| 英文摘要 |
Chromosomal analysis is a foundational laboratory technique that examines the number, structure, and arrangement of an individual’s chromosomes to diagnose and understand genetic diseases. This retrospective study provides a comprehensive overview of the indications for testing and the frequency of chromosomal abnormalities in a cohort of 2,187 prenatal cases. We evaluated the indications for amniocentesis and subsequent karyotype results. Advanced maternal age (AMA) was the most common indication, followed by ultrasound abnormalities and high-risk Down syndrome screening results (probability≧1/270). A total of 2,187 amniocentesis cases were analyzed, revealing a 1.6% (36/2,187) of chromosomal abnormalities. Numerical abnormalities constituting the majority (61.1%), with trisomies—particularly trisomy 21—being the most frequently observed. Among structural abnormalities, inversions were the most common. The study also suggested potential gender differences: females showed a higher incidence of numerical chromosome abnormalities, while males exhibited more frequent structural chromosome rearrangements. These findings underscore the critical role of karyotype analysis in diagnosing chromosomal disorders and guiding appropriate clinical management. |
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