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PBR 2 > Fetal Anomalies > Flashcards

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
Q

Most common cleft lip/palate deformity

A

Lateral Cleft involving both lip and palate

26
Q

Wide central defect in the upper lip and palate associated with holoprosencephaly

A

Median Cleft

27
Q

Fluid collection in the fetal neck sec to failure of the lymphatics to connect with the venous system of the neck

A

Cystic hygroma

28
Q

Differentiating factor of cystic hygroma vs cephalocele?

A

Cystic hygroma has prominent midline septum (nuchal ligament) w/o underlying bony defect.

29
Q

Fetal hydrops resulting from maternal and fetal blood incompatibility

A

Immune hydrops

30
Q

Best time to do QUAD TEST

A

15- 21 weeks AOG

31
Q

Hamartomatous cystic lesion of the lung, usually affecting 1 lobe

A

Cystic adenomatoid malformation

32
Q

Cystic adenomatoid malformation characterized by single or multiple cyst of >2cm

A

Type 1

33
Q

Cystic adenomatoid malformation characterized by multiple cyst of <2cm, uniform size

A

Type II

34
Q

Cystic adenomatoid malformation characterized by multiple microcysts appearing as echogenic solid mass

A

Type III

35
Q

Echogenic solid mass displacing the mediastinum and is supplied by sytemic arteries and vein. Contained within their own pleura.

A

Pulmonary sequestration, Extralobar type

36
Q

Most common pulmonary sequestration with intact venous drainage

A

Intralobar type

37
Q

By 18 weeks, it is normal not to see the fluid filled stomach even after repeat scanning after 1h or so.

A

False

Fluid-filled stomach - visible at 18 wks
If not, repeat scan after 1h or so.
If still not seen= abnormal

38
Q

Fetal swallowing begins at 11 to 12 weeks

A

True

39
Q

SB normal diameter: <6, length: <1.5 cm
LB normal diameter: <2.3 cm (20 wks)

A

True

40
Q

Double bubble sign

A

Duodenal atresia/stenosis

41
Q

MIDLINE defect with herniation of abdominal contents at the base of the umbilicus. Covered by thin sac composed of peritoneum and amnion.

A

Omphalocele

42
Q

Occurs to the right of the umbilicus. No membrane covering.
NORMAL Cord insertion.
Better prognosis

A

Gastroschisis

43
Q

Most common site of teratoma

A

Sacrococcygeal (70%)

44
Q

Most common lethal skeletal dysplasia features:
- Small thorax
- Cloverleaf skull
- Hydrocephalus
- Large head
- Polyhydramnios

A

Thanatophoric Dwarfism

45
Q

Polydactyly plus polecystic kidney

A

Meckel- Gruber Sydrome

46
Q

Osteogenesis Imperfecta Hallmark:

A

Osteoporosis

PBR 2 (10 decks)

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