As previously discussed, after the diagnosis of omphalocele, understanding more about the omphalocele (and potential associated issues) is pretty important to knowing what your prognosis is going to be. (http://3yearwait.blogspot.com/2016/04/looking-for-sliver-of-hope.html;http://3yearwait.blogspot.com/2016/04/omphalocele-outcomes.html;http://3yearwait.blogspot.com/2016/04/diagnosing-omphalocele.html) Here is a list of questions I prepared for our follow-up ultrasound and genetic counselor session after our omphalocele diagnosis (which I never got a chance to ask because she had passed away by our follow-up appointment):
Genetic Testing Questions
What does CVS test for that could be the cause/association with omphalocele?
· Trisomy 13/18/21
· Trisomy 14, 15, 16, 17?
· Beckman Weiderman Syndrome (11th Chromosome?)
· What else?
How accurate is the CVS test?
· Specifically for Beckman Weiderman Syndrome
When will we have results?
Omphalocele/Spine Questions
How big is the omphalocele?
What organs are in it?
· Small / large bowel?
· Stomach?
· Liver?
· Spleen?
· Urinary bladder?
· Uterus?
· Ovaries?
Where is it located?
· Above/below/at the umbilical cord?
Are there any other abnormalities?
· Brain / head issues that suggest spina bifida?
· Anything else wrong with the skeleton? (Short / deformed limbs? Clubfoot?)
· Heart abnormalities? (Do we need fetal echocardiogram/other testing?)
Treatment options
This article goes into great detail about all of the treatment options:
(The authors even provide a flow chart! http://medcraveonline.com/JPNC/images/JPNC-01-00024-g001.png)
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