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Open Access 01-12-2024 | Amniocentesis | Case Report

A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism

Authors: Lin Chen, Li Wang, Yang Zeng, Daishu Yin, Feng Tang, Dan Xie, Hongmei Zhu, Lingping Li, Jing Wang

Published in: BMC Pregnancy and Childbirth | Issue 1/2024

Abstract

Chimerism results from the fusion of two zygotes in a single embryo, whereas mosaicism results from mitotic errors in a single zygote. True human chimerism is rare, with fewer than 100 cases reported in the literature. Here, we report a case in which the fetus was identified as having tetragametic chimerism based on short tandem repeat - polymerase chain reaction analysis of the family observed during amniocentesis for advanced maternal age. The chimerism occurred via the fertilization of two ova by two spermatozoa, followed by the fusion of early embryos. The genotypes of the two amniotic fluid samples obtained successively by one puncture were completely different, and the sex chromosomes were XY. Karyotyping and copy number variation sequencing showed no abnormalities. The fetus was delivered at term and the phenotype of the newborn was normal.

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Title: A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism
Authors: Lin Chen
Li Wang
Yang Zeng
Daishu Yin
Feng Tang
Dan Xie
Hongmei Zhu
Lingping Li
Jing Wang
Publication date: 01-12-2024
Publisher: BioMed Central
Keyword: Amniocentesis
Published in: BMC Pregnancy and Childbirth / Issue 1/2024
Electronic ISSN: 1471-2393
DOI: https://doi.org/10.1186/s12884-024-06321-5

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A prenatal case misunderstood as specimen confusion: 46,XY/46,XY chimerism

Abstract

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