Embryology (defects)

Question 1

what is spina bifida

Answer 1

Fusion does not occur properly and the neural tube does not close properly; primary
problem is the failure to complete neurulation (posterior neuropore).

Question 2

what determines where damage is in spina bifida

Answer 2

Lack of fusion

determines where the damage is.

Question 3

what is the functionality of the spina bifida point

Answer 3

There is normal function

Question 4

what is the least sever from of spina bifida

Answer 4

spina bifida occulta is the least severe, spinal

vertebrae have not formed properly.

Question 5

what is a classic physical sign of spina bifida

Answer 5

Classical forms shows a bulge of tissue that may be CSF

or involve tissue.

Question 6

how can spina bifida be prevented

Answer 6

Mothers should take folic acid! - decreases risk

Question 7

can surgery help spina bifida

Answer 7

Surgery can help anatomical but not functonal problems.

Question 8

what is Anencephaly

Answer 8

compromised development of the head and skull due to

lack of closure of the anterior neuropore

Question 9

what is cleft palate

Answer 9

Shows failure to correctly form the face

Question 10

where are defects commonly found in cleft palate

Answer 10

defects are mostly in the mouth and nasal area.

Question 11

what is a key feature of cleft lip

Answer 11

almost always asymmetrical

Question 12

what is a feature of cleft palate

Answer 12

almost always central.

Question 13

what is treatment of cleft palate

Answer 13

Able to surgically
fix the problem, results are good because babies cells are proliferating so quickly so the
healing process is very quick and occurs without scarring.

Question 14

what was thalidomide initially marketed to treat

Answer 14

Used to treat morning sickness (1958-1961)

Question 15

what was the problem with thalidomide

Answer 15

resulted in limited development of upper
limbs and relatively normal development of lower limbs.

Additionally, deformed eyes and
hearts, deformed alimentary and urinary tracts, blindness and deafness.

Question 16

why does thalidomide cause problems

Answer 16

Interferes with blood vessel development, affecting nutritional supply which results in cell
death; resulting limbs are unable to be used.

Question 17

why are limbs particularly vulnerable to thalidomide

Answer 17

Morning sickness at 8 weeks gestation

overlaps with limb development,

Question 18

what is thalidomide currently used for

Answer 18

used in leprosy and cancer treatment; should not be given to women of
reproductive age.

Question 19

name 2 features of the teratology of fallot

Answer 19

septal defect between the ventricles (which tends to allow deoxygenated blood into the left ventricle

stenosis of the pulmonary artery (decreasing blood flow to the lungs).

Question 20

what is another cardiac abnormality

Answer 20

Transposition of the great arteries… aorta connected to RV, pulmonary artery connected to
LV- generating two separate blood flows.

Question 21

why does transposition of the great arteries cause problems after birth

Answer 21

Before birth, FO and DA allow mixing of blood
flows sufficiently to sustain fetal growth and development.

Closure of these connections
after delivery separated to blood flows, so the infant become cyanotic.

Question 22

what is another term for cyanotic infant

Answer 22

blue baby syndrome

Question 23

what immediate treatment could be given for artery transposition

Answer 23

administer prostaglandins to keep the ductus arteriosus open, and perhaps opening of a link between the atria

Question 24

what definitive treatment is ultimatley required for artery transposition

Answer 24

switching of the two arteries, to restore the normal blood flows.

Question 25

what are teratogens

Answer 25

factors which dysregulate patterning, causing defects in development.

Question 26

when do teratogens exert their effect

Answer 26

first trimester of pregnancy

Question 27

Many different factors can act as teratogens such as….

Answer 27

illegal drugs, medications and

radiation,