Screening for chromosomal anomalies

Fabricio da Silva Costa; Conrado Savio Ragazini

doi:10.1007/978-3-030-83434-0_5

Screening for chromosomal anomalies

Fabricio da Silva Costa, Conrado Savio Ragazini

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

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.

Original language	English
Title of host publication	Perinatology
Subtitle of host publication	Evidence-Based Best Practices in Perinatal Medicine
Editors	Renato Augusto Moreira de Sá, Eduardo Borges da Fonseca
Place of Publication	Cham Switzerland
Publisher	Springer
Chapter	5
Pages	45-53
Number of pages	9
Edition	1st
ISBN (Electronic)	9783030834340
ISBN (Print)	9783030834333
DOIs	https://doi.org/10.1007/978-3-030-83434-0_5
Publication status	Published - 2022
Externally published	Yes

Keywords

Aneuploidies
Cell-free DNA
Chromosomal anomalies
Nuchal translucency
Screening
Trisomy 21

Access to Document

10.1007/978-3-030-83434-0_5

Cite this

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title = "Screening for chromosomal anomalies",

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.",

keywords = "Aneuploidies, Cell-free DNA, Chromosomal anomalies, Nuchal translucency, Screening, Trisomy 21",

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Screening for chromosomal anomalies. / da Silva Costa, Fabricio; Ragazini, Conrado Savio.
Perinatology: Evidence-Based Best Practices in Perinatal Medicine. ed. / Renato Augusto Moreira de Sá; Eduardo Borges da Fonseca. 1st. ed. Cham Switzerland: Springer, 2022. p. 45-53.

Research output: Chapter in Book/Report/Conference proceeding › Chapter (Book) › Other › peer-review

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AU - Ragazini, Conrado Savio

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AB - 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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KW - Cell-free DNA

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KW - Nuchal translucency

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Screening for chromosomal anomalies

Abstract

Keywords

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