ArticleFrontiers in reproductive health2025
Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation.
Article in Frontiers in reproductive health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To characterize a rare fetal complex chromosomal rearrangement (CCR) derived from a maternal balanced translocation using integrated G-banding and CNV-seq analysis. Methods: Integrated G-banding and CNV-seq enabled precise karyotypic determination in the fetus, with familial verification confirming its derivation. Results: Karyotype analysis confirmed that the pregnant woman was a carrier of a balanced translocation, 46,XX,t(10;13)(p15;q22), while her husband had a normal karyotype. Combined G-banding and CNV-seq analyses diagnosed the fetal karyotype as 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat, resulting from 3:1 meiotic segregation of the maternal balanced translocation. Conclusion: This case confirms the pivotal role of integrated G-banding and CNV-seq in diagnosing complex chromosomal rearrangements. For families with a high recurrence risk, PGT is a mandatory intervention to prevent subsequent adverse reproductive outcomes.
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