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Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia
Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fet...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889598/ https://www.ncbi.nlm.nih.gov/pubmed/33613643 http://dx.doi.org/10.3389/fgene.2021.630787 |
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author | Alyafee, Yusra Al Tuwaijri, Abeer Alam, Qamre Umair, Muhammad Haddad, Shahad Alharbi, Mashael Ballow, Maryam Al Drees, Mohammed AlAbdulrahman, Abdulkareem Al Khaldi, Aziza Alfadhel, Majid |
author_facet | Alyafee, Yusra Al Tuwaijri, Abeer Alam, Qamre Umair, Muhammad Haddad, Shahad Alharbi, Mashael Ballow, Maryam Al Drees, Mohammed AlAbdulrahman, Abdulkareem Al Khaldi, Aziza Alfadhel, Majid |
author_sort | Alyafee, Yusra |
collection | PubMed |
description | Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fetal (cffDNA) fraction and successful NIPT reporting. Methods: In total, 200 pregnant women were subjected to the NIPT test using standard methods. Next-generation sequencing (NGS) was used to analyze cffDNA in maternal plasma. Results: Out of the 200 NIPT cases, the average age of pregnant women was 35 ± 6 years (range: 21–48 years). The average cffDNA fraction of reported cases was 13.72% (range: 3–31%). Out of these 200 cases, 187 (93.5%) were at low risk, while 13 (6.5%) cases revealed high risk for aneuploidy. Among these chromosomal abnormalities, 7 (3.5%) cases of Down’s syndrome, 5 (2.5%) Edwards’ Syndrome, and only 1 case of (0.5%) Patau’s syndrome was observed. Out of the 13 high-risk cases, 2 (15.3%) were found in women below the age of 30. Conclusion: This is the first study reporting the successful implementation of an in-house NIPT screening service in Saudi Arabia. Our data showed high accuracy and sensitivity to detect high-risk cases indicating the usefulness of such a technique as an alternative to invasive testing and (hopefully) will change the common screening practice for pregnant women in Saudi Arabia. |
format | Online Article Text |
id | pubmed-7889598 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-78895982021-02-19 Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia Alyafee, Yusra Al Tuwaijri, Abeer Alam, Qamre Umair, Muhammad Haddad, Shahad Alharbi, Mashael Ballow, Maryam Al Drees, Mohammed AlAbdulrahman, Abdulkareem Al Khaldi, Aziza Alfadhel, Majid Front Genet Genetics Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practice and to assess factors influencing cell-free fetal (cffDNA) fraction and successful NIPT reporting. Methods: In total, 200 pregnant women were subjected to the NIPT test using standard methods. Next-generation sequencing (NGS) was used to analyze cffDNA in maternal plasma. Results: Out of the 200 NIPT cases, the average age of pregnant women was 35 ± 6 years (range: 21–48 years). The average cffDNA fraction of reported cases was 13.72% (range: 3–31%). Out of these 200 cases, 187 (93.5%) were at low risk, while 13 (6.5%) cases revealed high risk for aneuploidy. Among these chromosomal abnormalities, 7 (3.5%) cases of Down’s syndrome, 5 (2.5%) Edwards’ Syndrome, and only 1 case of (0.5%) Patau’s syndrome was observed. Out of the 13 high-risk cases, 2 (15.3%) were found in women below the age of 30. Conclusion: This is the first study reporting the successful implementation of an in-house NIPT screening service in Saudi Arabia. Our data showed high accuracy and sensitivity to detect high-risk cases indicating the usefulness of such a technique as an alternative to invasive testing and (hopefully) will change the common screening practice for pregnant women in Saudi Arabia. Frontiers Media S.A. 2021-02-04 /pmc/articles/PMC7889598/ /pubmed/33613643 http://dx.doi.org/10.3389/fgene.2021.630787 Text en Copyright © 2021 Alyafee, Al Tuwaijri, Alam, Umair, Haddad, Alharbi, Ballow, Al Drees, AlAbdulrahman, Al Khaldi and Alfadhel. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Alyafee, Yusra Al Tuwaijri, Abeer Alam, Qamre Umair, Muhammad Haddad, Shahad Alharbi, Mashael Ballow, Maryam Al Drees, Mohammed AlAbdulrahman, Abdulkareem Al Khaldi, Aziza Alfadhel, Majid Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title | Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title_full | Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title_fullStr | Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title_full_unstemmed | Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title_short | Next Generation Sequencing Based Non-invasive Prenatal Testing (NIPT): First Report From Saudi Arabia |
title_sort | next generation sequencing based non-invasive prenatal testing (nipt): first report from saudi arabia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7889598/ https://www.ncbi.nlm.nih.gov/pubmed/33613643 http://dx.doi.org/10.3389/fgene.2021.630787 |
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