Abstract
Background: Karyotype analysis has been used in a clinical cytogenetic laboratory. A retrospective analysis of karyotype analysis in Meizhou area to provide valuable reference for clinical genetic counseling. A retrospective analysis of 5-year data of karyotype analysis from 5,289 peripheral blood samples and 2,882 fetuses between January 2015 and March 2020 in Meizhou area.Results: Chromosomal abnormalities were detected in a total of 392 peripheral blood samples, and the abnormality detection rate (ADR) was 7.41% (392/5,289). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, structural abnormalities and chromosome polymorphisms were 1.29% (68/5,289), 0.72% (38/5,289), 1.55% (82/5,289) and 3.86% (204/5,289). Among cases with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 27.04% (106/392), 20.92% (82/392) and 52.04% (204/392), respectively. There were statistically significant differences in the chromosomal abnormalities rate different types of patients. In addition, chromosomal abnormalities were detected in a total of 307 fetus samples, and the ADR was 10.65% (307/2,882). The ADR for sex chromosome aneuploidies, autosomal aneuploidies, triploid/tetraploid, structural abnormalities and chromosome polymorphisms were 1.70% (49/2,882), 5.45% (157/2,882), 0.14% (4/2,882), 1.39% (40/2,882) and 1.94% (56/2,882). Among fetuses with chromosomal abnormalities, numerical abnormalities, chromosomal structural abnormalities and chromosome polymorphism accounted for 68.40% (210/307), 13.03% (40/307) and 18.24% (56/307), respectively. The chromosomal abnormalities rate was higher than that in non-elderly pregnant women. Abnormal chromosome karyotype detection rate is higher in genetic counselors in Meizhou area.Conclusions: Karyotype analysis has great significance for clinical diagnosis, guide the healthy birth, and improve the quality of the population.