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Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploi...

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Autores principales: Li, Lingping, Liu, Xijing, Li, Qinqin, Zhang, Lili, Xiong, Yueyue, Liu, Shanling, Wang, He, Zhu, Hongmei, Zhang, Xuemei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277675/
https://www.ncbi.nlm.nih.gov/pubmed/37342772
http://dx.doi.org/10.3389/fgene.2023.1165019
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author Li, Lingping
Liu, Xijing
Li, Qinqin
Zhang, Lili
Xiong, Yueyue
Liu, Shanling
Wang, He
Zhu, Hongmei
Zhang, Xuemei
author_facet Li, Lingping
Liu, Xijing
Li, Qinqin
Zhang, Lili
Xiong, Yueyue
Liu, Shanling
Wang, He
Zhu, Hongmei
Zhang, Xuemei
author_sort Li, Lingping
collection PubMed
description Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection. Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X. Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities.
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spelling pubmed-102776752023-06-20 Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples Li, Lingping Liu, Xijing Li, Qinqin Zhang, Lili Xiong, Yueyue Liu, Shanling Wang, He Zhu, Hongmei Zhang, Xuemei Front Genet Genetics Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid. Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection. Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X. Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities. Frontiers Media S.A. 2023-06-05 /pmc/articles/PMC10277675/ /pubmed/37342772 http://dx.doi.org/10.3389/fgene.2023.1165019 Text en Copyright © 2023 Li, Liu, Li, Zhang, Xiong, Liu, Wang, Zhu and Zhang. 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
Li, Lingping
Liu, Xijing
Li, Qinqin
Zhang, Lili
Xiong, Yueyue
Liu, Shanling
Wang, He
Zhu, Hongmei
Zhang, Xuemei
Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title_full Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title_fullStr Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title_full_unstemmed Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title_short Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
title_sort case report: prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10277675/
https://www.ncbi.nlm.nih.gov/pubmed/37342772
http://dx.doi.org/10.3389/fgene.2023.1165019
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