Cargando…
Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication
The present study aimed to estimate the clinical performance of non‐invasive prenatal testing (NIPT) based on high‐throughput sequencing method for the detection of foetal chromosomal deletions and duplications. A total of 6348 pregnant women receiving NIPT using high‐throughput sequencing method we...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520324/ https://www.ncbi.nlm.nih.gov/pubmed/32667743 http://dx.doi.org/10.1111/jcmm.15593 |
_version_ | 1783587762639732736 |
---|---|
author | Wu, Yueli Zhang, Linlin Lv, Hong Li, Ying Zhu, Chongyang Tian, Weifang Zhao, Ling |
author_facet | Wu, Yueli Zhang, Linlin Lv, Hong Li, Ying Zhu, Chongyang Tian, Weifang Zhao, Ling |
author_sort | Wu, Yueli |
collection | PubMed |
description | The present study aimed to estimate the clinical performance of non‐invasive prenatal testing (NIPT) based on high‐throughput sequencing method for the detection of foetal chromosomal deletions and duplications. A total of 6348 pregnant women receiving NIPT using high‐throughput sequencing method were included in our study. They all conceived naturally, without twins, triplets or multiple births. Individuals showing abnormalities in NIPT received invasive ultrasound‐guided amniocentesis for chromosomal karyotype and microarray analysis at 18‐24 weeks of pregnancy. Detection results of foetal chromosomal deletions and duplications were compared between high‐throughput sequencing method and chromosomal karyotype and microarray analysis. Thirty‐eight individuals were identified to show 51 chromosomal deletions/duplications via high‐throughput sequencing method. In subsequent chromosomal karyotype and microarray analysis, 34 subchromosomal deletions/duplications were identified in 26 pregnant women. The observed deletions and duplications ranged from 1.05 to 17.98 Mb. Detection accuracy for these deletions and duplications was 66.7%. Twenty‐one deletions and duplications were found to be correlated with the known abnormalities. NIPT based on high‐throughput sequencing technique is able to identify foetal chromosomal deletions and duplications, but its sensitivity and specificity were not explored. Further progress should be made to reduce false‐positive results. |
format | Online Article Text |
id | pubmed-7520324 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75203242020-09-30 Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication Wu, Yueli Zhang, Linlin Lv, Hong Li, Ying Zhu, Chongyang Tian, Weifang Zhao, Ling J Cell Mol Med Original Articles The present study aimed to estimate the clinical performance of non‐invasive prenatal testing (NIPT) based on high‐throughput sequencing method for the detection of foetal chromosomal deletions and duplications. A total of 6348 pregnant women receiving NIPT using high‐throughput sequencing method were included in our study. They all conceived naturally, without twins, triplets or multiple births. Individuals showing abnormalities in NIPT received invasive ultrasound‐guided amniocentesis for chromosomal karyotype and microarray analysis at 18‐24 weeks of pregnancy. Detection results of foetal chromosomal deletions and duplications were compared between high‐throughput sequencing method and chromosomal karyotype and microarray analysis. Thirty‐eight individuals were identified to show 51 chromosomal deletions/duplications via high‐throughput sequencing method. In subsequent chromosomal karyotype and microarray analysis, 34 subchromosomal deletions/duplications were identified in 26 pregnant women. The observed deletions and duplications ranged from 1.05 to 17.98 Mb. Detection accuracy for these deletions and duplications was 66.7%. Twenty‐one deletions and duplications were found to be correlated with the known abnormalities. NIPT based on high‐throughput sequencing technique is able to identify foetal chromosomal deletions and duplications, but its sensitivity and specificity were not explored. Further progress should be made to reduce false‐positive results. John Wiley and Sons Inc. 2020-07-15 2020-09 /pmc/articles/PMC7520324/ /pubmed/32667743 http://dx.doi.org/10.1111/jcmm.15593 Text en © 2020 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd 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 Wu, Yueli Zhang, Linlin Lv, Hong Li, Ying Zhu, Chongyang Tian, Weifang Zhao, Ling Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title | Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title_full | Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title_fullStr | Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title_full_unstemmed | Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title_short | Applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
title_sort | applying high‐throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520324/ https://www.ncbi.nlm.nih.gov/pubmed/32667743 http://dx.doi.org/10.1111/jcmm.15593 |
work_keys_str_mv | AT wuyueli applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT zhanglinlin applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT lvhong applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT liying applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT zhuchongyang applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT tianweifang applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication AT zhaoling applyinghighthroughputsequencingtoidentifyandevaluatefoetalchromosomaldeletionandduplication |