After we got the good news that the amnio results were negative for everything, we had a follow-up ultrasound appointment the next day. At that appointment, the doctor told us that the baby was still small, but that she had grown appropriately in the two weeks since the last ultrasound. However, he thought that the brain may have a cyst in the cerebellum (Dandy Walker syndrome) and that the brain's third ventricle was enlarged. He was also concerned that her arms and legs were smaller than her head and abdomen and thought it might be a case of dwarfism. The doctor also noted that the amniotic fluid level looked a little low and the placenta was large and thick. He was concerned that the risks of miscarriage and/or premature labor were still high. But he reiterated several times that he really didn't know what was wrong and he wanted to refer us to one of the best fetal diagnosticians in the state who would be more likely to give us a firm diagnosis.
Given the severity of the brain defect(s) and possible dwarfism, Andrew and I were heartbroken. We couldn't get in to see the fetal diagnostician until Monday, so we spent the weekend trying to keep busy and make some difficult decisions. By Monday, we had prepared ourselves to hear the worst and have the diagnoses confirmed by the Houston specialist. We went there without any hope that things would work out for our baby girl. The fetal ultrasound with the specialist took about three hours and consisted of three separate ultrasounds that the doctor did himself. At the end of all of it, we were told that she was small for her gestational age, but otherwise looked normal. He didn't see anything out of the "normal variant" in the brain and for a multitude of reasons disagreed with the dwarfism diagnosis. He was able to look at the blood flow from the placenta to the baby and it seemed normal, meaning she was getting proper nutrients from the placenta even though it is enlarged. And the amniotic fluid, while slightly low, is within the normal range.
He gave us the diagnosis of generalized growth restriction with an unknown cause. He said that usually you see growth restriction with babies who have chromosomal abnormalities or are infected with a virus/infection. Luckily from the amnio, we know that neither of those are the reason why she's small. The doctor said that sometimes babies are just small, just as some babies are inexplicably large. He also said that it's an encouraging sign that in the time periods between the last three ultrasounds, she has grown the appropriate amount and isn't lagging further behind.
The next step is to have a follow-up ultrasound and fetal MRI in Houston in about two weeks. The MRI will allow us the best look at the anatomy of the brain to definitively rule out any defects. At that point, if all looks good, my OB says we can relax! Woohoo - after this emotional rollercoaster of a month, I am more than ready for some relaxation and happy times! If you've been praying for us, please keep it up because it certainly seems to be working!
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