Pregnancy #2: Anatomy Scan, Gender Reveal, Down Syndrome, Heart Surgery

We had our anatomy scan at 19 weeks 3 days, December 15th. Our midwives wanted us to do it with a specialist because of my history with pre-eclampsia with Emma.

Baby is growing right on track. However the baby does have a calcification on his heart, which is nothing to be concerned about it does not effect the heart at all.

The right kidney also had .1 cm to much fluid in it, which is also normal and normally resolves itself by the 3rd trimester.

However, when you have the calcification and kidney issue together they are considered a soft marker for down syndrome.

This really freaked us out at first (mostly me), because something like this was not even on our radar. The doctor also did not really handle giving us the news very well which did not help matters. We have since switched specialists and are much happier.

We were offered a genetic blood screening that we had declined during the first trimester because genetic issue or not, we would not terminate.

The following week at my 20 week midwife appointment we did go ahead and do the genetic screening (once I had a chance to calm down) and it came back with a 91% chance of down syndrome. However, this is a screening not a diagnosis. The only way to get a diagnosis before birth is to do an amniocentesis. Which we thought about a lot. However, when we saw our new specialist on January 9th she really advised against it. While the risk is low, we wouldn't terminate so it didn't really matter. We wanted to know before birth so we could get therapies lined up, however she had us talk to the genetic counselor (which the first doctor should have sent us too and didn't) and found out that we would have a blood test diagnosis within 48 hours of birth, however we would probably know right away due to different facial features and that is normally enough to get the paperwork for therapy to get started.

At the second appointment with the specialist the right kidney fluid had resolved and the left one now had a little too much. This is actually a good thing because it means they are probably fine. While we don't have an actual diagnosis for down syndrome they want us to do a fetal echo, which I had on January 25th. The info is below.

I also contacted Emma's pediatrician to see how familiar she was with kids with down syndrome and the delays that come with that. She actually informed me that the gentleman doctor in her practice has a daughter with down syndrome and that they have one of the highest patient counts of down syndrome in the area so the baby would be in great hands. This is a huge relief off my shoulders, because I love our pediatrician and did not want to lose her. I feel like God is really just putting everything into place for us and I feel so blessed.

I mentioned that the kidney and heart was a soft marker, which means kids without down syndrome also have these issues. The baby has none of the hard markers, like shortened femur (actually measuring ahead), extra skin on the neck, missing a nose bone (although its really to late to see this well), etc. We will be happy with whatever God blesses us with, but are making sure we are prepared for the possibility of down syndrome.

Fetal Echo
There are two problems: ventricular septal defect (vsd) and coarctation of the aorta. 

The VSD will more than likely just be monitored after birth and then if it doesn't fix itself baby will have surgery at 4 months old. 

The aorta is different. Baby will get an echo within an hour of birth and if the bridge is too small baby will be put on meds and have surgery at 3 to 5 days old. If the bridge is almost normal size then baby will have a 5 day NICU stay as they watch it and if the heart is pumping well baby won't need surgery. If it is not then baby will need surgery. 

We will have another echo on February 14th to check on the aorta as there is a chance it will grow bigger, which would be good. At this appointment we will also get a tour of the NICU and CICU and meet the surgeon. 

These issues are very common in babies with down syndrome so it isn't a huge surprise. 

Best case scenario is a 5 day NICU stay, no surgery and the VSD fixes it's self by 4 months. 

Middle case, 5 day NICU and no surgery but back at 4 months for VSD surgery. 

Worst case, surgery on the aorta within the first week along with VSD surgery and then a minimum 6 week NICU recovery stay. If other issues arrive like GI issues or breathing issues we are looking at months in the NICU. 

We are dealing with a lot of unknowns, as we won't know a lot until the baby is born and has the echo at birth.  

We are asking for prayers that it is the best case scenario and no surgery is needed. 


Some More Information About Down Syndrome

The only way to know 100% and get a genetic diagnosis before birth is to do an amniocentesis. This is where they insert a needle into the placenta and get a sample of the fluid that surrounds the baby. It is relatively low risk with about a 1% chance of miscarriage, however as we would not terminate the pregnancy based on the results we will not be getting this test. This means that we will not know if they baby has down syndrome until it is born. 

We have had months to process this information and do a lot of research. We are still very excited about the baby and are in no way sad by this news. We are still very thankful that God has blessed us with this baby. While we are okay with this diagnosis, please remember that there will be no way to know for sure until the baby is born. However, we are researching and preparing as much as possible in case baby is born with down syndrome. 

