Anencephaly

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Anencephaly

• Laci Bodin

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What is Anencephaly?

• It is a defect in the closure of the neural tube
  during fetal development. The neural tube is a
  narrow channel that folds and closes between the
  3rd and 4th weeks of pregnancy to form the brain
  and spinal cord of the embryo.

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What occurs.

• The cephalic or head 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 (front part of brain) and a cerebrum
  (thinking and coordinating part of the brain).
• The remaining brain tissue is often exposed.
• A baby born with anencephaly is usually blind,
  deaf, unconscious, and unable to feel pain. Some
  can be born with a rudimentary brain with if the
  lack of a functioning cerebrum permanently rules
  out the possibility of ever gaining consciousness
  but reflex actions such as breathing may occur.
• If the infant if not stillborn, then he or she
  will usually die within a few hours or days after
  birth.

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THE CAUSE IS UNKOWN!!

• Although it is thought that a mothers diet and
  vitamin intake may play a role, scientists
  believe that many other factors are also
  involved.
• Recent studies show that addition of folic acid
  to the diet of women of childbearing age may
  significantly reduce the incidence of neural tube
  defects. (0.4 mg daily)

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Folic Acid

• Folate and folic acid are forms of a
  water-soluble B vitamin. Folate occurs naturally
  in food. Folate is necessary for the production
  and maintenance of new cells. This is especially
  important during periods of rapid cell division
  and growth such as infancy and pregnancy. Folate
  is needed to make DNA and RNA, the building
  blocks of cells. It also helps prevent changes to
  DNA that may lead to cancer
• What foods provide folate?Leafy greens such as
  spinach and turnip greens, dry beans and peas,
  fortified cereals and grain products, and some
  fruits and vegetables are rich food sources of
  folate. Some breakfast cereals (ready-to-eat and
  others) are fortified with 25 percent or 100
  percent of the Daily Value (DV) for folic acid.
• Some situations that increase the need for folate
  include
• pregnancy and lactation (breastfeeding)
• alcohol abuse
• malabsorption
• kidney dialysis
• liver disease
• certain anemias.

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Suggestive screening test

• It is common to screen a womans blood for alpha
  fetoprotein.
• A high level of AFP suggests a fetus with a
  neural tube defect.
• Amniocentesis can also help detect neural tube
  defects by measuring AFP.
• There is no cure or standard treatment for this
  birth defect.

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Prince Brandon

•   Prince may sound like an arrogant title for us
  to use. What other name can you give to someone
  who came into the world and left without ever
  making a sound, but changed so many lives
  forever!  Brandon was a surprise to his daddy and
  me. We were married for less than 5 months when
  we discovered that we were going to have a baby!
  Since I had been told that I was not going to be
  able to conceive (due to health problems on my
  part), I was worried about the health of our
  baby. The technician began the ultrasound,
  commenting on how tiny I was carrying. She
  mentioned how she couldn't see the baby well and
  would have to get the doctor.  The doctor came
  into the room and after only a minute, he said,
  "there is no good way to say this. Do you want to
  talk here or in the office, because there is
  something wrong with your baby." Jeffrey started
  to cry and squeezed my hand. I wanted to know
  immediately, while I lay on the table with my
  baby on the screen. He said, "Your baby has a
  birth defect like you were talking about with the
  counselor. The baby has anencephaly. There is a
  100 fatality rate with this defect." I remember
  those words exactly. I always will. This is the
  moment my life changed forever. It is the moment
  I became a mourning mommy and the moment I
  discovered my anencephaly blessing from above. By
  this I mean, that instead of preparing for my
  son's life, I began mourning his inevitable
  death.

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Sunshine and Katelyn

• On January 8, 2000, my husband, Josh, and I found
  out that I was pregnant for the first time.  Our
  due date was September 15, 2000, nine long months
  away. The doctors office scheduled me to go in
  for an ultrasound first thing Monday morning,
  February 14. We went in and the ultrasound
  technician found that we were having twins---WOW!
  It was a great Valentines Day gift.  We decided
  to have the triple-screen pregnancy testing done,
  because if they could detect problems, sometimes
  they can help the babies before they are born. I
  got a call from the doctors office that my test
  came back high. They then scheduled me for a
  level II ultrasound. I was 17 weeks along on
  April 10, when we went to our ultrasound. Our
  ultrasound technician scanned Baby B first.
  Everything looked really good.  She told us we
  were having two girls.  When she went to scan
  Baby A, she talked for a little bit and then got
  really quiet. She went to get the doctor, and I
  became certain that something was very wrong. The
  doctor proceeded to tell us news that changed our
  lives forever, that our Baby A had anencephaly. 
  This is a fatal neural tube defect where the
  brain and skull do not develop because the neural
  tube failed to close 28 days into the pregnancy. 
  We were in total shock to find out that nothing
  could be done for her.  They robbed us of all
  hope for her that day.  I found myself wishing
  that she could have had anything except a defect
  that would not allow her to live.

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Are you related?....

• Couples that have had a previous child with a
  neural tube have a 1 in 40 chance of recurrence.
• More distant (second degree) relatives to an
  individual such as nieces or nephews would have
  a 1 in 200 risk of a neural tube defect.
• Third degree relatives such as cousins have a 1
  in 400 risk for a neural tube defect.
• And fourth degree would have a risk similar to
  general population 1 in 670.

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Support groups

• The antenatal Genetics Clinic at the Alberta
  Childrens Hospital will provide counseling and
  arrange prenatal testing if requested by the
  family or family practitioner.
• There are many websites that give access to
  support groups and other mourning parents.
• Health.groups.yahoo.com
• www.climb-support.org

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