Medical Education Library

The Harmony™ Prenatal Test: A non-invasive approach to the detection of common fetal trisomies

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Most developed countries offer genetic screening and testing for aneuploidy as a standard part of prenatal care. Conventional screening requires a consideration of maternal age in the context of serum markers or ultrasonographic measurement of nuchal translucency or other fetal structures. Moreover, this conventional method of screening is associated with a false-positive rate of at least 2% to 3% and a false-negative rate of 5% or more.1 Abnormal results necessitate the use of chorionic villus sampling (CVS) or amniocentesis to sample fetal cells and achieve a diagnosis. Even when these invasive diagnostic procedures are performed carefully by the most experienced practitioners, however, they carry a small risk of fetal injury and pregnancy loss.

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