OB TEST #5

  1. MSAFP
    Maternal Serum Alpha Feto Protein
  2. Causes of Elevated MSAFP
    Neural tube defects
  3. Rhizomelia
    Short proximal limb (short longbones)
  4. Mesomelia
    Short mid-segment of a limb (forearm/lower leg)
  5. Acromelia
    Short distal segments (hands/feet)
  6. Micromelia
    Shortening of entire limb
  7. Neural Tube Defect (NTD)
    • Occurs anywhere along the cranium/spine
    • Allows CSF to escaped in amniotic fl
  8. Polydactyly
    Too many digits (fingers/toes)
  9. Brachydactyly
    Short digits (fingers/toes)
  10. Micrognathia
    Small jaw, no chin
  11. Macroglossia
    Large tongue
  12. Frontal bossing
    Prominent forehead
  13. Syndactyly
    Fusion of digits (webbed hands/feet)
  14. Transposition of the Great Vessels
    Origins of great vessels are transposed (switched to the wrong side)
  15. Tachycardia
    Fast heart rate
  16. Bradycardia
    Slow heart rate
  17. Acrania
    • aka Exencephaly
    • NO Skull
  18. Microcephaly
    Small head
  19. Thanatophoric Dysplasia
    • Most common form of dwarfism
    • LETHAL
  20. Thanatophoric Dysplasia USA 
    • HEAD: Clover leaf skull, frontal bossing, Hydrocephaly
    • THORAX: Bell shaped (champagne cork)
    • BONES: Phone rcvr "bowed", hypomineralization
  21. Osteogenesis Imperfecta
    • Disorder of the production, secretion or function of collagen
    • Type II is LETHAL
  22. Osteogenesis Imperfecta USA
    Bone fractures, hypomineralization of the skull
  23. Heterozygous Achondroplasia
    • Most common form of genetic skeletal dysplasia
    • NON-LETHAL
  24. Heterozygous Achondroplasia USA
    • Incr HC
    • Depressed nasal bridge
    • Trident hand
    • Brachydactyly
  25. Club Foot
    • aka Talipes Equinovarus
    • Foot turns inward & down
    • Assoc w/ Oligohydramnios, Spina Bifida, Chromosomal abnormalities
  26. Club Foot USA
    Abnormal angle between lower leg & foot
  27. UPJ (Ureteropelvic Junction)
    • Obstruction is at the Renal pelvis
    • Most common cause of Fetal Hydro
  28. UVJ (Ureterovesicular Junction)
    Obstruction is from Utero to UB
  29. UVJ (Ureterovesicle Junction) USA
    • Varying degrees of Hydro
    • Hydroureter (Uni or Bi)
    • Normal AFI w/ ureterocele
    • Anechoic
    • Thin-walled structure @ trigone of UB
  30. PUV (Posterior Urethral Valve)
    Occurs mostly in MALES
  31. PUV USA
    • Massive Bilateral Hydro & Hydroureter
    • Keyhole UB
  32. Potter's Syndrome
    • Bilateral Renal agenesis
    • Pulmonary Hypoplasia
    • Face/Limb deformities due to Oligohydramnios
  33. Prune Belly Syndrome
    • Weakened ABD wall musculature
    • Massively dilated UB
    • Common cause is PUV
  34. Renal Agenesis
    Congenital Absence of 1 or both renals
  35. Renal Agenesis USA
    • Severe Oligohydramnios betw 16 & 28 wks
    • Absence of kidneys w/ obvious adrenal gland that mimic kidneys
  36. Multicystic Dysplastic Kidney Disease (MDKD)
    • Potter's Type II
    • Obstruction of kidneys during development causing Renal parenchyma being replaced by a cyst
  37. MDKD USA
    • Multiple Peripheral cysts
    • Can't see UB
  38. Infantile Polycystic Kidney Disease (IPKD)
    Symmetric Renal enlargement by mult small cysts
  39. IPKD USA
    • Enlarged echogenic kidneys
    • (football size)
  40. CCAM
    • Congenital Cystic Adenomatoid Malformation 
    • Cysts in lungs
  41. CCAM USA Type I
    1 or more large cysts  >2cm (macrocystic)
  42. CCAM USA Type II
    Multiple small cysts <1-2 cm
  43. CCAM USA Type III
    • Mult cysts too small to see in U/S
    • Lungs=hyperechoic
    • Prognosis NOT good
  44. Diaphragmatic Hernia
    • Defective formation of the diaphragm
    • Left side occurrence 85% times more likely
  45. Diaphragmatic Hernia USA
    • Fl filled bowel & stomach in chest @ level of 4 chamber heart
