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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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.
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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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