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When the Ultrasound Reveals More Than Just the Gender

My husband and I talked for several months about whether or not we wanted a third child. We had two healthy boys, 4 and 2 years old at the time, who were both becoming more and more independent. Also, I was not getting any younger having just had my 33rd birthday. I remember during a third child discussion when my husband said, “We shouldn’t push it. We have two healthy children. There is always a chance this next one is not healthy.” 

But, after continued discussion, we decided that expanding our family by one more person was the right decision. We were not “trying to have a girl.”  We were wanting one more sweet child to add to our family.

Fast forward to our first ultrasound at 6 weeks…

We saw a heartbeat!  This was extra exciting, because it’s generally 50/50 you see a heartbeat at such an early ultrasound. Again, we saw the baby at 9 weeks and all appeared well. I toughen through the morning sickness and happily watch my rather large belly for a 9-week pregnancy continue to grow.

We opted to get the chromosomal risk screening at 10 weeks, even though I was not 35, but I felt close enough. This screening screens for specific chromosomal abnormalities, such as Down Syndrome, and can now tell you the gender of the baby. The results came back low risk for all items screened and we found out we were having a baby girl! Oh the grandmas were so excited! 

At 13 weeks, the ultrasound technician was quiet.

I had ultrasounds with my first two children and the technician was never this quiet. She kept trying to “get a better view.” I knew something was not right when she brought in a second ultrasound tech for another opinion. Soon, the techs told us that the baby had fluid behind her neck, which is called a cystic hygroma. We had never heard of such a thing. We needed to speak directly to the OB physician for more details. They sent us out to the waiting room to wait for the OB.

My husband looked up this “cystic hygroma” and his face changed. He just kept saying, “This is bad. This is not good. It’s not good.” From a quick literature search, he found that there was over an 80% chance that our baby would have either a chromosomal condition, like Down Syndrome or Turner’s Syndrome, a structural defect, or a heart defect that could be mild to life threatening. It also put us at a much higher risk for a late miscarriage.

When we were finally called back to discuss the ultrasound with my OB, my heart was pounding. My usually upbeat and positive OB physician was seriously concerned. Although, she was also a little baffled that our chromosomal screening came back low risk.  To her, this meant the problem may more likely be a cardiac defect but the baby was too small to identify the problem yet. During our discussion with the OB, she brought up the possibility of terminating the pregnancy but also pointed out we were beyond the early termination window since I was past 12 weeks. 

My husband and I looked at each other and said, “We wouldn’t terminate!….Wait, would we??” It’s such a strange place to be in. We decided that we could never terminate a pregnancy, but it surprised us that we even hesitated.

You think you have an idea of how you would handle certain situations in life, but then when you are actually in them, you are forced to think deeper than your original assumptions. 

We were referred to maternal fetal medicine (MFM) for a series of ultrasounds and possibly an amniocentesis to continue to look for chromosomal issues.  But we had to wait.  We had to wait for two long weeks for the first ultrasound.

Would the fluid behind her neck grow?  Would the fluid start to go away?  Would the ultrasound reveal a defect or chromosomal issue?

During this waiting period, we were almost constantly looking up information on cystic hygromas. We visited message boards on cystic hygromas. We found promising stories and also sad stories and outcomes. But, being that my husband and I are pharmacists, we wanted to see the numbers. We wanted to see the statistics.  What were we in for? 

We hoped for the best but prepared for the worst.  The statistics were not in our favor.

When I was out and about with my obviously pregnant belly, many strangers would sweetly congratulate me on my pregnancy. Inside, I was worrying, but on the outside I was smiling and saying, “Thank you. We are so excited.”  So many thoughts were floating through our minds: “We should have never tried for a third child.  We have two healthy boys.  Why did we chance it?”  “If the baby does not survive, we will never try for another child.” “THIS is why we never care about the gender of our child.”

My husband often helps me see things from a different viewpoint. One night during this slow two week waiting period, he talked about how siblings sometimes develop a passion for a condition that another sibling may have. One of our boys may want to go into research or advocate for the condition our daughter has.  This potential weight on our family could help our boys learn more about helping others and understanding different types of people. This thought gave me a bit of comfort while we waited.

I had never been so nervous for a doctor’s appointment in my life. 

At 15 weeks, we went to the maternal fetal medicine (MFM) specialist for a detailed ultrasound. At the time, the cystic hygroma had not grown and maybe even shrunk slightly. This was a good sign! No abnormalities were found. Not one. The specialist explained to us that she generally has one cystic hygroma family a year where they do not find any issues with the baby.  She hoped we would be that one family for her.

We did not even opt for an amniocentesis, since there are risks involved with a procedure like that. But we needed more ultrasounds to determine a possible issue. The baby was still too small to rule out heart defects. Again, we had to wait.  But this time, we were more hopeful during the three week wait. 

We went back to MFM at 18 weeks to check primarily for heart defects. The cystic hygroma had resolved and all four heart chambers were present and appeared healthy. We felt like we had won the lottery! We still went back for the fetal echo at 22 weeks with the specialist and everything looked completely normal via ultrasound. The MFM physician released us saying that we will have a healthy baby.

I was elated but still cautious. Had they missed something?

I asked the specialist if there’s a good possibility that we will find an issue with our girl later on in life. She calmly and sweetly explained that everyone has that possibility, whether or not they see a cystic hygroma.  Everyone has a 5% chance of finding an issue in their child.  More statistics, but much better numbers!

The rest of the pregnancy was much calmer, but it felt even longer than usual. It also took me longer to connect with the stranger in my belly than it had the first two pregnancies. Every day of the pregnancy I still thought about the possibility of my baby having a defect that was missed. I looked forward to finally meeting her and seeing her.

And the day she was born, I felt relief. She was healthy. She was here. It was magical. It was Christmas Eve.

Many nights when my baby girl falls asleep on me before I lay her down, I put my hand on her chest to feel her sweet little heart beat. The heart that had a possibility of not working properly or even at all. That heart is beating and pumping and providing to my sweet girl. I breathe a sigh of relief every time I feel her heart beat. Oh, I am so incredibly grateful. 

There is not a day that goes by that I don’t think about the families that go through so much more than what we went through. 

Our little girl is 7 months old now, and I think about the pregnancy journey I had with her every single day. The experience has changed my perspective forever. It reminds me that the long and frustrating days with my three kids could be very different. I appreciate our healthy children more than ever. This experience also confirms our beliefs that the gender of our babies does not matter. Yes, kids have tantrums and that’s annoying. Yes, kids can make you feel exhausted. But those are just minor issues in life with children. So, hug your babies a little tighter and give them extra kisses…even on days they are being little crazy people. 

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