The day after our 20-week sonogram, our OB received the radiologist's report and called me to discuss. She recommended a perinatologist and the perinatologist's office quickly put us on the schedule. Our appointment was about 12 days after the first sonogram so the baby had a couple weeks to develop some more, which was good because we felt better knowing she would grow a little more and hopefully give the perinatologist's office a better look at her arms. But, that also meant 12 days of waiting and wondering. The radiologist's report said "consider radial ray, Holt Oram, or Trisomy 18". We did a little research on these, but tried to stay off the internet - no need to Dr. Google ourselves into a frenzy! Just seeing Trisomy 18 written down was frightening. But, then based on the results of the sonogram it seemed she did not have any of the other symptoms of any of these syndromes. Her face, her brain, her heart, her kidneys, her nose, her lips, everything else was fine. But then again, that was one sonogram. So who knew?
A friend of mine says we all change in one big way when we have a baby. We become more paranoid about something that previously did not bother us, or change the way we deal with certain situations. Mine is definitely negative thinking. I always go for the worst in any situation. If my husband and I meet at a place and one of us takes the kids home, I always find myself thinking the entire ride that the car with the kids and one spouse will crash, leaving the remaining spouse with nothing. When the kids want to go to the pool, I am hyper aware they could drown and think about what I would do and how I would react. It is not an obsessive thing where I hold my breath and stress out, but rather, just my natural reaction to figure out what the worst thing that could happen is. This situation is no different. By the time the 12 days were up, I had imagined almost every horrible scenario down to the baby's funeral.
The perinatologist did another complete sonogram, took all new measurements, and then stated he disagreed with everything on the radiologist's report and believes our daughter has isolated phocomelia. Phocomelia is a catch-all term for limb deformity. And isolated is in reference to the fact that it only appears to affect her arms and does not appear to be associated with any other syndrome. This was great to hear! Two sonograms showing the same thing - a problem with her arms, yes, but no issues with her brain, her heart, her kidneys, or her face (which would likely be indicative of a more serious syndrome like Trisomy 18). We walked out feeling much better about everything. Two appointments show the best case scenario!!!
Just to be safe, we have to see a genetics doctor at Children's Hospital and have a fetal echocardiogram to check her heart.Thankfully we live near the nation's captial and can go to such a fantastic plan for testing without having to worry about long-distance travel.
Thanks for listening!