Some basic things we have discovered about people with down syndrome:

1. There are some physical appearance differences

2. There are some cognitive disabilities ranging from mild to moderate, but this can't be determined until baby is born and starts to learn things.

3. There is a huge support system out there for families with children who have down syndrome

4. Babies with down syndrome have very low muscle tone. They normally receive speech, physical and occupational therapies from birth. 

5. They can do everything a typical child can do, it just takes them a little longer sometimes to master the skill.

6. Most children with down syndrome can be in a general education classroom, unless their cognitive delay is to severe.

7. The proper way to refer to someone with down syndrome is to say "he/she has down syndrome" not down's or a down's baby.

8. Most people with down syndrome live normal lives, get driver's licenses, jobs and can live on their own and get married. 

9. There can be a lot of health issues, however the baby doesn't have any signs of these so far. 

10. The average life expectancy is now 60 years old compared to 30 years old that was in the 80s. 

11. 1 in 700 births result in a down syndrome diagnosis. This is equal to 6,000 births a year. Only 1% of these are hereditary. 

12. These babies have a higher likely hood of being born prematurely 

This is a link to an article that has a lot more information for you. It is a really good easy read that can answer a lot of questions that you might have. 

Prayer Requests:

1. That I would not get pre-eclampsia again, I am doing a lot of preventative measures but it is still a possibility. We need the smoothest delivery possible not only for the baby's health, but so that I can get to the NICU as soon as possible. 

2. That baby would stay head down and not turn breech again. (so far he is still head down as of the 24 week appointment)

3. That the baby continues to be healthy and kidney issues resolve by 32 weeks. 

4. That baby would not arrive before 37 weeks and would handle delivery well, which means a c-section would not be necessary. 

5. That we would not need an induction

6. That baby will nurse well when cleared to try this in the NICU. This is a concern, because babies with low muscle town have a hard time sucking hard enough to eat and tire easily. It is hard to teach a baby with down syndrome to nurse with no NICU stay, it is very heard and takes months with a NICU stay. 
8. That baby would not need heart surgery at all

9. For Emma, that everything that happens after the baby is born that she won't feel abandoned or act out as we aren't 100% sure where she will go during the first week when he will have surgery. 

Because of the monthly detailed sonogram we have decided to find out the gender. It's a... Just like with Emma, we will not be announcing the name until the baby is born. 

We know this is a lot to process but we tried to provide you with as much information as we could to put your mind at ease. Even if this baby does have down syndrome they will be able to have a very full, happy life and we are still very excited about our new addition. 

Processing
It has been a very stressful pregnancy obviously and it has taken me a while to process everything. I feel like as soon as I get in a good place for one thing, like the down syndrome diagnosis, bam we get hit with something else like the heart issues. What makes it worse is the specialists always say something like "I'm not worried because ______." Because they are the doctors and the specialists we take them at their word and then they are dead wrong. I think that has been the hardest part. I have faith and know that God is not giving us more than we can handle and that he will guide and protect us, however its hard when you go into a fetal echo with the words of the specialist "I don't see anything wrong with the heart" and then the cardiologist says there are two major issues that require surgery or he will die. Bobby didn't go with me to this appointment because the specialist had told us there was nothing to worry about. It was really hard to get that news by myself. I am glad that we go back for a second echo and that he will be with me this time. From here on out any time we have an appointment with a new doctor he will be going with me. 

I am trying to figure out what we are going to do with Emma when he is first born and has surgery as during that time we will need to be at the hospital with him and Emma is not allowed in the NICU unless she is 3. They will make an exception on surgery day so she can meet him, but that is it.

After we get things settled and he is recovering from surgery, she will probably stay in daycare during the day while I'm at the NICU. She loves "school" and this won't disrupt her schedule. Then I will get her at normal time and spend the evening with her until bedtime and then Bobby and I will probably switch nights at the hospital for a little while. We haven't discussed it in detail, but that is what we are leaning toward I think.

It took me about two weeks to really process the down syndrome information and I am sure it will take me at least that long to process the heart surgery news. This point will also be our second appointment with the cardiologist and surgeon and we can get a lot more questions answered that will hopefully put me at ease.

All we can really do until he is born is pray that God will heal his heart and that he won't need surgery.