GENETIC DISORDERS EXPERT FORUM
Did I give anencephaly to my baby?

Did I give anencephaly to my baby?

I lost a baby boy in 1998 to anencephaly I carried him for 20 weeks and had a therapeutic abortion as the baby would not survive. After 18 hours of labour I could clearly see that this little boy had no skull bone, he was missing half his brain as well. We did a family history and didnt see anything that would signify that it was genetic. Last week I received the results of my MRI as I have been having sever headaches, unsteady gait, sleeplessness etc... for years. A sublenticular cyst was noted on the left. My doctor (sleep dr who ordered teh test did not know what this was and googled the definition and really left us both clueless. In doing my own research all I could find was that it could lead to hydocephalus. These are both neural tube defects correct??? My husband and I wanted to start a family and want to be informed and prepared. I already know folic acid is a big thing to take.
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I am very sorry for your loss.  As you know, anencephaly is a type of neural tube defect (NTD) that results in absence of all or part of the brain, neurocranium, and skin.    Anencephaly can occur by itself or associated with other problems and be part of genetic syndrome.  Isolated NTD’s are thought to be caused by a combination of genetic and environmental factors.  Having a previous pregnancy with anencephaly increases your risk to have another pregnancy affected with a NTD.  

It is a great start asking other family members about their medical histories.  It sounds like you may benefit from seeing a genetic counselor to thoroughly interpret the family history information that you have collected and discuss the possible causes of anencephaly.  You can find a genetic counselor through the National Society of Genetic Counselors.  You are correct, folic acid is very important to take prior to conceiving, and your doctor can help determine the most appropriate dose for you given your pregnancy history.  

About the other symptoms that you have described, you may benefit from an evaluation with a neurologist to determine the cause of your gait problems, severe headaches, and assist you in interpreting your MRI.  Best wishes to you.  
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