Okay, I said I was not going to do much research on spinal abnormalities because it sounds like if there is one, there is no real hope. Instead, I planned on just praying the spinal issue resolves (not sure that there is any real chance of that). Of course, I managed to avoid doing any research for like 24 hours. Then I went looking for my sliver of hope.
It’s not much, but here goes. Ossification of the spine allegedly starts at 10-11 weeks:
If that’s true, how can we diagnose a spinal issue at 11w5d?
(Although I read that female fetuses have earlier spinal ossification than males:http://www.ncbi.nlm.nih.gov/pubmed/15936488)
This says the same thing—ossification of the spine starts at 10 weeks and spreads through weeks 12-13:
Okay, the doctor said as much, which is why he wanted us to come back in a week, although he did not seem to think that enough would change in the 2 days from our 11w5d ultrasound appointment.
I was also worried about spina bifida (since we are at an increased risk for neural tube defects), but it sounds like it’s hard to diagnose spina bifida before 14-16 weeks (at least by looking at the spine):
Okay, so assuming the doctor is right and we do have a spinal ossification issue, what could it be? My research has not turned anything really common up, so this seems rather rare. (Notice a lot of my links are to “rarediseases.org”.)
Caudal regression syndrome
Very bad. Abnormal development of the lower spine. Often combined with lots of other bad stuff. (Although nothing specifically mentioned omphalocele.) Rare (1-5/100,000 live births). Cause unknown, although it is common in diabetic mothers and there is a theory that it could be in part due to insufficient folic acid. (Of course I’ve been on close to 5000mg folic acid—hardly insufficient.) Can be diagnosed in utero as early as 11 weeks. Associated abnormalities (e.g. gastrointestinal) are common.
Whelp, this does not make me feel any better. This suggests that the absence of the lower part of the spine (which is what we have) can be diagnosed pretty early. BUT it also notes that a shorter crown to rump length is an indicator, as is a large nuchal translucency, neither of which we have.
Achondrogenesis
Also very bad. Pretty rare (1/40,0000-60,000). Most fetuses die in utero or shortly after birth. Diagnosed as early as 12-15 weeks based on abnormal limb development (short limbs).
Our doctor didn’t mention short limbs, but I’ll be sure to ask at the next appointment.
Osteogenesis imperfecta
Brittle bones, but not necessarily fatal (depending on the type). 1/20,000-60,000. Diagnosis in utero based on short limbs and defective bone mineralization as early as 10-14 weeks.
Osteochondrodysplasia
Group of over 350 bone disorders, includes osteogenesis imperfecta.
Hypophosphatasia
Very bad. Stillbirth/death after birth common. Diagnosis based on micromelia (deformed limbs). Probably indistinguishable on ultrasound with achondrogenesis or osteogenesis imperfecta. There are several types, but the really bad one includes abnormal bone ossification. (That version is 1/100,000.) It’s associated with an abnormal NT measurement. Can be diagnosed as early as 12 weeks.
No one said anything about short limbs, but the abnormal ossification is a problem. Of course our NT was normal.
Pentalogy of Cantrell
For complete pentalogy of Cantrell, 5 defects must be present: breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall (including omphalocele), and the heart. If only some are present it is incomplete pentalogy of Cantrell. It can also include spinal issues like spina bifida. Extremely rare (5.5/1,000,000). Can be diagnosed as early as 10 weeks based on the omphalocele and heart outside of the chest. Seems like most people with this diagnosis terminate.
This seems so rare, it’s hard to believe it’s what we have. (Famous last words?) Also, there was no indication her heart was outside of her chest (ectopia cordis).
Diastematomyelia
Very rare. Part of the spinal cord is split, can be associated with spina bifida.
This doesn’t sound like what we have.
Obviously I’ve just scratched the surface on spinal abnormalities, but from what I’m reading, the doctor’s suggestion that IF there is abnormal ossification of the spine there is no real hope is appearing to be true.
I’ll just keep praying the spinal issue is a misdiagnosis.
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