Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Lingping Li; Lingping Li; Lingping Li; Xijing Liu; Xijing Liu; Xijing Liu; Qinqin Li; Qinqin Li; Qinqin Li; Lili Zhang; Lili Zhang; Lili Zhang; Yueyue Xiong; Yueyue Xiong; Yueyue Xiong; Shanling Liu; Shanling Liu; Shanling Liu; He Wang; He Wang; He Wang; Hongmei Zhu; Hongmei Zhu; Hongmei Zhu; Xuemei Zhang; Xuemei Zhang; Xuemei Zhang

doi:10.3389/fgene.2023.1165019

Frontiers in Genetics (Jun 2023)

Case report: Prenatal diagnosis of rare chromosome mosaicism: discordant results between chorionic villi and amniotic fluid samples

Lingping Li,
Lingping Li,
Lingping Li,
Xijing Liu,
Xijing Liu,
Xijing Liu,
Qinqin Li,
Qinqin Li,
Qinqin Li,
Lili Zhang,
Lili Zhang,
Lili Zhang,
Yueyue Xiong,
Yueyue Xiong,
Yueyue Xiong,
Shanling Liu,
Shanling Liu,
Shanling Liu,
He Wang,
He Wang,
He Wang,
Hongmei Zhu,
Hongmei Zhu,
Hongmei Zhu,
Xuemei Zhang,
Xuemei Zhang,
Xuemei Zhang

Affiliations

Lingping Li: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Lingping Li: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Lingping Li: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Xijing Liu: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Xijing Liu: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Xijing Liu: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Qinqin Li: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Qinqin Li: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Qinqin Li: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Lili Zhang: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Lili Zhang: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Lili Zhang: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Yueyue Xiong: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Yueyue Xiong: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Yueyue Xiong: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Shanling Liu: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Shanling Liu: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Shanling Liu: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
He Wang: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
He Wang: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
He Wang: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Hongmei Zhu: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Hongmei Zhu: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Hongmei Zhu: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China
Xuemei Zhang: Department of Medical Genetics and Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
Xuemei Zhang: Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China
Xuemei Zhang: Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China

DOI: https://doi.org/10.3389/fgene.2023.1165019
Journal volume & issue: Vol. 14

Abstract

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Objective: We described a unique case of near-negative chromosome mosaicism in chorionic villi but complete monosomy X in amniotic fluid.Methods: Chorionic villus sampling and amniocentesis were performed separately in the first and second trimesters. Chromosomal microarray (CMA) and rapid aneuploidy detection (QF-PCR and FISH) were performed on placental villi and uncultured amniotic fluid. After pregnancy termination, the placenta, umbilical cord, and fetal muscle tissues were sampled for FISH detection.Results: The CMA revealed a lower signal from chromosome X in chorionic villi, with a copy number of 1.85, implying the presence of mosaic monosomy X. However, the QF-PCR and FISH results were nearly normal. In uncultured amniotic fluid, CMA and rapid aneuploidy detection indicated complete monosomy X. Across different sampling points on the aborted fetus, the FISH results varied from normal, to mosaic, and then complete monosomy X.Conclusion: This case presents a rare and complex situation where sampling from uncultured chorionic villi indicated low-level chromosome mosaicism, while sampling from amniotic fluid revealed complete monosomy X. Although some of these discordant outcomes may be due to methodological limitations, we conclude that prenatal consultation should be combined with fetal ultrasound phenotype and genetic testing for a comprehensive evaluation of fetal genetic abnormalities.

Published in Frontiers in Genetics

ISSN: 1664-8021 (Online)
Publisher: Frontiers Media S.A.
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://journal.frontiersin.org/journal/genetics

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