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Robin Elise Weiss, LCCE

Certain Ultrasound Findings are Better at Predicting Down Syndrome

By January 30, 2013

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20 Week Ultrasound - 3D Hands

Second trimester ultrasounds, also known as mid-pregnancy or fetal anomaly screening, have been trying to be used to help detect Down Syndrome for years. There have been a variety of markers of Down Syndrome that can be identified via ultrasound, including:

  • dilated brain ventricles
  • absent or small nose bone
  • increased thickness of the back of the neck
  • an abnormal artery to the upper extremities
  • bright spots in the heart
  • 'bright' bowels
  • mild kidney swelling
  • shortening of an arm bone or thigh bone

Dr. Nicolaides and his team found the following findings did increase the risk of having diagnosis of Down Syndrome: "dilated brain ventricles, increased thickness of the back of the neck, and an abnormal artery to the upper extremities increase the risk by three- to four-fold, and an absent or small nose bone increases the risk by six- to seven-fold."

"The detection of any one of the findings during the scan should prompt the sonographer to look for all other markers or abnormalities," said Prof. Nicolaides. He added that the study also revealed that if a detailed second trimester ultrasound exam demonstrates the absence of all major markers, the risk of having a baby affected by Down's syndrome is reduced by more than seven-fold.

Knowing what weight each of the findings has can help parents decide if they intend to do more invasive testing, which can cause harm to the pregnancy or baby, like breaking the bag of water. Testing for Down Syndrome is not for everyone. Some people only want to know to act on if they should change providers or places of birth or have testing to alert them to other potential problems that may need immediate treatment, like heart conditions.

What would you do with this information?

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"Meta-analysis of second-trimester markers for trisomy 2." M. Agathokleous, P. Chaveeva, L.C.Y. Poon, P. Kosinski, and K.H. Nicolaides. Ultrasound in Obstetrics & Gynecology 2013 (DOI: 10.1002/uog.12364). URL: http://doi.wiley.com/10.1002/uog.12364

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