Module 10.2 Soft Markers Flashcards
What are soft markers? 2
- Sonographic findings that do not represent a structural anomaly
- They may be a normal variant or may indicate an increased risk of underlying fetal genetic abnormality
Soft markers correlate with other risk factors such as what? 3
- History (previous pregnancies, family history)
- Maternal age
- Maternal serum testing results
Patients are referred for _____________ to review their risk of having a chromosomal abnormal fetus
Genetic counselling
Patients will decide if they will choose to have genetic testing like what?
Amniocentesis or CVS
What are soft markers on ultrasound? 6
- Thickened nuchal fold
- Echogenic bowel
- Mild ventriculomegaly
- Echogenic focus in the heart
- CHoroid plexus cyst
- Shortened long bones
Meet C’s
What are some soft markers associated with T21? 5
- Echogenic intracardiac focus
- Nuchal fold increase
- Absent, hypoplastic nasal bone
- Echogenic bowel
- Shortened femur/ humerus
Echogenic intracardiac focus (EIF) can be what?
Unilateral or bilateral, single or multiple
EIF can happen _____% in the left ventricle, _____% in the right and _____% biventricular?
- 88%
- 5%
- 7%
Right sided, biventricular or multiple are considered more significant and are reviewed for what?
Possible karyotyping (amniocentesis)
Is EIF associated with congenital heart disease?
No
EIF must be as bright as what?
Bone
For EIF what must we do if we see it? 4
- Document four chamber view in split screen
- One screen demonstrating the EIF
- Second screen decrease gain until bone disappears
- Is the EIF still present?
What is the size of nuchal fold factors that are normal at 16-17 weeks?
> _ 5mm
What is the normal values for Nuchal fold around 18-24 weeks ?
> _ 6 mm
What is the nuchal index formula?
(Mean nuchal fold in mm/ BPD in mm) x 100
What is the threshold value is for nuchal index?
11
________ or ________ nasal bone is an ultrasound marker for fetal Down syndrome?
Hypoplastic or absent nasal bone
Nasal bone is routinely visualized on what screening?
On nuchal translucency screen
When should the Nasal bone be demonstrated?
On fetal profile image at the 18 week detailed scan
At the 18 week scan for the nasal bone what should we see for Down’s?
Absent or hypoplastic <_2.5mm
Should ethnicity be considered for nasal bone? Why?
- Yes
- In the Caucasian population an absent nasal bone is suggestive of an increase of an aneuploidy
What significantly decreases the risk of having T21?
Having a nasal bone
What is echogenic bowel?
When the bowel must be as bright as bone
If we see a echogenic bowel what must we do? 2
- Same technique to document as EIF
- However, must use <_ 5 MHz transducer frequency
On the split screen what should be placed where for an echogenic bowel?
- One side demonstrate echogenic bowel
- Other side turn gains down until bone disappears
Is the echogenic bowel associated with T21?
Yes
Echogenic bowel is associated with what type of abnormalities? Such as what?
Non chromosome abnormalities such as
1. Congenital infection
2. Intramniotic bleeding
What is considered shortened long bones? 2
- Below the 2.5% for gestation age
- <0.9 of that predicted by predicted BPD
What are measured in shortened long bones?
Femur or humerus
What do we use to compare BPD and Long bone?
Charts provided at the scanning sites
What is this chart an example of?
Shortened long bone chart
What is mild ventriculomegaly? What conditions do we see them with? 3
When the ventricles are
1. >_ 10 mm
2. Trisomy 21 (its idiopathic)
3. Triploidy
What is fifth finger clinodactyly?
Hypoplastic or absent mid- phalanx of the fifth digit. on the pinky
What does the finger look like during clonodactyly?
Finger will curve inward
What percentage of bilateral clinodactyly is found in babies with T21?
60%
Are Choroid plexus cysts common?
Yes, 1 in 50 fetuses
Is Choroid plexus cysts isolated?
Yes
If we see choroid plexus cysts what should we do? 2
- Demonstrate in two planes
- IF the cyst is >_3mm
What can choroid plexus be associated with ?
Trisomy 18
What else should we look for when we see choroid plexus cysts?
Look for open hands
If we see the soft markers _____, _______, ______, on ultrasound alone, they are not associated with chromosomal abnormalities but seen in conjunction with other markers increase risk 3
- 2VC - single umbilical artery
- Pyelectasis
- Enlarged cisterna magna
What is a 2 vessel cord look like? How common is it?
- Single umbilical artery
- Common, 1 in 100 pregnancies
What is 2 vessel cords associated with? 3
- Cardiac and renal anomalies
- Low birth weight (10%)
- Chromosomal abnormalities (5%)
When can we see 2 vessel chord?
Around 24 weeks
What are some associated 2 vessel cord chromosomal abnormalities? 3
- Mainly T18
- T13
- Triploidy
Is fetal renal pelvic dilation a marker on its own?
NO
If we see fetal renal pelvic dilation with other markers it is considered what?
A multiple marker making this finding more worrisome
Around 16-20 weeks what is an abnormal reading for fetal renal pelvic dilation?
> _ 5mm
IF > 10mm at any time in a pregnancy fetal renal pelvic dilation is a concern for what?
Renal blockage or hydronephrosis
What is this disorder?
EIF
What would be a enlarged cisterna magna?
> 10mm
What does Enlarged cisterna Magna often includes?
Hypoplasia or agenesis of the cerebella’s vermis
What does this image demonstrate?
Chorion Plexis cysts
With enlarged cisterna magna, genetic syndromes are found in _______ cases?
> 50%
What does this image demonstrate?
Echogenic bowel
What does this image demonstrate?
Thickened nuchal fold
Enlarged cisterna magna is associated with what defects and what is the defect rate? 2
- T18 and 13
- 30%
What does this image demonstrate?
Nasal bone vs absent `
What does this image demonstrate?
Mild Ventriculomegaly
What does this image demonstrate?
What does this image demonstrate?
Enlarged Cisterna Magna
What does this image demonstrate?
2 vessel cord
