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Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism case...

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Autores principales: Iordanescu, Irina Ioana, Neacsu, Anca Teodora, Catana, Andreea, Barabas-CuzmicI, Zina, Suciu, Viorel, Dragomir, Cristina, Voicu, Diana Elena, Severin, Emilia, Militaru, Mariela Sanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684745/
https://www.ncbi.nlm.nih.gov/pubmed/38034493
http://dx.doi.org/10.3389/fgene.2023.1258752
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author Iordanescu, Irina Ioana
Neacsu, Anca Teodora
Catana, Andreea
Barabas-CuzmicI, Zina
Suciu, Viorel
Dragomir, Cristina
Voicu, Diana Elena
Severin, Emilia
Militaru, Mariela Sanda
author_facet Iordanescu, Irina Ioana
Neacsu, Anca Teodora
Catana, Andreea
Barabas-CuzmicI, Zina
Suciu, Viorel
Dragomir, Cristina
Voicu, Diana Elena
Severin, Emilia
Militaru, Mariela Sanda
author_sort Iordanescu, Irina Ioana
collection PubMed
description Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition. Methods: In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12. We utilized advanced genetic testing techniques, including SNP array, to examine the chromosomal abnormalities in these cases. We compared the results from SNP array to conventional G band karyotyping to assess the utility of first-tier prenatal testing methods. Results:Our analysis revealed two cases of tetraploidy/diploidy and trisomy 12 with atypical presentations. SNP array analysis provided higher resolution and more precise information about the chromosomal anomalies in these cases compared to conventional G band karyotyping. Additionally, the prevalence of tetraploidy/diploidy mosaicism was confirmed to be extremely rare in the population. Discussion: Low-level mosaicism is difficult to diagnose, and in many cases, it has traditionally been identified through techniques such as G band karyotype or FISH. Microarray has become an invaluable diagnostic tool for detecting chromosomal abnormalities, offering high-resolution insights. However, it may not always be able to detect rare occurrences of tetraploidy or tetraploidy/diploidy mosaicism. As a result, it is recommended to perform a G band karyotype analysis after obtaining a negative microarray result before considering other diagnostic methods with a potentially higher yield of diagnosis. For the detection of low-level mosaicism, combined diagnostic methods should be considered. The diagnosis of mosaicism is a multistep process that can be time-consuming, often requiring the application of more than one diagnostic technique. This approach is crucial for accurate diagnosis and comprehensive patient care. Further research is warranted to better understand the underlying mechanisms of these rare chromosomal anomalies and to develop more effective diagnostic strategies for challenging cases.
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spelling pubmed-106847452023-11-30 Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods Iordanescu, Irina Ioana Neacsu, Anca Teodora Catana, Andreea Barabas-CuzmicI, Zina Suciu, Viorel Dragomir, Cristina Voicu, Diana Elena Severin, Emilia Militaru, Mariela Sanda Front Genet Genetics Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome. The prevalence of tetraploidy/diploidy mosaicism cases is extremely rare in the human population. Accurate estimates of the frequency of this chromosomal anomaly are lacking due to its classification as an extremely rare and difficult-to-detect condition. Methods: In this report, we describe two cases involving challenging diagnoses of tetraploidy/diploidy and trisomy 12. We utilized advanced genetic testing techniques, including SNP array, to examine the chromosomal abnormalities in these cases. We compared the results from SNP array to conventional G band karyotyping to assess the utility of first-tier prenatal testing methods. Results:Our analysis revealed two cases of tetraploidy/diploidy and trisomy 12 with atypical presentations. SNP array analysis provided higher resolution and more precise information about the chromosomal anomalies in these cases compared to conventional G band karyotyping. Additionally, the prevalence of tetraploidy/diploidy mosaicism was confirmed to be extremely rare in the population. Discussion: Low-level mosaicism is difficult to diagnose, and in many cases, it has traditionally been identified through techniques such as G band karyotype or FISH. Microarray has become an invaluable diagnostic tool for detecting chromosomal abnormalities, offering high-resolution insights. However, it may not always be able to detect rare occurrences of tetraploidy or tetraploidy/diploidy mosaicism. As a result, it is recommended to perform a G band karyotype analysis after obtaining a negative microarray result before considering other diagnostic methods with a potentially higher yield of diagnosis. For the detection of low-level mosaicism, combined diagnostic methods should be considered. The diagnosis of mosaicism is a multistep process that can be time-consuming, often requiring the application of more than one diagnostic technique. This approach is crucial for accurate diagnosis and comprehensive patient care. Further research is warranted to better understand the underlying mechanisms of these rare chromosomal anomalies and to develop more effective diagnostic strategies for challenging cases. Frontiers Media S.A. 2023-11-15 /pmc/articles/PMC10684745/ /pubmed/38034493 http://dx.doi.org/10.3389/fgene.2023.1258752 Text en Copyright © 2023 Iordanescu, Neacsu, Catana, Barabas-CuzmicI, Suciu, Dragomir, Voicu, Severin and Militaru. https://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
Iordanescu, Irina Ioana
Neacsu, Anca Teodora
Catana, Andreea
Barabas-CuzmicI, Zina
Suciu, Viorel
Dragomir, Cristina
Voicu, Diana Elena
Severin, Emilia
Militaru, Mariela Sanda
Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title_full Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title_fullStr Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title_full_unstemmed Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title_short Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
title_sort challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684745/
https://www.ncbi.nlm.nih.gov/pubmed/38034493
http://dx.doi.org/10.3389/fgene.2023.1258752
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