What is CDH?
Congenital diaphragmatic hernia (CDH) occurs in an unborn baby around 6-8 weeks gestation when there is a hole in or incomplete formation of the diaphragm (the muscle under the lungs that assists breathing and separates the upper chest and lower abdominal organs). This hole allows the abdominal organs such as the stomach, intestines, liver, and sometimes the spleen to move into the chest and prevents the lungs from developing normally, and shifts the heart to the right side of the chest. This defect can occur on the left, right, or both sides but more commonly occurs on the left (LCDH). The defect is usually seen at the routine 20 weeks ultrasound and occurs in about every 1 in 3600 babies.
They told me nothing has changed and that the stomach was still in the same position and referred us to a Maternal Fetal Medicine doctor. During this ultrasound, the tech checked and measured everything like they would at an anatomy scan and mentioned that the stomach was indeed up in the chest and above the diaphragm. My heart sank a little, but I remained calm and waited for the doctor to come in and share his opinion and thoughts. After waiting a few minutes for the doctor to review the images he stepped into the room to do his own imaging and talk to us about what he can see. At that time, he explained that the stomach is all the way up into the chest, he also mentioned he thinks there are small intestines up into the chest and went back and forth on whether the part of the liver is above the diaphragm or not. He then proceeded to look at the heart and let us know that Juniper's heart has been pushed to the right side but otherwise from what he can see seems healthy. He did mention that he is not a cardiologist, so he cannot confirm that, and we would need an echocardiogram to check her heart health and have a clearer answer regarding heart health. (An echocardiogram is just like an ultrasound but only focuses on the heart of the baby and is done by an expert cardiologist.)
We are scheduled to have the echo done on 12/20/21 and an
ultrasound on 12/21/22 at Primary Children's Hospital. It sounds like we will
have to go back and forth through most of my 3rd trimester to have tests and
monitoring and come up with predictions on the outcome of JJ's treatment, NICU
stay time, and quality of life.
12/20/22
The echocardiogram we had with the doctor went well. All of JJ’s structures look good and blood is flowing the way it should. Her heart is pushed over to the right side and is far to the right. This means that has very little space in the chest the only part they couldn’t see well enough was the aortic arch which is common to not get a great picture of since this structure is stretched and follows a different path than when a heart is in the correct position. JJ also kept her arms and hands close to her chest during this scan which made it difficult to see. Ultrasound that will give us a better picture of the severity of JJ’s defect is tomorrow.
What can be done to treat babies with CDH?
Babies with CDH will require surgery. During surgery, an incision will
be made into the upper abdomen and the organs will be pulled back down into the
correct position. The hole or the incomplete formations will be either stitched
together or sealed using a mesh patch of some kind to prevent re-herniation.
Babies with CDH will also need to have assistance to breathe with gentle ventilation.
If necessary, they will be put on ECMO. ECMO is something that we want to avoid
if possible as it’s a type of life support that keeps the heart and lungs
functioning. When babies are put on ECMO they do become at higher risk for
other challenges throughout their life. Babies with CDH will require long-term
monitoring and are likely to stay in the NICU for an extended period.
What does JJ’s scan look like at this stage?
12/21/22
Today we had an ultrasound scan that confirmed a left congenital diaphragmatic hernia with stomach up, bowel up, and liver up. Since the liver is up this is putting more pressure on her heart and lungs. This will not allow JJ’s lungs to develop fully in utero. Right now, JJ is happy as can be since she doesn’t need her lungs until after birth. Once she is born and the umbilical cord is cut, this is when she will start to have problems breathing and will require some ventilation and medications to help her.
JJ’s condition as of right now is considered moderate to severe. When the liver is up in the chest this puts a lot more pressure on both the heart and lungs which will make her lungs even smaller at birth. When the liver is up it makes the condition worse and our outcomes worse and puts her at higher risk of being put on ECMO (life support). Everything else seen on the ultrasound looks normal. Brain anatomy, limbs, bladder, kidneys, and other organs look normal.
JJ’s weight as of today is 1lb 11oz which puts her right at the 10th percentile, meaning she is a little bit smaller which is common in babies with CDH. Less than the 10th percentile is classified as fetal growth restriction and JJ is right at that cusp right now. JJ’s growth will be tracked over time but is doing well so far. I will have an ultrasound every four weeks until birth to track her growth, monitor any changes in what organs are up or down, and measure the fluid around JJ. At about 32 weeks we will start something called non-stress tests which is where JJ will be put on a monitor, and they will listen to her heart rate to give reassurance that she is doing well.
The goal is to get JJ all the way to term so that she has time to develop as much as possible before coming into the world as this will increase her chances to survive this. Her survival will also depend on how much reserved functional lung there is. Primarily she will have to rely on the right lung since this one will be in better shape than the left lung. During the ultrasound, they did measure the lung-to-head (LHR) ratio where they measure the volume of the lung tissue and compare it to the measurement of the baby’s head. JJ’s measurement today is 0.46. When that number is less than 1 this also puts JJ at a higher risk of needing ECMO and puts her in the higher risk category of having cardiovascular compromise and increases her risk of passing away.
This number can change throughout pregnancy, but they will still use the worst-case number for her prognosis so they can prepare and plan for that. There’s another measurement they use called O/E measurement and JJs is 18% today which tells us the same thing since it’s below 25%. This means they are anticipating JJ to be very sick after birth and will need a lot of support. We are anticipating a long-term NICU stay of 3-4 months but can potentially be longer. After JJ is born they will immediately assess her breathing and place her on a breathing tube and evaluate her to see if she needs ECMO right away or if she's stable enough to just be on the breathing tube. They will make sure she is first stable to do the surgery and this is usually within the first few days of being born.
As you can imagine, we got a ton of information today so I will split these first updates into parts. In the next post, I will talk more about birth and the NICU and what has been explained to me as far as what to anticipate happening.
(1) Tiny Hero (n.d.). What is CDH? Www.Tinyhero.org. https://www.tinyhero.org/what-is-cdh
