There are certain words a pregnant woman does not want to hear during an ultrasound by a high-risk doctor. Words like "very concerning" and "genetic abnormality." But that's what I got yesterday. I went to my appointment, a little anxious about how my recent diagnosis of gestational diabetes is affecting the baby. That wasn't what the doctor was worried about. I seem to be doing fine so far with my glucose, and though I've had an increase in amniotic fluid it's still within the normal range. But when Dr. M. started to take measurements of body parts, she started talking quietly with the ultrasound tech.
At my last ultrasound a little over a month ago, Dr. M. commented on how Baby Girl has a large head and small legs. It was just an observation at the time. Neither is surprising: Ben had a big head in utero, and shortness runs in my family. But when Dr. M. measured the legs again yesterday, she said they had not grown much in the last month. That, in combination with the large head, points to a possible problem.
Dr. M. said it could just be that we'll have a short kid. But there is a significant chance that Baby Girl has a genetic abnormality that is affecting her bones. First on the list of possibilities is dwarfism (achondroplasia). Dr. M. explained that we wouldn't necessarily see it in our family history since so many cases result from spontaneous genetic mutation. She also asked if we had any family history of "soft bones" because that disease could also present itself in this way.
She said that genetic testing can be done to attempt to determine exactly what is going on, but it would be best to wait until after delivery - nothing can be done about it in the meantime anyway. I was already scheduled to go in for regular non-stress tests starting next week; now I'll also be having weekly ultrasounds with Dr. M. so she can continue to monitor Baby Girl's growth and keep an eye on her. Because we don't know what's going on with her, there's a chance she'll have to be delivered early, depending on what all the monitoring shows. But assuming nothing distressing happens, she'll be delivered by c-section on Nov. 22nd. Dr. M. said that attempting to deliver her naturally could be quite damaging if she has skeletal problems.
Thankfully, Mike was at the appointment with me. When he asked Dr. M. if he needed to change his work plans to stay in town for the next 6 weeks until delivery, she put it this way: There's a chance that Baby Girl will have to come out early, and there's a chance she could be very sick when she's born, so the closer to home Mike can be, the better. He is in the process of talking with his squadron leaders right now to see what they can do. So far they have been very supportive. (Mike goes on the road a lot, and fall is a busy season...he was supposed to go on tour in a different part of Europe and then go to the states for training at the end of the month.)
Dr. M. explained that if there is an abnormality, it is only physical and doesn't involve any kind of mental retardation. She emphasized that there is nothing we could have done to prevent this, that these things just happen. She also emphasized that she does not have a definite diagnosis yet but we need to be prepared and watchful. And while a baby with short legs might just be short (or start out that way), the fact the her legs don't appear to have grown in many weeks is a big red flag.
I think I was kind of in shock hearing all this at the appointment. Mike was of sound enough mind to take the rest of the workday off to stay at home. Which was good, because the first thing I did when we got home was to google "dwarfism" - not the best thing to do. I started reading about all the different types, including a fatal one (which our baby does NOT have) and the different physical ailments that come along with that diagnosis. I was not at all reassured by reading about sleep apnea in infants and hearing loss. But I did learn some things, and have come up with questions for when I see Dr. M. next week.
The good news is that much of the ultrasound was fine. Besides the head and leg measurements, the other body parts are normal: spine, heart, kidneys, and most importantly there's no hydrocephaly (fluid on the brain). And when Dr. M. went to scan the face (which was a tough one last time) she got some great shots.
So now we wait. My first non-stress test is on Tuesday, and then I'll have another ultrasound that Friday. And I won't be Googling any more medical terms between now and then.