Exploration and Genetic Counseling of Using Multiple Genetic Techniques to Detect Derived Chromosomes in Prenatal Diagnosis

Ye Xia(Longhua District Maternal and Child Health Hospital)

Abstract

Purpose: Derivative chromosomes, resulting from complex structural rearrangements, pose significant challenges in prenatal diagnosis due to their unpredictable inheritance patterns and potential phenotypic consequences. This study evaluates the efficacy of multiple genetic technologies—including karyotyping, fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), and next-generation sequencing (NGS)—in detecting and characterizing derivative chromosomes in prenatal samples. methodology: We analyzed 150 cases of suspected chromosomal abnormalities, comparing detection rates, resolution, and clinical utility across these methods. Results: Our findings demonstrate that integrated multi-technology approaches significantly improve diagnostic accuracy, with NGS-based structural variation analysis achieving the highest detection sensitivity (99.2%) for cryptic rearrangements. Conclusions: Additionally, long-read sequencing (PacBio/Oxford Nanopore) enabled precise breakpoint mapping in 92% of cases, facilitating more accurate genetic counseling. Clinically, this approach enhances risk assessment for fetal anomalies, guides pregnancy management, and improves parental counseling for recurrence risks.

Keywords

Derivative chromosomes; Prenatal diagnosis; Karyotyping; FISH; CMA; NGS; Genetic counseling

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DOI: http://dx.doi.org/10.26549/jams.v8i1.24436