Nasal Bone Measurement To Diagnose Down Syndrome

Down syndrome occurs in 1 of 1000 live births and in most cases occurs in families with no previous history of the syndrome. Ultrasound and maternal blood samples are screening tests used to identify women with an increased risk of carrying a baby with Down syndrome. In the past 30 years, extensive progress has been made in fetal ultrasound technology, as well as in Down syndrome detection. However, Down syndrome detection continues to be one of the main challenges of perinatal medicine. It is important to keep in mind that even the best combination of ultrasound findings and other screening tests are only predictive and not diagnostic. Amniocentesis or chorionic villus sampling is necessary for true diagnosis; however, nasal bone measurement appears to be an encouraging marker for earlier detection of Down syndrome.