Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes

Brian Shaffer; Mary E. Norton

doi:10.1016/j.ogc.2017.10.001

Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes

Brian Shaffer, Mary E. Norton

Obstetrics and Gynecology

Research output: Contribution to journal › Review article › peer-review

17 Scopus citations

Abstract

Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.

Original language	English (US)
Pages (from-to)	13-26
Number of pages	14
Journal	Obstetrics and Gynecology Clinics of North America
Volume	45
Issue number	1
DOIs	https://doi.org/10.1016/j.ogc.2017.10.001
State	Published - Mar 2018

Keywords

Aneuploidy screening
Cell-free DNA screening
Noninvasive prenatal testing
Prenatal diagnosis
Prenatal screening

ASJC Scopus subject areas

Obstetrics and Gynecology

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10.1016/j.ogc.2017.10.001

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title = "Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes",

abstract = "Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.",

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AU - Norton, Mary E.

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AB - Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.

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KW - Prenatal diagnosis

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Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes

Abstract

Keywords

ASJC Scopus subject areas

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