Anencephaly

Julia Pabafikos
 What is Anencephaly?
- Anencephaly is a serious birth defect in which a baby
is born without parts of the brain and skull.
- It is a type of neural tube defect (NTD).
- Results in a baby being born without the front part of
the brain (forebrain) and the thinking and
coordinating part of the brain (cerebrum).
- The remaining parts of the brain are often not
covered by bone or skin.
Symptoms of the Disease
- A baby born with anencephaly is usually blind, deaf,

unaware of its surroundings and unable to feel pain.

- Reflex actions such as breathing and responses to sound

or touch may occur

- Absence of bony covering over the back of the head

- Missing bones around the front and sides of the head

- Folding of the ears

- Cleft palate

- Heart defects
Common Screening Tests: Diagnosis
- In most cases, anencephaly is

sporadic, meaning it does not run in

families.

- Alpha- Fetoprotein

- Amniocentesis

- Ultrasound
Types of Anencephaly
1. Meroanencephaly

2. Holoanencephaly

3. Craniorachischisis
The Cause
- Multiple genetic and environmental factors.

- Some of these factors have been identified, but many remain

unknown.

- Gene MTHFR

- A shortage (deficiency) of folate appears to play a significant role.

- Diabetes mellitus, obesity, exposure to high heat (such as a fever or

use of a hot tub or sauna) in early pregnancy

- The use of certain anti-seizure medications during pregnancy

The Effect

- The nervous system

tissue to break down.
- Are missing large parts
of the brain called the
cerebrum and
cerebellum.
- The bones of the skull
are also missing or
incompletely formed.
Treatment for the
- There is no cure or standard
Disease: Prognosis treatment for anencephaly
- The prognosis for patients is death.
Most anencephalic fetuses do not
survive birth
- Infants that are not stillborn will
usually die within a few hours or days
after birth from cardiorespiratory
arrest
BioEthical Consideration
- Pediatric organ transplantation offers an increasing number of
seriously ill children the opportunity for a healthy life
- However, vital organs, such as the heart and kidneys, are often
normal.
- About 1000 to 2000 live anencephalic births occur annually in
this country.
- Brain stem function enables many anencephalic infants to
survive for hours or days and, in rare cases, for a few weeks.
- Transplant surgeons, medical ethicists, and state legislators,
have proposed that these infants' organs be used for
transplantation
Hardy Weinberg
https://docs.google.com/spreadsheets/d/1bgSyNrKJ4xcVPbjRef
WiAvHD8TJ3BvF2Y0D8KVjcCoM/edit#gid=1869036836

USA = 1/10,000
p= .99
q= .01

Ghana=8/10,000
p= .97
q= .03

Nigeria= 3/10,000
p= .98
q= .02
USA Hardy Weinberg
Ghana Hardy Weinberg
Nigeria Hardy Weinberg
Work Cited
1. 2013, Boston Children's Hospital. “Congenital Heart Defects.” Boston Childrens Hospital,

www.childrenshospital.org/conditions-and-treatments/conditions/c/congenital-heart-

defects/overview.

2. “Anencephaly.” Wikipedia, Wikimedia Foundation, 28 Feb. 2018, en.wikipedia.org/wiki/Anencephaly.

3. “Birth Defects.” Centers for Disease Control and Prevention, Centers for Disease Control and

Prevention, 2 Aug. 2017, www.cdc.gov/ncbddd/birthdefects/anencephaly.html

4. “Anencephaly Causes, Symptoms, and Life Expectancy.” MedicineNet,

www.medicinenet.com/anencephaly/article.htm.

5. “Anencephaly - Genetics Home Reference.” U.S. National Library of Medicine, National Institutes of

Health, ghr.nlm.nih.gov/condition/anencephaly.