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

Content Provider	Springer Nature : BioMed Central
Author	Chen, Lin Wang, Li Zeng, Yang Yin, Daishu Tang, Feng Xie, Dan Zhu, Hongmei Li, Lingping Wang, Jing
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.
Related Links	https://bmcpregnancychildbirth.biomedcentral.com/counter/pdf/10.1186/s12884-024-06321-5.pdf
Ending Page	6
Page Count	6
Starting Page	1
File Format	HTM / HTML
ISSN	14712393
DOI	10.1186/s12884-024-06321-5
Journal	BMC Pregnancy and Childbirth
Issue Number	1
Volume Number	24
Language	English
Publisher	BioMed Central
Publisher Date	2024-02-12
Access Restriction	Open
Subject Keyword	Reproductive Medicine Maternal and Child Health Gynecology Chimerism Short tandem repeat Prenatal diagnosis
Content Type	Text
Resource Type	Case study
Subject	Obstetrics and Gynecology
Journal Impact Factor	2.8/2023
5-Year Journal Impact Factor	3.4/2023

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