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Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience
OBJECTIVE: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigat...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081621/ https://www.ncbi.nlm.nih.gov/pubmed/32188487 http://dx.doi.org/10.1186/s13104-020-05009-1 |
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author | Margiotti, Katia Cesta, Anthony Dello Russo, Claudio Cima, Antonella Barone, Maria Antonietta Viola, Antonella Sparacino, Davide Mesoraca, Alvaro Giorlandino, Claudio |
author_facet | Margiotti, Katia Cesta, Anthony Dello Russo, Claudio Cima, Antonella Barone, Maria Antonietta Viola, Antonella Sparacino, Davide Mesoraca, Alvaro Giorlandino, Claudio |
author_sort | Margiotti, Katia |
collection | PubMed |
description | OBJECTIVE: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. RESULTS: NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47, XXX aneuploidy, 23.5% (4/17) were positive for 47, XXY aneuploidy, and 5.9% (1/17) were positive for 47, XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance. |
format | Online Article Text |
id | pubmed-7081621 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70816212020-03-23 Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience Margiotti, Katia Cesta, Anthony Dello Russo, Claudio Cima, Antonella Barone, Maria Antonietta Viola, Antonella Sparacino, Davide Mesoraca, Alvaro Giorlandino, Claudio BMC Res Notes Research Note OBJECTIVE: Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. RESULTS: NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47, XXX aneuploidy, 23.5% (4/17) were positive for 47, XXY aneuploidy, and 5.9% (1/17) were positive for 47, XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance. BioMed Central 2020-03-18 /pmc/articles/PMC7081621/ /pubmed/32188487 http://dx.doi.org/10.1186/s13104-020-05009-1 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Research Note Margiotti, Katia Cesta, Anthony Dello Russo, Claudio Cima, Antonella Barone, Maria Antonietta Viola, Antonella Sparacino, Davide Mesoraca, Alvaro Giorlandino, Claudio Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title | Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title_full | Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title_fullStr | Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title_full_unstemmed | Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title_short | Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience |
title_sort | cell-free dna screening for sex chromosomal aneuploidies in 9985 pregnancies: italian single experience |
topic | Research Note |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081621/ https://www.ncbi.nlm.nih.gov/pubmed/32188487 http://dx.doi.org/10.1186/s13104-020-05009-1 |
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