly weren’t too concerned going into the appointment. Instead, we were excited to get to see our baby moving for the first time.

Well, Baby put on quite a show and was bouncing around all over the place! We were told to get ready for a very active baby. (Umm, we already have one of those!)  It did take the ultrasound tech some extra time to complete all of her scans.  Baby was either moving too much or wouldn’t shift for her to get the images she needed.  But the measurements they took to evaluate our risks looked good.  

The pregnancy was starting to feel real.  Up until that point, I wasn’t showing very much and being pregnant with a toddler means you are constantly on-the-go. No time to really slow down and think about how life will change.  Its not quite the same experience as the first time around where there was tons of anticipation and planning for a new baby.

When the ultrasound tech was done with the scans, she then sent in the doctor, as we were used to last time. I figured she’d take a quick look, say everything is fine and we would be on our way. Instead, the doctor tells us, “We aren’t sure, but it looks like your baby may have a cleft lip and palate.” It is hard to put into words how we felt upon hearing this news.  It was something we never anticipated, so we were certainly shocked to hear that this could be true.  The uncertainty of everything was terrifying. Here we are only 12 weeks in finding out that our baby may have a birth defect.  We just wanted our baby to be healthy and well.

We went home overwhelmed with this possibility, knowing that in 4 weeks when the baby had grown more, they could get a clearer picture of the face and have a more definitive answer. So we waited a grueling 4 weeks. In the meantime, I researched a ton - if this was going to be our future, I wanted to know what to expect.

When we returned in 4 weeks, it was confirmed by the ultrasound tech that our baby will have a cleft lip and most likely palate. I felt that I had fully prepared myself to accept this news, but of course we were hoping to hear otherwise.  We then met with the perinatologist, who was incredibly compassionate.  He reassured us that he would help us receive the best care for our baby.  We were also very excited to learn at this appointment that we are expecting another BOY!

So what now? We have been seeing our high-risk specialist every 4 weeks for regular ultrasounds. Last time, we had the anatomy scan during which they thoroughly checked the heart and everything appears to be functioning normally. We will continue to have these appointments until I deliver.  With a cleft lip and palate, there is a chance that it could be a sign of other syndromes, so we have done a bunch of noninvasive blood tests and will continue to have ultrasounds to monitor the baby.  To this point, all indications are that the cleft is isolated and we are trying to stay positive regarding other conditions.

We have been learning about the best cleft repair teams in the area.  Luckily, the DC area is home to several top notch groups: Johns Hopkins, Children’s National, and Inova Fairfax.  We had a consult with a reconstructive surgeon at Johns Hopkins about a week ago.  It was a very positive experience - speaking with him and the program coordinator was very reassuring.  We will be meeting with other teams in the coming weeks and hopefully make a decision soon afterward.

Here's one of the latest sonograms of our little one. We were lucky to catch him mid-yawn!