part 4

Question 1

Incidence of Neural Tube Deficit NTD:

Who does this effect most?

Answer 1

• more girls than boys
• more caucasians and hispanics than african americans
• one of the most common birth defects in US

Question 2

What is the etiology of NTD?

Answer 2

• drug, chemical, or radiation exposure
• maternal malnutrition: low folate levels
• genetic mutation in folate pathways
• syndromes such as trisomy 18, PHAVER syndrome, and Meckel-Gruber syndrome
• pre-pregnancy maternal obesity
• maternal DM, low maternal
• low maternal B12
• maternal hyperthermia
• use of AED in pregnancy

Question 3

How much folic acid should be supplemented for pregnant women?

Answer 3

• 0.4mg/day

- if there is a hx of NTD 4mg/day

Question 4

When should folic acid supplementation begin?

Answer 4

pre pregnancy

Question 5

What are the diagnostic tests for spina bifida occult?

Answer 5

• X-ray
• MRI
• CT
• Ultrasonography

Question 6

What is the prenatal diagnosis of NTD?

Answer 6

• elevated alpha-fetoprotein (AFP) in amniotic fluid; tested at 16 to 18 weeks of gestation
• uterine ultrasound
• chorionic villus sampling (not before 10 weeks of gestation)
• genetic counseling

Question 7

What are the types of NTD’s?

Answer 7

-anencephaly (no brain)
-myelodysplasia (blood issue)
-spina bifida occulta: not visible externally
-spina bifida cystic: visible defect, sac like protrusion
(meningocele/myelomengocele)

Question 8

What is anencephaly?

Answer 8

• absence of cerebral hemispheres
• brainstem function may be intact
• may be incompatible with life: (hours to days/death due to respiratory failure)

Question 9

What are the possible consequences of spina bifida?

Answer 9

• paralysis
• neurogenic bowel/bladder
• hydocephalus
• ortho abnormalities