Good News for Would-be Mothers: Early, Non-Invasive Method to Assess Down Syndrome Risk a Success

July 6, 2011

A study unveiled today at the 24th annual Society for Maternal-Fetal Medicine (SMFM) meeting brings hope to all pregnant women looking for an early, non-invasive way to assess their risk of delivering a baby with Down Syndrome. The trial reveals that measuring fetal neck fold thickness (nuchal translucency) by ultrasound, combined with a measurement of biochemical markers, is effective in the first trimester.

Society for Maternal-Fetal Medicine
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Website: www.smfm.org 

NEW ORLEANS, LA (Feb. 5, 2004) – A study unveiled today at the 24th annual Society for Maternal-Fetal Medicine (SMFM) meeting brings hope to all pregnant women looking for an early, non-invasive way to assess their risk of delivering a baby with Down Syndrome. The trial reveals that measuring fetal neck fold thickness (nuchal translucency) by ultrasound, combined with a measurement of biochemical markers, is effective in the first trimester.

“This trial is the first in the U.S. to study Down Syndrome risk assessment in both first and second trimesters,” said Dr. Fergal Malone, study author and SMFM member. “After testing 38,000 women, we found that nuchal translucency sonography, added to certain first-trimester serum markers, is a reliable way to assess Down Syndrome risk in the first trimester and has similar performance to second-trimester approaches.” 

The procedure uses an ultrasound picture of the fetus to measure the fluid accumulated behind the fetus’s neck. If the neck folds are swollen with fluid, this can be an indicator of Down Syndrome. The woman may then choose to undergo more invasive procedures such as amniocentesis or chorionic villus sampling. News of this method is especially important to the growing number of women waiting until after age 35 to have children. The chances of having a Down Syndrome baby increase after age 35, and at age 40 they are one in 110. 

“Having a first-trimester, non-invasive method to assess each woman’s risk for Down Syndrome will allow many women, initially perceived to be at high-risk because of their age, to avoid invasive testing, based on the results of the sonographic and serum markers,” said Dr. Mary D’Alton, principal investigator of the study and former SMFM president. “This will also give pregnant women of all ages who prefer to avoid more invasive procedures a way to learn their personal risk level.”

This new research, known as the FASTER (First and Second-Trimester Evaluation of Risk) Trial, expands upon the findings of more than 30 other studies, including the recent BUN (Biochemistry, Ultrasound and Nuchal Translucency) study from 2002. 

The Society for Maternal-Fetal Medicine will be offering training courses for individuals performing the procedure in the coming months. As obstetrician-gynecologists who have an additional two to three years education and clinical training, maternal-fetal medicine specialists (MFMs) are the premier source of information about high-risk pregnancies. For more information, or to locate an MFM in your area, visit www.smfm.org

To interview the study authors or other maternal-fetal medicine specialists please contact Stacy Scarazzo at 202.367.1632 or Sanda Pecina, on-site in New Orleans, at 703.967.2676.

Abstracts from this meeting can be read here