I am new to this group and just wanted to introduce myself and share our story so far.

This is my first pregnancy and up until a couple of days ago everything about it was going smoothly and as normal.

We had our mid pregnancy ultrasound on Tuesday and I was called almost immediately afterwards by a genetics counselor because they discovered what looked to be an omphalocele on our baby. We were able to get an appointment in SFO for a level two ultrasound the next day where they confirmed the baby has an omphalocele and we opted in for amniocentesis.

This morning we got a call from the Dr and our genetics counselor saying that they are a bit worried because our baby also has a horseshoe kidney (which wouldn’t be a concern if it was a stand alone finding), as well as an abdomen that is measuring 13 days ahead of the rest of the body. She told us that this also is considered on the upper end of “normal” but that because of the other findings, they are worried that this may be pointing to BWS syndrome.

We are very on edge as we wait for another follow up ultrasound on the 31st to check deeper into the abdomen and measure the size of the liver, kidneys, etc. as well as wait for the amnio results to come back.

We are having several tests done for BWS as well, but the likelihood of those tests coming back in before we need to make our decision on whether or not to terminate pregnancy is pretty slim.

We want nothing more than to carry on with the pregnancy and just have a few early stage hiccups to get through but cannot imagine bringing a child into the world that the dr tell us will have intellectual issues, physical issues and health issues as well as an increased risk for childhood cancer. Not for our sake, but for our baby’s sake. Quality of life is very important to us.

So, fingers crossed that these tests come back quick enough, and in our favor so that we have time to make a decision, and hopefully one that will allow us to bring a baby home in January.