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

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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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