1986~2022年广西梧州地区遗传咨询者细胞遗传学检测结果及变化分析

Analysis of Cytogenetic Test Results and Changes of Genetic Counselors During 1986~2022 in Guangxi Wuzhou Area

目的探讨梧州地区遗传咨询者染色体异常与临床表型的关系及异常核型分布与变化的特点。方法选取1986年1月~2022年10月前来梧州市工人医院进行遗传咨询的4346例患者,通过外周血淋巴细胞培养及G显带法对染色体核型进行分析,并分析Ⅰ阶段(1986~2019年),Ⅱ阶段(2020~2022年)异常核型的分布与变化的特点。结果4346例遗传咨询者中检出染色体异常304例,异常核型检出率6.99%,其中21三体检出率最高,为3.18%(138/4346),占所有异常核型的45.39%(138/304)。异常核型构成比依次为21三体、平衡易位、47,XXY,45,X,罗氏易位、染色体片段缺失/重复、47,XXX和倒位。此外,检出13三体3例,19三体1例,8三体1例,47,XN,+mar 5例,性染色体不一致嵌合7例,性反转7例。平衡易位、倒位的构成比在Ⅱ阶段(2020~2022年)分别为24.59%,8.20%,高于Ⅰ阶段(1986~2019年)的9.88%,0.82%;而21三体的构成比在Ⅱ阶段(2020~2022年)为14.75%,低于Ⅰ阶段(1986~2019年)的53.09%,两阶段比较,差异均具有统计学意义(χ^(2)=9.439,8.735,28.904,均P<0.05)。而47,XXY,45,X,罗氏易位等异常核型的构成比在两阶段间的比较,差异均无统计学意义(χ^(2)=0.192,0.000,1.313,均P>0.05)。在Ⅱ阶段(2020~2022年),常染色体数目异常及片段缺失/重复的患者在1岁之前被确诊占78.57%,高于Ⅰ阶段(1986~2019年)的63.38%,但两阶段比较,差异无统计学意义(χ^(2)=0.709,P=0.400)。在Ⅱ阶段(2020~2022年),性染色体异常的患者在12岁之前被确诊占27.78%,高于Ⅰ阶段(1986~2019年)的13.11%,但两阶段比较差异无统计学意义(χ^(2)=1.238,P=0.266)。结论梧州地区遗传咨询者中异常核型检出率较高,尤其是21三体。近三年21三体的构成比下降,平衡易位、倒位的构成比显著上升,核型异常患者的确诊年龄有提前趋势。染色体异常是导致该地区的遗传咨询者存在出生缺陷、生长发育迟缓及不良孕产史等症状的原因之一,对具有相应临床指征的患者行染色体核型分析具有重要临床意义。

Objective To explore the relationship between chromosomal abnormalities and clinical phenotypes and the distribution and changes of abnormal karyotypes in genetic counselors in Wuzhou area.Methods 4346 patients who came to Wuzhou Gongren Hospital for genetic counseling from January 1986 to October 2022 were selected to analyze the chromosome karyotype by peripheral blood lymphocyte culture and G-banding method,the distribution and changes of abnormal karyotypes in stageⅠ(1986~2019)and stageⅡ(2020~2022)were analyzed.Results Chromosomal abnormalities were detected in 304 cases among 4346 genetic counselors,and the detection rate of abnormal karyotype was 6.99%(138/4346),among which the detection rate of trisomy 21 was the highest at 3.18%(138/304),accounting for 45.39%of all abnormal karyotypes.The constituent ratio of abnormal karyotype was trisomy 21,balanced translocation,47,XXY,45,X,robertsonian translocation,chromosome deletion/duplication,47,XXX and inversion.In addition,there were 3 cases of trisomy 13,1 case of trisomy 19,1 case of trisomy 8,5 cases of 47XN+mar,7 cases of sex chromosome inconsistent mosaicism and 7 cases of sex reversal.The constituent ratio of balanced translocation and inversion was 24.59%and 8.20%in stageⅡ(2020~2022),which was higher than 9.88%and 0.82%in stage I(1986~2019).The constituent ratio of trisomy 21 in stageⅡ(2020~2022)was 14.75%,which was lower than 53.09%in stage I(1986~2019).The difference between the two stages was statistically significant(χ^(2)=9.439,8.735,28.904,all P<0.05).In contrast,the differences in the constituent ratio of abnormal karyotypes such as 47,XXY,45,X,and robertsonian translocation were not statistically significant between the two stages(χ^(2)=0.192,0.000,1.313,all P>0.05).In stage II(2020~2022),78.57%of patients with autosomal numerical abnormalities and fragment deletion/duplication were diagnosed before 1 year old,which was higher than 63.38%in stage I(1986~2019),but there was no significant difference between the two stages(χ^(2)=0.709,P=0.400).In stage II(2020~2022),27.78%of patients with abnormal sex chromosome were diagnosed before the age of 12,which was higher than 13.11%in stage I(1986~2019),but the difference between the two stages was not statistically significant(χ^(2)=1.238,P=0.266).Conclusion The detection rate of abnormal karyotype of genetic counselors in Wuzhou Area was high,especially trisomy 21.In the past three years,the constituent ratio of trisomy 21 decreased,the constituent ratio of balanced translocation and inversion increased significantly,and the age of diagnosis of patients with abnormal karyotype tended to advance.Chromosomal abnormality is one of the causes of birth defects,growth retardation and poor pregnancy history among genetic counselors in this area.It is of great clinical significance to analyze the chromosome karyotype of patients with corresponding clinical indications.