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Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory

BACKGROUND: We evaluated the performance of a cell‐free DNA (cfDNA) prenatal screening assay for trisomies 21, 18, and 13, and sex chromosome aneuploidies (SCAs) among a population of pregnant women that included both those at average and high risk. METHODS: Specimen collection, cfDNA extraction, ma...

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Autores principales: Guy, Carrie, Haji‐Sheikhi, Farnoosh, Rowland, Charles M., Anderson, Ben, Owen, Renius, Lacbawan, Felicitas L., Alagia, Damian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418367/
https://www.ncbi.nlm.nih.gov/pubmed/30706702
http://dx.doi.org/10.1002/mgg3.545
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author Guy, Carrie
Haji‐Sheikhi, Farnoosh
Rowland, Charles M.
Anderson, Ben
Owen, Renius
Lacbawan, Felicitas L.
Alagia, Damian P.
author_facet Guy, Carrie
Haji‐Sheikhi, Farnoosh
Rowland, Charles M.
Anderson, Ben
Owen, Renius
Lacbawan, Felicitas L.
Alagia, Damian P.
author_sort Guy, Carrie
collection PubMed
description BACKGROUND: We evaluated the performance of a cell‐free DNA (cfDNA) prenatal screening assay for trisomies 21, 18, and 13, and sex chromosome aneuploidies (SCAs) among a population of pregnant women that included both those at average and high risk. METHODS: Specimen collection, cfDNA extraction, massively parallel sequencing, and bioinformatics analysis were conducted per laboratory protocol. Assay results, concordance with pregnancy outcomes, and performance characteristics were evaluated. RESULTS: A total 75,658 specimens from 72,176 individual pregnant women were received. Technical reasons accounted for 288 (0.4% of all received samples) tests not performed. In the final analysis cohort (N = 69,794), 13% of pregnancies were considered at average risk and 87% at high risk. Mean gestational age at specimen collection was 15.1 weeks. Of the 69,794 unique pregnancies, 1,359 (1.9%) had positive test results. Among the results with confirmed outcomes, PPV for trisomies 21, 18, and 13 was 98.1%, 88.2%, and 59.3%, respectively; the PPV was 69.0% for SCAs and 75.0% for microdeletions. Overall, PPV was 87.2%, sensitivity was 97.9%, and specificity was 99.9%. CONCLUSION: This cfDNA prenatal screening assay provides highly accurate discrimination between affected and unaffected pregnancies among a population of pregnant women at average and high risk for fetal genetic abnormalities.
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spelling pubmed-64183672019-03-27 Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory Guy, Carrie Haji‐Sheikhi, Farnoosh Rowland, Charles M. Anderson, Ben Owen, Renius Lacbawan, Felicitas L. Alagia, Damian P. Mol Genet Genomic Med Original Articles BACKGROUND: We evaluated the performance of a cell‐free DNA (cfDNA) prenatal screening assay for trisomies 21, 18, and 13, and sex chromosome aneuploidies (SCAs) among a population of pregnant women that included both those at average and high risk. METHODS: Specimen collection, cfDNA extraction, massively parallel sequencing, and bioinformatics analysis were conducted per laboratory protocol. Assay results, concordance with pregnancy outcomes, and performance characteristics were evaluated. RESULTS: A total 75,658 specimens from 72,176 individual pregnant women were received. Technical reasons accounted for 288 (0.4% of all received samples) tests not performed. In the final analysis cohort (N = 69,794), 13% of pregnancies were considered at average risk and 87% at high risk. Mean gestational age at specimen collection was 15.1 weeks. Of the 69,794 unique pregnancies, 1,359 (1.9%) had positive test results. Among the results with confirmed outcomes, PPV for trisomies 21, 18, and 13 was 98.1%, 88.2%, and 59.3%, respectively; the PPV was 69.0% for SCAs and 75.0% for microdeletions. Overall, PPV was 87.2%, sensitivity was 97.9%, and specificity was 99.9%. CONCLUSION: This cfDNA prenatal screening assay provides highly accurate discrimination between affected and unaffected pregnancies among a population of pregnant women at average and high risk for fetal genetic abnormalities. John Wiley and Sons Inc. 2019-01-31 /pmc/articles/PMC6418367/ /pubmed/30706702 http://dx.doi.org/10.1002/mgg3.545 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Guy, Carrie
Haji‐Sheikhi, Farnoosh
Rowland, Charles M.
Anderson, Ben
Owen, Renius
Lacbawan, Felicitas L.
Alagia, Damian P.
Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title_full Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title_fullStr Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title_full_unstemmed Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title_short Prenatal cell‐free DNA screening for fetal aneuploidy in pregnant women at average or high risk: Results from a large US clinical laboratory
title_sort prenatal cell‐free dna screening for fetal aneuploidy in pregnant women at average or high risk: results from a large us clinical laboratory
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418367/
https://www.ncbi.nlm.nih.gov/pubmed/30706702
http://dx.doi.org/10.1002/mgg3.545
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