Fetal Anomalies Flashcards

1
Q

Optimal time to perform detailed US fetal anatomic survey?

A

18- 22 weeks AOG

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2
Q

First trimester biochemical screening includes?

A
  1. PAPP P
  2. HCG
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3
Q

1st trimester Biochemical screening:
PAPP P = Low
HCG = High

A

Down Sydrome (Trosomy 21)

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4
Q

Serum markers used in “QUAD TEST” during the 2nd trimester

A
  1. AFP
  2. Unconjugated Estriol 3
  3. HCG
  4. Inhibin A
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5
Q

QUAD TEST:
AFP = Low
uE3 = Low
HCG = High
Inhibin A = High

A

Down syndrome (trisomy 21)

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6
Q

QUAD TEST:
AFP = High
uE3 = Low
HCG = Low
Inhibin A = unchanged

A

Edward Syndrome (Trisomy 18)

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7
Q

QUAD TEST:
AFP = High
uE3 = unchanged
HCG = unchanged
Inhibin A = unchanged

A

Open neural tube defect

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8
Q

AFP is primarily produced by?

A

Fetal Liver.

  • increased levels in maternal serum = Neural tube defect
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9
Q

Most common chromosomal abnormality

A

Down Syndrome (trisomy 21)

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10
Q

2nd most common Chromosomal anomaly

A

Edward Sydrome (Trisomy 18)

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11
Q

Cisterna Magna = <2mm
CROWDING of the posterior fossa with inferior displacement of the cerebellar tonsils

A

Chiari Malformation

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12
Q

Cisterna Magna= > 1.1 cm
Large (Dakula) posterior fossa with associated upward displacement of the torcula (torcula-lambdoid inversion), hypoplastic cerebellar hemisphere and hydrocephalus

A

Dandy-walker Malformation

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13
Q

Non fusion of vertebral arches with intact skin

A

Spina Bifida Occulta

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14
Q

Protruding sacs with only CSF as the content

A

Meningocele

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15
Q

Sac plus spinal nerve roots/spinal cord

A

Myelomeningocele

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16
Q

Open spinal defect

A

Myeloschisis

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17
Q

Most common location of Spina Bifida?

A

Lumbosacral

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18
Q

Most common neural tube defect

A

Anencephaly

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19
Q

US:
Absent cranial vault.
Absent cerebral hemispheres above the orbits

A

Anencephaly

20
Q

Most common location of cephalocele?

A

Occipital (75%)

Fronto-ethmoidal (13%)
Parietal regions (12%)

21
Q

US sign: frontal Bossing seen in Chiari?

A

Lemon sign

22
Q

US sign: curvilinear appearance of the cerebellum due to compression seen in Chiari?

A

Banana sign

23
Q

Myelomeningocele
Elongated 4th ventricle
Inferiorly displaced cerebella tonsils
Crowded posterior fossa

A

Chiari II malformation

24
Q

Total destruction of cerebral cortex sec to ICA occlusion. Cranial vault contains fluid WITHOUT cortical mantle of brain tissue.
Incomplete falx.
Normal brainstem

A

Hydrancephaly

25
Most common cleft lip/palate deformity
Lateral Cleft involving both lip and palate
26
Wide central defect in the upper lip and palate associated with holoprosencephaly
Median Cleft
27
Fluid collection in the fetal neck sec to failure of the lymphatics to connect with the venous system of the neck
Cystic hygroma
28
Differentiating factor of cystic hygroma vs cephalocele?
Cystic hygroma has prominent midline septum (nuchal ligament) w/o underlying bony defect.
29
Fetal hydrops resulting from maternal and fetal blood incompatibility
Immune hydrops
30
Best time to do QUAD TEST
15- 21 weeks AOG
31
Hamartomatous cystic lesion of the lung, usually affecting 1 lobe
Cystic adenomatoid malformation
32
Cystic adenomatoid malformation characterized by single or multiple cyst of >2cm
Type 1
33
Cystic adenomatoid malformation characterized by multiple cyst of <2cm, uniform size
Type II
34
Cystic adenomatoid malformation characterized by multiple microcysts appearing as echogenic solid mass
Type III
35
Echogenic solid mass displacing the mediastinum and is supplied by sytemic arteries and vein. Contained within their own pleura.
Pulmonary sequestration, Extralobar type
36
Most common pulmonary sequestration with intact venous drainage
Intralobar type
37
By 18 weeks, it is normal not to see the fluid filled stomach even after repeat scanning after 1h or so.
False Fluid-filled stomach - visible at 18 wks If not, repeat scan after 1h or so. If still not seen= abnormal
38
Fetal swallowing begins at 11 to 12 weeks
True
39
SB normal diameter: <6, length: <1.5 cm LB normal diameter: <2.3 cm (20 wks)
True
40
Double bubble sign
Duodenal atresia/stenosis
41
MIDLINE defect with herniation of abdominal contents at the base of the umbilicus. Covered by thin sac composed of peritoneum and amnion.
Omphalocele
42
Occurs to the right of the umbilicus. No membrane covering. NORMAL Cord insertion. Better prognosis
Gastroschisis
43
Most common site of teratoma
Sacrococcygeal (70%)
44
Most common lethal skeletal dysplasia features: - Small thorax - Cloverleaf skull - Hydrocephalus - Large head - Polyhydramnios
Thanatophoric Dwarfism
45
Polydactyly plus polecystic kidney
Meckel- Gruber Sydrome
46
Osteogenesis Imperfecta Hallmark:
Osteoporosis