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Screening for Chromosomal Anomalies

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Perinatology

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Abstract

Screening for chromosomal anomalies has evolved much since the 1970s. Methods include history, maternal biochemistry, ultrasonographic markers, and the detection of cell-free fetal DNA (cffDNA) on maternal serum. Best results are achieved by combining multiple methods. When providing screening for these conditions, importance should be given to correct counseling, as a screen-positive pregnancy does not mean an affected fetus, thereby indicating the need for a diagnostic procedure before decisions are made. Maternal age alone should not be used for screening because of the low detection rate. Services must choose the most appropriate method for screening based on the resources available.

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Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Ribeirão Preto Medical School – University of São Paulo, Ribeirão Preto, São Paulo, Brazil

    Fabrício da Silva Costa & Conrado Sávio Ragazini

Authors
  1. Fabrício da Silva Costa
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  2. Conrado Sávio Ragazini
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Editor information

Editors and Affiliations

  1. Maternal and Child Department, Fluminense Federal University, Niterói, Rio de Janeiro, Brazil

    Renato Augusto Moreira de Sá

  2. Federal University of Paraíba, João Pessoa, Paraíba, Brazil

    Eduardo Borges da Fonseca

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da Silva Costa, F., Ragazini, C.S. (2022). Screening for Chromosomal Anomalies. In: Moreira de Sá, R.A., Fonseca, E.B.d. (eds) Perinatology. Springer, Cham. https://doi.org/10.1007/978-3-030-83434-0_5

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  • DOI: https://doi.org/10.1007/978-3-030-83434-0_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-83433-3

  • Online ISBN: 978-3-030-83434-0

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