Module 10.2 Soft Markers Flashcards

1
Q

What are soft markers?

A
  1. Sonographic findings that do not represent a structural anomaly
  2. They may be a normal variant or may indicate an increased risk of underlying fetal genetic abnormality
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2
Q

Soft markers correlate with other risk factors such as what?

A
  1. History (previous pregnancies, family history)
  2. Maternal age
  3. Maternal serum testing results
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3
Q

Patients are referred for _____________ to review their risk of having a chromosomal abnormal fetus

A

Genetic counselling

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4
Q

Patients will decide if they will choose to have genetic testing like what?

A

Amniocentesis or CVS

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5
Q

What are soft markers on ultrasound?

A
  1. Thickened nuchal fold
  2. Echogenic bowel
  3. Mild ventriculomegaly
  4. Echogenic focus in the heart
  5. CHoroid plexus cyst
  6. Shortened long bones

Meet C’s

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6
Q

What are some soft markers associated with T21?

A
  1. Echogenic intracardiac focus
  2. Nuchal fold increase
  3. Absent, hypoplastic nasal bone
  4. Echogenic bowel
  5. Shortened femur/ humerus
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7
Q

Echogenic intracardiac focus (EIF) can be what?

A

Unilateral or bilateral, single or multiple

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8
Q

EIF can happen _____ in the left ventricle, _____ in the right and _____ biventricular?

A
  1. 88%
  2. 5%
  3. 7%
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9
Q

_________, ________ or __________ are considered more significant and are reviewed for what?

A
  1. Right sided, biventricular or multiple
  2. Possible karyotyping (amniocentesis)
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10
Q

Is EIF associated with congenital heart disease?

A

No

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11
Q

EIF must be as bright as what?

A

Bone

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12
Q

For EIF what must we do if we see it?

A
  1. Document four chamber view in split screen
  2. One screen demonstrating the EIF
  3. Second screen decrease gain until bone disappears
  4. Is the EIF still present?
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13
Q

What is the size of nuchal fold factors that are normal at 16-17 weeks?

A

> _ 5mm

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14
Q

What is the normal values for Nuchal fold around 18-24 weeks ?

A

> _ 6 mm

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15
Q

What is the nuchal index formula?

A

(Mean nuchal fold in mm/ BPD in mm) x 100

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16
Q

What is the threshold value is for nuchal index?

A

11

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17
Q

________ or ________ nasal bone is an ultrasound marker for fetal Down syndrome?

A

Hypoplastic or absent nasal bone

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18
Q

Nasal bone is routinely visualized where?

A

On nuchal translucency screen

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19
Q

When should the Nasal bone be demonstrated?

A

On fetal profile image at the 18 week detailed scan

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20
Q

At the 18 week scan for the nasal bone what should we see for Down’s?

A

Absent or hypoplastic <_2.5mm

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21
Q

Should ethnicity be considered for nasal bone? Why?

A
  1. Yes
  2. In the Caucasian population an absent nasal bone is suggestive of an increase of an aneuploidy
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22
Q

What significantly decreases the risk of having T21?

A

Having a nasal bone

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23
Q

What is echogenic bowel?

A

When the bowel must be as bright as bone

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24
Q

If have a echogenic bowel what must we do?

A
  1. Same technique to document as EIF
  2. However, must use <_ 5 MHz transducer frequency
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25
Q

On the split screen what should be placed where for an echogenic bowel?

A
  1. One side demonstrate echogenic bowel
  2. Other side turn gains down until bone disappears
26
Q

Is the echogenic bowel associated with T21?

A

Yes

27
Q

Echogenic bowel is associated with what type of abnormalities? Such as what?

A

Non chromosome abnormalities such as
1. Congenital infection
2. Intramniotic bleeding

28
Q

What is considered shortened long bones?

A
  1. Below the 2.5% for gestation age
  2. <0.9 of that predicted by predicted BPD
29
Q

What are measured in shortened long bones?

A

Femur or humerus

30
Q

What do we use to compare BPD and Long bone?

A

Charts provided at the scanning sites

31
Q

What is this chart an example of?

A

Shortened long bone chart

32
Q

What is mild ventriculomegaly? What do we see them with?

A

When the ventricles are
1. >_ 10 mm
2. Trisomy 21 (its idiopathic)
3. Triploidy

33
Q

What is fifth finger clinodactyly?

A

Hypoplastic or absent mid- phalanx of the fifth digit. on the pinky

34
Q

What does the finger look like during clonodactyly?

A

Finger will curve inward

35
Q

What percentage of bilateral clinodactyly is found in babies with T21?

A

60%

36
Q

Are Choroid plexus cysts common?

A

Yes, 1 in 50 fetuses

37
Q

Is Choroid plexus cysts isolated?

A

Yes

38
Q

If we see choroid plexus cysts what should we do?

A
  1. Demonstrate in two planes
  2. IF the cyst is >_3mm
39
Q

What can choroid plexus be associated with ?

A

Trisomy 18

40
Q

What else should we look for when we see choroid plexus cysts?

A

Look for open hands

41
Q

If we see the soft markers _____, _______, ______, on ultrasound alone are they associated with chromosomal abnormalities?

A
  1. 2VC - single umbilical artery
  2. Pyelectasis
  3. Enlarged cisterna magna
  4. They are not associated with chromosomal abnormalities but seen in conjunction with other markers increase risk
42
Q

What is a 2 vessel cord look like? How common is it?

A
  1. Single umbilical artery
  2. Common, 1 in 100 pregnancies
43
Q

What is 2 vessel cords associated with?

A
  1. Cardiac and renal anomalies
  2. Low birth weight (10%)
  3. Chromosomal abnormalities (5%)
44
Q

When can we see 2 vessel chord?

A

Around 24 weeks

45
Q

What are some associated 2 vessel cord chromosomal abnormalities?

A
  1. Mainly T18
  2. T13
  3. Triploidy
46
Q

Is fetal renal pelvic dilation a marker on its own?

A

NO

47
Q

If we see fetal renal pelvic dilation with other markers it is considered what/

A

A multiple marker making this finding more worrisome

48
Q

Around 16-20 weeks what is an abnormal reading for fetal renal pelvic dilation?

A

> _ 5mm

49
Q

IF ______ at any time in a pregnancy fetal renal pelvic dilation is a concern for what?

A
  1. > _ 10mm
  2. Renal blockage or hydronephrosis
50
Q

What is this disorder?

A

EIF

51
Q

What would be a enlarged cisterna magna?

A

> 10mm

52
Q

What does Enlarged cisterna Magna often includes?

A

Hypoplasia or agenesis of the cerebella’s vermis

53
Q

What does this image demonstrate?

A

Chorion Plexis cysts

54
Q

With enlarged cisterna magna, genetic syndromes are found in _______ cases?

A

> 50%

55
Q

What does this image demonstrate?

A

Echogenic bowel

56
Q

What does this image demonstrate?

A

Thickened nuchal fold

57
Q

Enlarged cisterna magna is associated with what defects and what is the defect rate?

A
  1. T18 and 13
  2. 30%
58
Q

What does this image demonstrate?

A

Nasal bone vs absent `

59
Q

What does this image demonstrate?

A

Mild Ventriculomegaly

60
Q

What does this image demonstrate?

A
61
Q

What does this image demonstrate?

A

Enlarged Cisterna Magna

62
Q

What does this image demonstrate?

A

2 vessel cord