Fetal Anomalies Flashcards
Optimal time to perform detailed US fetal anatomic survey?
18- 22 weeks AOG
First trimester biochemical screening includes?
- PAPP P
- HCG
1st trimester Biochemical screening:
PAPP P = Low
HCG = High
Down Sydrome (Trosomy 21)
Serum markers used in “QUAD TEST” during the 2nd trimester
- AFP
- Unconjugated Estriol 3
- HCG
- Inhibin A
QUAD TEST:
AFP = Low
uE3 = Low
HCG = High
Inhibin A = High
Down syndrome (trisomy 21)
QUAD TEST:
AFP = High
uE3 = Low
HCG = Low
Inhibin A = unchanged
Edward Syndrome (Trisomy 18)
QUAD TEST:
AFP = High
uE3 = unchanged
HCG = unchanged
Inhibin A = unchanged
Open neural tube defect
AFP is primarily produced by?
Fetal Liver.
- increased levels in maternal serum = Neural tube defect
Most common chromosomal abnormality
Down Syndrome (trisomy 21)
2nd most common Chromosomal anomaly
Edward Sydrome (Trisomy 18)
Cisterna Magna = <2mm
CROWDING of the posterior fossa with inferior displacement of the cerebellar tonsils
Chiari Malformation
Cisterna Magna= > 1.1 cm
Large (Dakula) posterior fossa with associated upward displacement of the torcula (torcula-lambdoid inversion), hypoplastic cerebellar hemisphere and hydrocephalus
Dandy-walker Malformation
Non fusion of vertebral arches with intact skin
Spina Bifida Occulta
Protruding sacs with only CSF as the content
Meningocele
Sac plus spinal nerve roots/spinal cord
Myelomeningocele
Open spinal defect
Myeloschisis
Most common location of Spina Bifida?
Lumbosacral
Most common neural tube defect
Anencephaly
US:
Absent cranial vault.
Absent cerebral hemispheres above the orbits
Anencephaly
Most common location of cephalocele?
Occipital (75%)
Fronto-ethmoidal (13%)
Parietal regions (12%)
US sign: frontal Bossing seen in Chiari?
Lemon sign
US sign: curvilinear appearance of the cerebellum due to compression seen in Chiari?
Banana sign
Myelomeningocele
Elongated 4th ventricle
Inferiorly displaced cerebella tonsils
Crowded posterior fossa
Chiari II malformation
Total destruction of cerebral cortex sec to ICA occlusion. Cranial vault contains fluid WITHOUT cortical mantle of brain tissue.
Incomplete falx.
Normal brainstem
Hydrancephaly