During our 20-week ultrasound, we were referred to a high-risk OB/GYN. This doctor did an in-depth look and said he believed the baby had a chromosomal defect, either 18 or 13.
He stated seeing a large cyst on the brain, a hole in the heart, a severe amount of fluid on the kidney, a rocker foot and an indented chin.
We prepared for the worst, but now that the amniosenteses results are back and do not indicate a chromosomal issue, we're not sure what this means.
The doctor is sending us for more tests — fetal MRI being the first.
Does our baby have a chance at survival? The stories I've been reading show a baby overcoming any one of these symptoms, but not all. The doctor is saying more information is needed, but worst case scenario is death, followed by severe mental retardation and death not long after birth. He said the combination of severe symptoms are all very problematic.
Big hugs mama. I am so sorry you have to go through this. I don't have a lot of experience with these prenatal tests. My dd showed no signs of having issues in utero, then had a stoke at birth. My best advice is take one day at a time. See other specialists, see what the tests show. I have read of cysts disappearing weeks later, etc. See what the next few weeks tell you. Then follow your heart. When my dd was born and they read her MRI they told us she would likely never walk, talk or know we were in the room. She is a vibrant 2 year old who walks and talks. She's had her challenges, but she has overcome so so much. Best of luck!