Tuesday, April 4, 2017

Questions after a diagnosis of omphalocele and treatment options

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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