Tests for my Unborn Baby /

Antenatal Ultrasound Abnormalities: Soft Markers

01 In Brief

Soft markers identify an increase in fetal risk of genetic disease or malformation. These are findings detected at the 18-20 week scan can occur in a normal fetus and are not automatically considered an abnormality. However, they can be seen more frequently in a fetus with chromosomal problems and so their presence is an indication that a detailed scan should be conducted. 

In isolation (not associated with other defects), and in a woman whose screening tests have not revealed any other problems, they are less likely to be of significance.

02 What Do I Need To Know?

FETAL SOFT MARKERS

The Screening Ultrasound at 18 weeks evaluates 8 markers:

  • 5 markers are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems: 
    • Thickened nuchal fold;
    • Echogenic bowel;
    • Mild ventriculomegaly;
    • Echogenic focus in the heart;
    • Choroid plexus cyst.
  • 3 are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation: 
    • Single umbilical artery:
    • Enlarged cisterna magna;
    • Pyelectasis. 
  • Identification of soft markers for fetal aneuploidy requires correlation with other risk factors, including history, maternal age, and maternal serum testing results.

03 What Others Say

  • Specialised Obstetric and Gynaecology Imaging  Brisbane, Queensland

Thickened Nuchal Skin Fold

Echogenic Bowel

Echogenic Intracardiac Focus: EIF

Choroid Plexus Cysts

  • Kaiser Permanante: US based genetic service

Mild Ventriculomegaly

Single Umbilical Artery fact sheet

04 I Want To Know More

Patient Information from Leeds Teaching Hospital UK

Patient Information on Soft Markers

 

05 Clinicians Tools and Resources

RCOG UK 

The use and understanding of soft ultrasound markers

The information published here has been reviewed by Flourish Paediatrics and represents the available published literature at the time of review.
The information is not intended to take the place of medical advice.
Please seek advice from a qualified healthcare professional.
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Last updated: 29/06/2011 by Dr Elizabeth Hallam/Claire Galea*