Congenital disorders

Question 1

what is the morula

Answer 1

72hrs post fertilization zygote in 16 or more cells

Question 2

What is a blastocyte (when does it occur, how many cells)

Answer 2

day 4/5

• 100s of cells
• Hollow sphere (called trophoblast) filled w 20-30 cells (inner mass)

Question 3

What does the trphoblast and inner mass contribute to

Answer 3

trophoblast- contributes to placenta + prevents immune system from attacking embyro

Inner cell mass- becomes embyonic disk

Question 4

How many days after fertilization will blastocyte embed in uterine lining

Answer 4

7 days after fertiliztion

Question 5

What happens at 3rd week

Answer 5

Embyonic plate differentiates into mesoderm, endoderm, ectoderm

Question 6

What happens at 8th week and what is first step

Answer 6

Formation of body organs/systems completed

1st step is neurolation

Question 7

what does the mesoderm and ectoderm form

Answer 7

mesoderm forms notocord

ectoderm forms nerual plate

Question 8

when is it considered premature and post term

Answer 8

pre- before 37th w

post- after 42w

Question 9

What is respiratory distress syndrome (w do lungs finish development)

Answer 9

lungs finish around 32w
-premature lungs wont have lung surficant so there will be too much surface tension

_big risk bf 28w

Question 10

What is PKU due to and what can it lead to/ what should u avoid

Answer 10

autosomal recissive enzyme required to breakdown phenyalanine to Tyrosine

-leads to intelectual disabilities,seizures, mood issues

Avoid foods w high phenylalanine (breads, pastas, fishes)

Question 11

What happens in tay sacs

Answer 11

Ressesive mutation in Hexa= cant breakdown glycopros in neurons

Leads to deteriation of mental + physical ability

Question 12

What is patent ductus arteriosis

Answer 12

Failure of ductus arteriosus to close (usually shunts blood away from lungs; pulmonary artery to aorta)

-puts extra stress on pulmonary artery

Question 13

What is tetraology fallout

Answer 13

Ventral septal defect
Pulmonary artery stenosis
R ventrical hypertrophy
overiding aorta

Question 14

What is Dymelia

Answer 14

congenital disorder in limb development

Question 15

What is amelia, ectrodactaly, polydactyly, syndactyly

Answer 15

amelia- missing limb
Extrodactaly- lacking central digits
Polydactyly- having excess digits
Syndactyly- fused digits

Question 16

What is fetal alcohol syndrome causued by and s/s

Answer 16

Asociated with consumption of atleast 4drinks/day

s+s= flattened phitrum, thin upper lip, cleft lip/palet

Question 17

What is an exmple of a teratogenic pharma drug

Answer 17

Thalidomide- caused phocomelia (malformed arms/legs)

Question 18

What does TORCH stand for

Answer 18

transmitted from mother to baby during delivery

Toxoplasma
Others (syphilis)
Rubella
Cytomegalovrus
Herpes

Question 19

What is folate essential for

Answer 19

essential for closure of neural tibe (deficiency of B12 is sugestive of this)

Question 20

What is anencephaly

Answer 20

head of neural tube fails to close resulting n abscence of major portion of brain/skull

Question 21

What is encephaloceles

Answer 21

Protrusion of brain thru skull that is sac like and covered w membrane

Question 22

What is spina bifia occulta, menigocelle and myelomengiocelle

Answer 22

occulta- spinal column didnt close
menigocelle- Herniation of meninges but not spinal cord
myleomenigocelle- herniation of meniges + spinal cord

Question 23

What is dystocia-

Answer 23

abnormal or difficult childbirth

Question 24

what is cerbral palsy

Answer 24

damage to immature brain as it develops (non progressive)

-causes impaired mvmts/reflexes etc

Question 25

When is apgar scoring performed

Answer 25

@ 1 + 5 mins

Question 26

What are the APGAR categories

Answer 26

Apperence
Pulse
Grimmace (reflexes)
Activity (mm tone)
Respiration

Question 27

risk factors of sudden infant death syndrom

Answer 27

sleeping prone, low birth weight, males, mothers<20