Module 10.2 : Soft Markers

Question 1

soft markers

Answer 1

• increase the fetal risk for a genetic disease
• correlation with other risk factors
  + history
  + maternal age over 35
  + maternal serum testing results
• patients are referred for genetic counselling to review risk of having a chromosomally abnormal fetus
• patients decide if they will choose to have a genetic testing like an amniocenteses or CVS

Question 2

5 soft markers on ultrasound

Answer 2

• nuchal fold > 6mm
• echogenic bowel
• mild ventriculomegaly > 10 mm
• echogenic focus in the heart
• choroid plexus cysts

Question 3

3 soft markers when seen alone not with chromosomal abnormality

Answer 3

- single umbilical artery 
   \+ cardiac abnormalities
   \+ renal abnormalities 
   \+ growth restriction 
- enlarged cisterna magna > 10mm
- pyelectasis 
   \+ dilation of kidneys

Question 4

soft markers associated with trisomy 21

Answer 4

• EIF = echogenic intracrdiac focus
• thick nuchal fold
• echogenic bowel
• shortened femur/ humerus
• absent nasal bone

Question 5

echogenic intracardiac focus (EICF) (EIF)

Answer 5

• must be as bright as bone
  + 4 chamber splits screen
  + turn down gain all the way till bone disappears then notice if still present
• 88% only in left
• 5% in right
• 7% in both
• right sided, biventricular, or multiple are reviewed
• NOT ASSOCIATED WITH CONGENITAL HEART DISEASE

Question 6

nuchal fold

Answer 6

• 16-17 6/7 weeks >/= 5mm
• 18-24 weeks >/= 6mm
• nuchal index
  + mean nuchal fold / BPD
  + value of 11

Question 7

echogenic bowel

Answer 7

- must be as bright as bone 
   \+ same procedure as EIF
- association with nonchromosomal abnormalities
   \+ cystic fibrosis
   \+ congenital infection 
   \+ intra-amniotic bleed
   \+ Down syndrome

Question 8

shortened long bones

Answer 8

• femur or humerous
• below 2.5% fro gestational age
• > 0.9 of that predicted by measure BPD
• use BPD/long bone chart

Question 9

choroid plexus cysts

Answer 9

• CPCs
• demonstrate in 2 planes
• cyst >/= 3mm
• look for open hands

Question 10

fetal renal pelvic dilation

Answer 10

• not a marker on its own
• if seen with other markers then considered a multiple marker and more worrisome
• 16-20 wks >/= 5mm
• if > 10mm at any time in a pregnancy is a concern for renal blockage or hydronephroses

Question 11

2 vessel cord

Answer 11

• singel umbilical artery
• could result in
  + cardia
  + renal
  + low birth weight
• fetal echo don’t at 24 wks

Question 12

mild ventriculomegaly

Answer 12

• > /= 10mm
• trisomy 21
  + idiopathic
  = don’t know why they are connected

Question 13

nasal bone

Answer 13

• hypoplastic or absent nasal bone is big marker for T21
• routinely seen on nuchal lucency exam
• not routinely scanned in detailed but seen in profile

Question 14

what to assess for nasal bone

Answer 14

• absent or hypoplastic
• ethnicity must be considered
• Caucasian pop absent nasal bone is high risk for aneuploidy
• having a nasal bone significantly decreases risk of T21

Question 15

fifth finger clinodactyly

Answer 15

• hypoplastic or absent mid phalanx of fifth digit
• finger will curve inward
• marker for T21