In Transcription Today...

Today I typed the report of a 30-year-old white female who is about 11 weeks pregnant and developed vaginal bleeding.  States she has had some mild lower abdominal cramping with a past history of ectopic pregnancy.  No recent illness.  She did state that she had an ultrasound in her ob/gyn's office several days ago that shows proximal anencephaly.

I only know of one of one other case of anecephaly that broke my heart when I was in x-ray school training way back when.  What is anecephaly? Anencephaly is a cephalic disorder that results from a neural tube defect that occurs when the cephalic (head) end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp.  Infants with this disorder are born without a forebrain, the largest part of the brain consisting mainly of the cerebral hemispheres (which include the isocortex, which is responsible for higher level cognition, i.e., thinking). The remaining brain tissue is often exposed - not covered by bone or skin.

In the United States, approximately 1,000 to 2,000 babies are born with anencephaly each year. Female babies are more likely to be affected by the disorder. (Don't ask me why cause I don't know, some study I presume). 

Infants born with anencephaly are usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brainstem, which controls autonomic and regulatory function, the lack of a functioning cerebrum is usually thought of as ruling out the possibility of ever gaining consciousness, even though it has been disputed specifically. Reflex actions such as breathing and responses to sound or touch may occur. I can't imagine how hard it would be to birth a baby who doesn't have a head, or only part of it, only to know that it will die. I still remember the ultrasound technician crying after the patient left the department, seeing this on ultrasound the first time.  The technician herself was pregnant at the time. The particular child in this ultrasound only had a brainstem for a head; no formation of any part of the head or face.    

There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth, accounting for 55% of non-aborted cases. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth from cardiorespiratory arrest.

Prognosis: In almost all cases anencephalic infants are not aggressively resuscitated since there is no chance of the infant ever achieving a conscious existence. Instead, the usual clinical practice is to offer hydration, nutrition and comfort measures and to "let nature take its course". Artificial ventilation, surgery (to fix any co-existing congenital defects), and drug therapy (such as antibiotics) are usually regarded as futile efforts. Clinicians and medical ethicists may view the provision of nutrition and hydration as medically futile. Occasionally some may even go one step further to argue that euthanasia is morally and clinically appropriate in such cases.

Causes:  The cause of anencephaly is unknown. Neural tube defects do not follow direct patterns of heredity, though there is some indirect evidence of inheritance, and recent animal models indicating a possible association with deficiencies of the transcription factor TEAD2. Studies show that a woman who has had one child with a neural tube defect such as anencephaly, has about a 3% risk to have another child with a neural tube defect.

It is known that women taking certain medication for epilepsy and women with insulin dependent diabetes have a higher chance of having a child with a neural tube defect. Genetic counseling is usually offered to women at a higher risk of having a child with a neural tube defect to discuss available testing.

Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce, although not eliminate, the incidence of neural tube defects. Therefore, it is recommended that all women of child-bearing age consume 0.4 mg of folic acid daily, especially those attempting to conceive or who may possibly conceive, as this can reduce the risk to 0.03%. It is not advisable to wait until pregnancy has begun, since by the time a woman knows she is pregnant, the critical time for the formation of a neural tube defect has usually already passed. A physician may prescribe even higher dosages of folic acid (4 mg/day) for women who have had a previous pregnancy with a neural tube defect.

okay, bloggers, that is your medical lesson for today, however sad it is. Makes me think about those who have a brain and just don't use it (like Lord Spoiled and Griszelda Mess)

(*taken from Wikipedia; *picture source from a medical museum)