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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...

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Autores principales: Chen, Juan, Xu, Jian, Chen, Zhi-Heng, Yin, Min-Na, Guo, Xin-Yu, Sun, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
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.
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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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