Short Version:

At 26w3d, Level 2 ultrasound with high risk specialist showed presence of high amniotic fluid (polyhydramnios) and no stomach. Also a bright spot on the heart called EIF. Doctor suspecting tracheoesophogeal fistula, TEF, and possibly chromosomal issues. Looking for others with a similar story to talk to about their experiences.

Long Story:

After seeing a bright spot in the baby's heart at 19 weeks at my OB office, we were told it's a soft marker for down syndrome and we were referred to a high risk specialist for a level 2 ultrasound and consultation. 

We saw the specialist and had a level 2 ultrasound at 23 weeks. She saw the spot, called an EIF (Echogenic intracardiac focus) and suggested I get bloodwork to rule out chromosomal issues that can be associated with EIF, but assured us it is usually nothing, and could even be part of the heart muscle. She also mentioned the stomach looked small, but that was most likely due to baby recently expelling the contents. She also wasn't able to get a few shots due to baby's position, so we scheduled another appt in 3 weeks to address all those issues.

At 24 weeks I got the blood work done, and to my relief, it came back normal. Almost wondered why I had to see the specialist again, but figured it would just be more reassurance everything was fine. Boy was I wrong.

At 26 weeks (yesterday) I went in for my follow up appointment with the high risk specialist and had another level 2 ultrasound. The doctor informed me the baby had no stomach, and my amniotic fluid was high, measuring at 27cm when it should be 5-24 cm. She began to talk about tracheoesophogeal fistula (TEF) and the way I understood it, that there was a blockage preventing fluids from making it's way from the esophagus to the stomach. Basically a broken pipe. That would explain the excess amniotic fluid and baby's empty stomach. She told me if my fluids get too high, they would have to do an amnio to remove some of the fluids. She recommended I talk to a genetic counselor, due to the spot on the heart and these issues, it made chromosomal issues a possible culprit again, despite the blood work being okay. The blood work is not 100% accurate. She also wants me to see a pediatric cardiologist to take a better look at the baby's heart, and that she wanted to see me in 4 weeks, and will continue to see me throughout the pregnancy. The only good news we received was that the baby was doing well otherwise. She is in the 50th percentile and weighs around 2lbs2oz. However even that news was bittersweet, because that's only due to the fact she is getting nutrients via the umbilical cord.

My head was spinning at this point. Information overload, scary info. To think you are out of the woods with the heart scare, then find out it is still a concern, on top of even larger concerns regarding the stomach and trachea/esophagus, it was just too much to process and came at such an unexpected shock. 

I cried a lot that night. I'm not usually one to cry about things, but there was no stopping that train. It felt good to let it out. Quite warranted too, I think. After that, the next step for me was researching. Google is a scary place, folks. However, I found comfort in reading more about TEF and high amniotic fluid. My husband wasn't able to make the appointment, so he has a phone Q+A with the doctor scheduled, and I'm calling my OB doc today to get her input.  We both just need more information, so we can start planning. If we have a plan, we can deal with things easier. 

So my question for you all is, has anyone experienced anything like this? Please share your story if you have! Also feel free to ask me anything.