Congenital disorders Flashcards
(27 cards)
what is the morula
72hrs post fertilization zygote in 16 or more cells
What is a blastocyte (when does it occur, how many cells)
day 4/5
- 100s of cells
- Hollow sphere (called trophoblast) filled w 20-30 cells (inner mass)
What does the trphoblast and inner mass contribute to
trophoblast- contributes to placenta + prevents immune system from attacking embyro
Inner cell mass- becomes embyonic disk
How many days after fertilization will blastocyte embed in uterine lining
7 days after fertiliztion
What happens at 3rd week
Embyonic plate differentiates into mesoderm, endoderm, ectoderm
What happens at 8th week and what is first step
Formation of body organs/systems completed
1st step is neurolation
what does the mesoderm and ectoderm form
mesoderm forms notocord
ectoderm forms nerual plate
when is it considered premature and post term
pre- before 37th w
post- after 42w
What is respiratory distress syndrome (w do lungs finish development)
lungs finish around 32w
-premature lungs wont have lung surficant so there will be too much surface tension
_big risk bf 28w
What is PKU due to and what can it lead to/ what should u avoid
autosomal recissive enzyme required to breakdown phenyalanine to Tyrosine
-leads to intelectual disabilities,seizures, mood issues
Avoid foods w high phenylalanine (breads, pastas, fishes)
What happens in tay sacs
Ressesive mutation in Hexa= cant breakdown glycopros in neurons
Leads to deteriation of mental + physical ability
What is patent ductus arteriosis
Failure of ductus arteriosus to close (usually shunts blood away from lungs; pulmonary artery to aorta)
-puts extra stress on pulmonary artery
What is tetraology fallout
Ventral septal defect
Pulmonary artery stenosis
R ventrical hypertrophy
overiding aorta
What is Dymelia
congenital disorder in limb development
What is amelia, ectrodactaly, polydactyly, syndactyly
amelia- missing limb
Extrodactaly- lacking central digits
Polydactyly- having excess digits
Syndactyly- fused digits
What is fetal alcohol syndrome causued by and s/s
Asociated with consumption of atleast 4drinks/day
s+s= flattened phitrum, thin upper lip, cleft lip/palet
What is an exmple of a teratogenic pharma drug
Thalidomide- caused phocomelia (malformed arms/legs)
What does TORCH stand for
transmitted from mother to baby during delivery
Toxoplasma Others (syphilis) Rubella Cytomegalovrus Herpes
What is folate essential for
essential for closure of neural tibe (deficiency of B12 is sugestive of this)
What is anencephaly
head of neural tube fails to close resulting n abscence of major portion of brain/skull
What is encephaloceles
Protrusion of brain thru skull that is sac like and covered w membrane
What is spina bifia occulta, menigocelle and myelomengiocelle
occulta- spinal column didnt close
menigocelle- Herniation of meninges but not spinal cord
myleomenigocelle- herniation of meniges + spinal cord
What is dystocia-
abnormal or difficult childbirth
what is cerbral palsy
damage to immature brain as it develops (non progressive)
-causes impaired mvmts/reflexes etc
