the diagnosis - anencephaly

The following information was found here:

What is it?
Anencephaly is a condition present at birth that affects the formation of the brain and the skull bones that surround the head. Anencephaly results in only minimal development of the brain. Often, the brain lacks part or all of the cerebrum (the area of the brain that is responsible for thinking, vision, hearing, touch, and movement). There is no bony covering over the back of the head and there may also be missing bones around the front and sides of the head.


Anencephaly is a type of neural tube defect. Neural tube defects, spina bifida (open spine) and anencephaly (open skull) are seen in one to two per 1,000 live births.
During pregnancy, the human brain and spine begin as a flat plate of cells, which rolls into a tube, called the neural tube. If all or part of the neural tube fails to close, leaving an opening, this is known as an open neural tube defect, or ONTD. This opening may be left exposed (80 percent of the time), or covered with bone or skin (20 percent of the time).
Anencephaly and spina bifida are the most common ONTDs, while encephaloceles (where there is a protrusion of the brain or its coverings through the skull) are much rarer. Anencephaly occurs when the neural tube fails to close at the base of the skull, while spina bifida occurs when the neural tube fails to close somewhere along the spine.
ONTDs happen to couples without a prior family history of these defects in over 90 percent of the cases. ONTDs result from a combination of genes inherited from both parents, coupled with environmental factors. For this reason, ONTDs are considered multifactorial traits, meaning "many factors," both genetic and environmental, contribute to their occurrence.

Genetic counseling may be recommended by the physician to discuss the risk of recurrence in a future pregnancy as well as vitamin therapy (a prescription for folic acid) that can decrease the recurrence for ONTDs. Extra folic acid, a B vitamin, if taken one to two months prior to conception and throughout the first trimester of pregnancy, has been found to decrease the reoccurrence of ONTDs, for couples who have had a previous child with an ONTD. You cannot obtain the proper amount of folic acid in a multivitamin. A prescription from an obstetrician or other healthcare provider (prior to pregnancy) is needed in order to have the proper dosage.

More info available on anencephaly here:

In the weeks after Sammy's birth I have found information about a possible link between neural tube defects and MTHFR. 

**updated 2013**

During my pregnancy with Jake I was tested for the MTHFR mutation and sure enough I have 2 copies on the C667 gene (or something like that, I don't remember the details anymore). According to my specialist, that is indeed why Sammy had anencephaly. I will need to be on a folic acid supplement *before* any future pregnancies to decrease my chances of another baby with a neural tube defect.