Anencephaly (from Greek meaning "no in-head", i.e. total lacking the inside part of the head, i.e. the brain) is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development.

• Blind
• Deaf
• Unaware of it's surroundings
• Unable to feel pain

• It is a cephalic disorder (i.e. congenital condition stemming from damage to, or abnormal development of, the bodding nervous system)
• It is caused by a neural tube defect (i.e. condition where an opening in the spinal cord or brain remains from early in human development), specifically, the head end of the neural tube fails to close, usually between day 23-26 following conception
• Kids born with this condition lack the telencephalon (i.e. the largest part of the brain, consisting mainly of the cerebral hemospheres, including the neocortex, responsible for cognition)
• The remaining structure is usually covered only by a thin layer of membrane, with the skin, bone, meninges, etc, all lacking
• Although some Pt's may be born with a main brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining awareness of their surroundings. Only reflex actions such as breathing and responses to sound/touch may occur

• Folic acid, as it is important in neural tube formation
• There may be a hereditary component
• Risk is increased for:
  • Certain epileptic drugs
  • Having insulin-dependent diabetes
  • High exposure to toxins (e.g. lead, chromium, mercury, nickel)

Patient information

What is it exactly that causes anencephaly ?
We know that there is a link between taking too little folic acid and neural tube defects.

• Screening before birth, using a detailed fetal U/S, which can screen for neural tube defects such as spina bifida or anencephaly
• AFP screening (alpha-fetoprotein)

• Prevention, w/:
  • Folic acid (0.4mg/day) when planning to pregnancy, at even higher doses (4mg/day) if the Pt has had a previous pregnancy w/ a neural tube defect. It is not advisable to wait until pregnancy has begun since the critical time for the formation of th eneural tube defect has usually already passed
  • Most infants aren't aggressively resuscitated because there is no chance of the infant ever achieving a conscious existence. Artificial ventilation, surgery for congenital defects, and abx are usually regarded as futile
• Genetic counselling, to women at high risk to discuss available testing
• Palliative care:
  • Offer hydration, nutrition, and comfort measures, although even this is controversial
  • Some anencephalic babies are able to drink a bottle, but may require a special bottle for babies who have difficulty swallowing to feed normally
  • Some parents like to apply to their heads, an antibiotic cream, a Vaseline coated bandage, and then a regular bandage. You can change their dressings 2 times a day
  • You can express breastmilk for your baby
  • Find ways to create memories of your children, naming your chidlren [even if they were born stillborn]
  • Older children may want to meet their sibling, as it can help them understand what has happened if they know their new sibling has died
  • Plaster hand and footprints
  • Videotaped U/S, of their heart beating during a prenatal exam with a Doppler
  • Cutting locks of hair and fingernails
  • Save cord clamp
  • Save any clothes the baby wore
  • Lots of pictures
  • Plant a tree in their memory
  • Dry and press any flowers froma funeral or memorial service
  • Take care of yourself nutritionally and physically

• Death
• Most infants do not survive birth
• If the infant is not stillborn, they will usually die within a few hours or days after birth from cardiorespiratory arrest
• The longest period of survival recorded has been 1 month short of 4yo
• The chance of having a 2nd child w/ a neural tube defect after 1 is 3%, as compared to a background risk of 0.1% in the general population

• Accounts for 55% of non-aborted cases
• Occurs in 0.01% of births
• Female babies are more likely to be affected
• Taking folic acid daily in those attempting to conceive or may possibly conceive, reduces the risk to 0.03%
• There is ethical conroversy around:
  • Organ donation, as Pt's cannot be declared brain dead as they possess some brain stem reflexes such as spontaneous respirations
  • Abortion, as because it is a fatal condition, parents have the option to abort even in trimester 2 and 3

• Spina bifida
• Neural tube defect (category)