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Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins
Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These re...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641794/ https://www.ncbi.nlm.nih.gov/pubmed/34868215 http://dx.doi.org/10.3389/fgene.2021.744890 |
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author | Chen, Juan Xu, Jian Chen, Zhi-Heng Yin, Min-Na Guo, Xin-Yu Sun, Ling |
author_facet | Chen, Juan Xu, Jian Chen, Zhi-Heng Yin, Min-Na Guo, Xin-Yu Sun, Ling |
author_sort | Chen, Juan |
collection | PubMed |
description | Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported. In this case study, we report a case of chimerism in opposite-sex MCDZ twins who were naturally conceived and have reached reproductive maturity. We collected oral mucosal, endometrial, and germ cells from the twins and evaluated their chimerism using single-nucleotide polymorphism (SNP) array and droplet digital PCR (ddPCR). The SNP array showed that they had 4,049 non-allele shared loci, and they inherited nearly 50% informative SNP loci from each parent, confirming that they are dizygotic twins. We found that the female twin had a 46, XX (2)/46, XY (78) karyotype in her peripheral blood. The SNP array confirmed that the female twin and male twin had the same blood haplotype. The ddPCR result showed 92.84 (± 1.80%) chimerism in her blood. In case of chimerism in her germline, the female twin chose preimplantation genetic testing for aneuploidy for her blastocysts. Fortunately, the patient only had blood chimerism. A healthy boy was born at 39 weeks of gestation. |
format | Online Article Text |
id | pubmed-8641794 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-86417942021-12-04 Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins Chen, Juan Xu, Jian Chen, Zhi-Heng Yin, Min-Na Guo, Xin-Yu Sun, Ling Front Genet Genetics Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported. In this case study, we report a case of chimerism in opposite-sex MCDZ twins who were naturally conceived and have reached reproductive maturity. We collected oral mucosal, endometrial, and germ cells from the twins and evaluated their chimerism using single-nucleotide polymorphism (SNP) array and droplet digital PCR (ddPCR). The SNP array showed that they had 4,049 non-allele shared loci, and they inherited nearly 50% informative SNP loci from each parent, confirming that they are dizygotic twins. We found that the female twin had a 46, XX (2)/46, XY (78) karyotype in her peripheral blood. The SNP array confirmed that the female twin and male twin had the same blood haplotype. The ddPCR result showed 92.84 (± 1.80%) chimerism in her blood. In case of chimerism in her germline, the female twin chose preimplantation genetic testing for aneuploidy for her blastocysts. Fortunately, the patient only had blood chimerism. A healthy boy was born at 39 weeks of gestation. Frontiers Media S.A. 2021-11-19 /pmc/articles/PMC8641794/ /pubmed/34868215 http://dx.doi.org/10.3389/fgene.2021.744890 Text en Copyright © 2021 Chen, Xu, Chen, Yin, Guo and Sun. 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 Chen, Juan Xu, Jian Chen, Zhi-Heng Yin, Min-Na Guo, Xin-Yu Sun, Ling Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title | Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title_full | Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title_fullStr | Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title_full_unstemmed | Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title_short | Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins |
title_sort | case report: identification of germline chimerism in monochorionic dizygotic twins |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8641794/ https://www.ncbi.nlm.nih.gov/pubmed/34868215 http://dx.doi.org/10.3389/fgene.2021.744890 |
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