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:	Juan Chen, Jian Xu, Zhi-Heng Chen, Min-Na Yin, Xin-Yu Guo, Ling Sun
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	MCDZ twins tissues chimerism germ cell PGT-A ddPCR Genetics QH426-470
Acceso en línea:	https://doaj.org/article/b332c5e9ba9f4805a73adb548f5da967
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spelling	oai:doaj.org-article:b332c5e9ba9f4805a73adb548f5da9672021-11-19T06:43:33ZCase Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins1664-802110.3389/fgene.2021.744890https://doaj.org/article/b332c5e9ba9f4805a73adb548f5da9672021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.744890/fullhttps://doaj.org/toc/1664-8021Monochorionic 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.Juan ChenJian XuZhi-Heng ChenMin-Na YinXin-Yu GuoLing SunFrontiers Media S.A.articleMCDZ twinstissues chimerismgerm cellPGT-AddPCRGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	MCDZ twins tissues chimerism germ cell PGT-A ddPCR Genetics QH426-470
spellingShingle	MCDZ twins tissues chimerism germ cell PGT-A ddPCR Genetics QH426-470 Juan Chen Jian Xu Zhi-Heng Chen Min-Na Yin Xin-Yu Guo Ling Sun Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins
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	article
author	Juan Chen Jian Xu Zhi-Heng Chen Min-Na Yin Xin-Yu Guo Ling Sun
author_facet	Juan Chen Jian Xu Zhi-Heng Chen Min-Na Yin Xin-Yu Guo Ling Sun
author_sort	Juan Chen
title	Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins
title_short	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_sort	case report: identification of germline chimerism in monochorionic dizygotic twins
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/b332c5e9ba9f4805a73adb548f5da967
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Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins

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