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Updated: Jun 28, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Trends in Reporting of Nuchal Translucency Measurements After the Clinical Introduction of Cell-Free DNA Screening
Timothy Wen1, Loralei L Thornburg, Mary E Norton
1Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, and the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Los Angeles, and the Center for Fetal Medicine and Women's Ultrasound, Los Angeles, California; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Rochester, Rochester, New York; the Divisions of Reproductive Genetics and Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania; the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan; the Perinatal Quality Foundation, Oklahoma City, Oklahoma; and the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts.
Abstract:
Nuchal translucency (NT) measurement in conjunction with serum analytes has been used for first-trimester aneuploidy screening in the United States since 2005. We sought to analyze the trends in reporting of NT measurements to the Nuchal Translucency Quality Review program in all pregnancies beginning after the clinical introduction of cell-free DNA (cfDNA) screening for fetal aneuploidy in 2011. Overall, reported NT measurements decreased 74.3% from 2012 to 2022. A similar decline was noted among individuals with pregnancies at increased risk for aneuploidy based on patient age and twin gestations. The decrease in reporting aligns temporally with the availability of cfDNA screening and the coronavirus disease 2019 (COVID-19) pandemic.

