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First-Trimester Ultrasound pp 131–152Cite as

Aneuploidy Screening: The Ongoing Role of First-Trimester Ultrasound

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Abstract

ACOG recommends that all women be offered aneuploidy screening prior to 20 weeks gestation. The landscape of prenatal aneuploidy screening has evolved from assessing a single parameter (maternal age) to incorporating a myriad of different ultrasound and serum markers, to the most current and direct method of analyzing fetal DNA within maternal circulation. Although the performance of aneuploidy screening has undoubtedly improved over the years, there continues to be discussion surrounding the best use of these technologies in clinical practice. With new technologies we can now screen for additional aneuploidies beyond trisomies 21, 18, and 13. While screening for aneuploidy via circulating cell free fetal DNA (ccffDNA) has become increasingly popular, the benefits of first-trimester ultrasound in the detection of genetic conditions and fetal anomalies cannot be understated. With the expansion in available screening methodologies, we must continue to evaluate the practical implications including clinical utility, patient autonomy, and the ability to provide informed consent for an ever-growing number of chromosomal conditions.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Center for Fetal Diagnosis and Therapy, Wayne State University Physician Group, 3980 John R –, Box 160, Detroit, MI, 48201, USA

    Kristen M. Rauch MS & Melissa A. Hicks MS

  2. Department of Obstetrics and Gynecology, Detroit Medical Center/Hutzel Women’s Hospital, Detroit, MI, USA

    Henry Adekola MD

  3. Department of Obstetrics and Gynecology, Wayne State University School of Medicine, 3990 John R. Street, Detroit, MI, 48201, USA

    Jacques S. Abramowicz MD

Authors
  1. Kristen M. Rauch MS
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  2. Melissa A. Hicks MS
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  3. Henry Adekola MD
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  4. Jacques S. Abramowicz MD
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Corresponding author

Correspondence to Kristen M. Rauch MS .

Editor information

Editors and Affiliations

  1. Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology, Wayne State University School of Medicine, Detroit, Michigan, USA

    Jacques S. Abramowicz

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Rauch, K.M., Hicks, M.A., Adekola, H., Abramowicz, J.S. (2016). Aneuploidy Screening: The Ongoing Role of First-Trimester Ultrasound. In: Abramowicz, J. (eds) First-Trimester Ultrasound. Springer, Cham. https://doi.org/10.1007/978-3-319-20203-7_8

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  • DOI: https://doi.org/10.1007/978-3-319-20203-7_8

  • Publisher Name: Springer, Cham

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