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