    • Heart -> RT chest
    • NO stomach in ABD
    • Assoc w/ Polyhydramnios
    • If RT sided hernia: liver in chest
    • Stomach -> RT side
  46. Pleural Effusion
    Fl around lungs
  47. Pl Effusion USA
    Anechoic fl around lungs on 1 or both sides
  48. Duodenal Atresia
    • Most common perinatal intestinal obstruction
    • Assoc w/: Trisomy 21 & Cardiac/Vertebral anomalies
  49. Duodenal Atresia USA
    • "Double Bubble" sign
    • Dilated stomach & proximal duodenum has polyhydramnios
    • NOT visible until after 24 wks
  50. Cystic Hygroma
    Obstruction of Lymphatic system
  51. Cystic Hygroma USA
    • Pl Effusion around lungs
    • Skin edema
    • Ascites
    • Post to Neck may incl septations
  52. Dandy Walker
    • Complete or partial absence of cerebellar vermis & cystic dilation 
    • POST FOSSA
  53. DANDY WALKER USA
    • Splaying of Cerebellar vermis
    • Dilated 4th ventricle
    • CM >11mm/1cm
  54. Holoprosencephaly
    • Incr cleavage of primitive prosencephalon assoc w/ ML facial defects
    • Types: Alobar, Semilobar, Lobar
    • USA depends on type
  55. Vein of Galen Aneurysm
    • AVM in 3rd ventricle
    • ML betw thalami
  56. Vein of Galen Aneurysm USA
    Color doppler identifies large area of flow ML in brain
  57. Ventriculomegaly
    • aka Hydrocephalus
    • Dilation of Lateral Ventricles that results fr obstruction & Incr CSF
  58. Ventriculomegaly USA
    • Dangling choroid
    • Fl collection in ventricles
  59. Anencephaly
    • Most common NTD
    • Skull is absent
    • Incr AFP
    • Frog-like orbit / NO brain tissue
  60. Encephalocele
    • aka Cephalocele
    • Protrusion of brain contents
    • Skull defect or opening
  61. Spina Bifida
    • Lack of closure of vertebral column
    • 2 types: Meningocele/Meningomyelocele
    • Sac like protrusion fr spine
    • "U or V" shape in TRV
  62. Arnold Chiari Type II Malformation
    • Assoc w/ Spina Bifida
    • Fruit sign -> Lemon sign skull, banana sign cerebellum
  63. ASD
    • Atrial Septal Defect
    • Abnormal opening betw Rt/Lt atrium
  64. VSD
    • Ventricular Septal Defect
    • Hole in foramen
    • Most common fetal heart defect
  65. Hypoplastic Left Heart Syndrome
    • Small LT Ventricle -> Decr bl flow in/out of LT ventricle
    • Absent or very small LT Ventricle
  66. Tetrology of Fallot
    • 4 anatomic abnormalities:
    • VSD
    • Overriding AO
    • RT ventricular hypertrophy
    • Stenosis of RVOT
  67. Pentalogy of Cantrell
    • 5 abnormalities:
    • ML defect in sternum (Omphalocele)
    • Ectopia Cordis
    • Diaphragmatic Hernia
    • Complete/Partial absence of pericardium
    • Structural heart disease
  68. Choroid Plexus Cyst
    Cyst in Choroid Plexus
  69. Trisomy 21
    • aka Down Syndrome
    • Decr MSAFP, UE3, 
    • Incr HCG, INHIBIN A
  70. Trisomy 21 USA 1st Tri
    • Nuchal Translucency >3mm
    • Cystic Hygroma
  71. Trisomy 21 USA 2nd Tri
    • Nuchal Fold >6mm
    • Duodenal Atresia
    • Small/Absent nasal bone
    • Clenched hands
    • Hyperechoic bowel
  72. Trisomy 18
    • aka Edward's Syndrome
    • Still birth
  73. Trisomy 18 USA
    • Overlapping fingers/flexed hands
    • Choroid plexus cyst
    • Rocker bottom feet
    • Strawberry shaped cranium
    • Omphalocele
  74. Trisomy 13
    • aka Pataus Syndrome
    • Poor prognosis
    • Retardation
  75. Trisomy 13 USA
    • Holoprosencephaly
    • Cleft lip/palate (ML)
    • Polydactyly
    • VSD
    • 2-vessel cord
  76. Turner's Syndrome
    • Monosomy X
    • Affects FEMALE gender
    • USA: Cystic Hygroma
  77. Beckwith-Weidman Syndrome
    • Congenital Disorders w/ EMG anomalies
    • USA: Exomphalos, Macroglossia, Gigantism (hepatosplenomegaly)
Author
marie78
ID
265736
Card Set
OB TEST #5
Description
Lectures 17-20
Updated