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Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports
BACKGROUND: Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. METHODS: A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases i...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454120/ https://www.ncbi.nlm.nih.gov/pubmed/34544454 http://dx.doi.org/10.1186/s13039-021-00559-w |
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author | Peng, Haishan Yang, Jiexia Wang, Dongmei Guo, Fangfang Hou, Yaping Yin, Aihua |
author_facet | Peng, Haishan Yang, Jiexia Wang, Dongmei Guo, Fangfang Hou, Yaping Yin, Aihua |
author_sort | Peng, Haishan |
collection | PubMed |
description | BACKGROUND: Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. METHODS: A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. CASE REPORTS: NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. CONCLUSION: NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery. |
format | Online Article Text |
id | pubmed-8454120 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-84541202021-09-21 Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports Peng, Haishan Yang, Jiexia Wang, Dongmei Guo, Fangfang Hou, Yaping Yin, Aihua Mol Cytogenet Case Report BACKGROUND: Trisomy 16 (T16) is thought to be the most frequent chromosome abnormality at conception, which is often associated with a high risk of abnormal outcomes. METHODS: A retrospective analysis of 14 cases with high risk of T16 by noninvasive prenatal testing (NIPT) was conducted. All cases in the analysis involved prenatal diagnosis, karyotyping and chromosomal microarray analysis. CASE REPORTS: NIPT detected 12 cases of T16 and 2 cases of T16 mosaicism. Prenatal diagnosis confirmed 5 true positive cases and 9 false positive cases. Among the 5 true positive cases, 3 cases had ultrasound abnormalities. All of the 9 false positive cases continued their pregnancies. The newborns who were from these 9 false positive cases except 1 case (case 7) had low birth weights (< 2.5 kg) and there were also 2 premature deliveries. CONCLUSION: NIPT serves as a fast and early prenatal screening method, giving clues to chromosome abnormalities and providing guidance for managing pregnancy. Confined placental mosaicism in 16 pregnancies may be at higher risk for preterm delivery. BioMed Central 2021-09-20 /pmc/articles/PMC8454120/ /pubmed/34544454 http://dx.doi.org/10.1186/s13039-021-00559-w Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://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 | Case Report Peng, Haishan Yang, Jiexia Wang, Dongmei Guo, Fangfang Hou, Yaping Yin, Aihua Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title_full | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title_fullStr | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title_full_unstemmed | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title_short | Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports |
title_sort | outcomes of pregnancies with trisomy 16 mosaicism detected by nipt: a series of case reports |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454120/ https://www.ncbi.nlm.nih.gov/pubmed/34544454 http://dx.doi.org/10.1186/s13039-021-00559-w |
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