Summary of Important Concepts

Genetic Ultrasound, also referred to as Genetic Sonography, is a technique in which physical features of the fetus are examined to detect whether there is at increased risk for Down syndrome, or other chromosomal abnormalities. Dr. DeVore, one of the pioneers using ultrasound to identify fetuses at risk for Down syndrome, has published numerous studies in the medical literature demonstrating the usefulness of this technique. The detection rate for Down syndrome using Genetic Ultrasound was reported by Dr.DeVore to be 91% in a study published in 1990. The results from a recent study that will be presented at the International Societey of Ultrasound in Obstetrics and Gynecology, London, England, September, 2006, found that the detection rate for Down syndrome using Genetic Ultrasound is greater than 95%. This technique can be used either as an isolated test, or in conjunction with first-trimester nuchal translucency screening, or second-trimester maternal serum screening. When combined with these tests the identification of Down syndrome is increased because Genetic Ultrasound may identify fetuses with Down syndrome that these tests do not detect.

In addition to Down syndrome, Genetic Ultrasound identifies other birth defects such as spinal bifida. Genetic Ultrasound requires specialized training, and does not have the same reliability if not done by a specialist when training in Fetal Echocardiography.

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