Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Margiotti, Katia, Cesta, Anthony, Dello Russo, Claudio, Cima, Antonella, Barone, Maria Antonietta, Viola, Antonella, Sparacino, Davide, Mesoraca, Alvaro, Giorlandino, Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
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
_version_ 1783508207437611008
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
work_keys_str_mv AT margiottikatia cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT cestaanthony cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT dellorussoclaudio cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT cimaantonella cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT baronemariaantonietta cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT violaantonella cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT sparacinodavide cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT mesoracaalvaro cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience
AT giorlandinoclaudio cellfreednascreeningforsexchromosomalaneuploidiesin9985pregnanciesitaliansingleexperience