Summary of Important Concepts

First-trimester nuchal translucency screening was introduced to prenatal care several years ago. Patients evaluated with this technique are examined between 11 weeks and 13 weeks and 6 days of gestation, or 9 to 12 weeks conceptual age. A number of studies have found that this technique identifies between 60% and 90% of fetuses with trisomies 18 and 21. In addition, several studies have identified a relationship between an abnormal nuchal translucency and congenital heart defects. First-trimester nuchal translucency screening has met with varied enthusiasm in different parts of the world. At the present time it is not part of routine screening in the United States, although it is gaining momentum as a viable test. A recent study, published in the New England Journal of Medicine, has demonstrated that this technique can be used in women of all maternal ages to identify fetuses at risk for Down syndrome (Trisomy 21).

When this test is performed properly, it identifies fetuses at incrased risk for Down syndrome, trisomy 18, heart defects, and other problems. This test should be performed by physicians with specialized training.

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