Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA
Barbara M. O’Brien, Jacquelyn V. Halliday, Geralyn M. Lambert-Messerlian, Elizabeth E. Eklund, Edward M. Kloza, Glenn E. Palomaki
Abstract
Barbara M. O’Brien, Jacquelyn V. Halliday, Geralyn M. Lambert-Messerlian, Elizabeth E. Eklund, Edward M. Kloza, Glenn E. Palomaki
Abstract
What's already known about this topic? Nuchal translucency measurement in the first trimester is a proven marker to assess risk of common aneuploidies. Prenatal screening using cfDNA performs better than any combined ultrasound and serum marker test. The value of an NT scan in women having screening by cfDNA is questionable. What does this study add? A positive NT ultrasound scan did not add to the cases of aneuploidy that were detected by cfDNA screening.
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What's already known about this topic? Nuchal translucency measurement in the first trimester is a proven marker to assess risk of common aneuploidies. Prenatal screening using cfDNA performs better than any combined ultrasound and serum marker test. The value of an NT scan in women having screening by cfDNA is questionable. What does this study add? A positive NT ultrasound scan did not add to the cases of aneuploidy that were detected by cfDNA screening.
Key concepts: Aneuploidy, Nuchal Translucency Measurement, Cell-free fetal DNA, Nuchal translucency, Medicine, Obstetrics, Prenatal screening, Prenatal diagnosis