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Ultrasound Findings Flashcards

1
Q

Measurement for dating pregnancy in first trimester

A

crown-rump length

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2
Q

Measurement for dating pregnancy in second trimester

A

composite gestational age measurement

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3
Q

Elements of the composite gestational age

A
  1. biparietal diameter
  2. circumference of the head
  3. abdominal circumference
  4. femur length
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4
Q

Indications for a targeted ultrasound examination (feel free to add more)

A
  • Suspicious findings on a Level I scan
  • History of prior congenital anomaly
  • Insulin dependent diabetes or other medical problem that increases the risk of anomaly.
  • History of seizure disorder, particularly if being treated with medications known to increase the risk of anomaly.
  • Teratogen exposure
  • Abnormal serum screen (AFP)
  • Suspected chromosome abnormality
  • IUGR
  • Fetal arrhythmia
  • Oligohydramnios, Polyhydramnios, Anhydramnios
  • Advanced maternal age
  • Medication Exposure/Drug Use
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5
Q

Soft markers on ultrasound

A
  • echogenic bowel
  • echogenic intracardiac focus
  • hydronephrosis
  • short humerus, short femur
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6
Q

gestational age when nuchal translucency can be measured

A

11-14 weeks

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7
Q

Cutoff for increased NT:

A

measurement greater than the 95th percentile (usually >3mm or >3.5mm

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8
Q

Increased NT causes:

A
  1. cardiac failure or severe CHDs
  2. venus congestion of head/neck
  3. delayed/abnormal development of the lymphatic system
  4. altered composition of subcutaneous connective tissue
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9
Q

Increased NT differential:

A
  1. chromosome abnormalities (T21>T13/18>Turner>triploidy)
  2. isolated cardiac/renal/genitourinary tract defect
  3. genetic syndrome (noonan)
  4. normal fetus.
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10
Q

% of fetuses with increased NT that have a chromosomal abnormality

A

20-60% …so just a lot

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11
Q

(some) genetic syndromes associated with increased NT

A

Noonan, Multiple pterygium syndrome, 22q, Joubert, Meckel-Gruber, SLOS, SMA type 1, Zelleweger, Turner, T21, et al

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12
Q

Prognosis of isolated increased NT

A

50-85% normal outcome (with normal karyotype)

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13
Q

Difference between increased NT and cystic hygroma

A

No scientific consensus

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14
Q

Options for first trimester cystic hygroma

A
  1. diagnostic testing
  2. serum screening (but will be positive is NT is >99 percentile)
  3. detailed fetal anatomy scan (18-20weeks)
  4. fetal echo (18-22 weeks)
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15
Q

% cystic hygroma associated with aneuploidy

A

~60% (mostly Turner, DS, T18, Noonan), higher risk when seen in 2nd trimester than 1st

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16
Q

percentage of karyotypically normal cystic hygroma (normal outcome)

A

10% normal outcome

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17
Q

Absent nasal bone differentials

A

T21 (absent in 68%), T18 (55%), T13 (35%), Turner (10%)

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18
Q

Cleft lip +/- Cleft palate incidence, M:F ratio, recurrence risk

A

1 in 700 newborns
2:1 M:F ratio
recurrence risk 3-5%

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19
Q

CL +/- CP differentials

A

Aneuploidy
Micro del/dup (22q11.2)
Isolated defect

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20
Q

Choroid plexus cyst prognosis

A

99% normal, 1% risk of aneuploidy (T18)

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21
Q

Hydronephrosis incidence

A

2-3% of fetuses, isolated 84% of the time

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22
Q

isolated echogenic bowel prognosis

A

60-85% normal healthy infants

23
Q

echogenic bowel differentials

A

GI malformations, CF, viral infection (CMV, tovxo, parvo), T21 or other chromosome abnormality

24
Q

Isolated intracardiac echogenic focus prognosis

A

isolated ICEF is most often normal variation

25
Q

Hydrops: definition and prognosis

A

excess fluid in 2+ body cavities

75-90% mortality (d/t heart defects, aneuploidy, infections)

26
Q

Two vessel cord (single umbilical artery) prognosis

A

20-30% have other anomalies
25% have IUGR
50% have LBW

low risk of aneuploidy if isolated

27
Q

Dandy-Walker malformation prognosis

A
  • 15-30% risk of aneuploidy, up to 70% have other anomalies

- anchor sign on U/S

28
Q

Rhabdomyoma prognosis

A

50-85% tuberous sclerosis

29
Q

Duodenal atresia

A

30% risk of T21

30
Q

lethal femur lenth:abdominal circumference ratio

A

<0.16

31
Q

Campomelic dysplasia US findings

A

shortened limbs, bell shaped chest, micrognathia, CP, club feet

32
Q

Thanatophoric dysplasia US findings

A

bowed long bones, shortened upper bones, telephone-receiver shaped femurs, short ribs, cloverleaf skull, polyhydramnios

33
Q

Molar tooth sign indicates what syndrome?

A

Joubert syndrome

34
Q

Lemon and banana sign indicate:

A

open neural tube defects

35
Q

holoprosencephaly

A

30% risk of aneuploidy (13)

36
Q

hydrocephalus

A

risk of aneuploidy, NTDs, infections

37
Q

EA/TEF

A
  • detectable after 24 weeks (swallowing)
  • small stomach & polyhydramnios
  • T21, VACTERL
  • 60% of TEF have other anomalies
38
Q

ASD/VSD

A
  • usually sporadic

- 10-15% aneuploidy

39
Q

Coarctation of Aorta

A
  • Turner (mostly)

- 22q, maternal diabetes

40
Q

Tetralogy of Fallot

A
  • usually sporadic
  • 22q, CHARGE, Goldenhaar, Alagille
  • 18% have other anomalies
41
Q

Rhabdomyoma

A
  • 50-80% have tuberous sclerosis
42
Q

Ebstein’s Anomaly

A
  • tricuspid valve displacement
  • usually sporadic
  • enlarged right atrium
  • lithium teratogen!
43
Q

HLHS

A
  • small left ventricle, atresia of mitral valve/aordic arch

- 16% have aneuploidy

44
Q

AV canal defect

A
  • 60% have T21

- 10% have aspenia/polysplenia

45
Q

Gastroschesis

A
  • <1% risk of aneuploidy

- young mom’s who smoke club

46
Q

Omphalocele

A
  • 30-50% risk aneuploidy
  • T13, T18, Beckwith-Wiedeman
  • 60% other anomalies
47
Q

Diaphragmatic Hernia

A
  • 10-25% risk aneuploidy (T18)
  • recurrence risk 1-2%
  • Fryns syndrome
  • Cornelia de Lange syndrome
48
Q

Hydronephrosis/pyelectasis

A
  • 20% other anomalies
49
Q

Polycystic kidneys

A
  • bilateral enlarged echogenic kidneys & oligohydramnios

- infant = autosomal recessive, adult = autosomal dominant

50
Q

Renal agenesis

A
  • Potter sequence

- usually sporadic

51
Q

Club foot

A
  • 30-40% have identifiable cause
52
Q

Achondroplasia

A
  • shortened long bones
  • macrocephaly
  • 80% de novo (FGFR3)
53
Q

Triploidy

A
  • cleft lip/palate
  • hydrocephalus
  • limb abnormality
  • oligohydramnios
  • renal abnormalities

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