梧州地区21-三体综合征患者的细胞遗传学研究

Cytogengetic study on patients with trisomy-21 syndrome in Wuzhou area

目的研究梧州地区21-三体综合征患者染色体核型分布及其特点。方法采用羊水培养与G显带法对2010年1月至2017年12月有产前诊断指征的孕妇行产前诊断;对同期疑似患者行外周血培养与G显带进行核型分析。结果共确诊21-三体综合征167例,其中产前诊断确诊93例,外周血确诊74例,21-三体型为96.40%(161/167),嵌合型为2.40%(4/167),易位型为1.20%(2/167);21-三体患者中男女比为1.35∶1.00;产前诊断确诊为21-三体综合征胎儿的孕妇66.67%为高龄(≥35岁),出生后的唐氏儿70.27%在1岁前被检出。结论梧州地区21-三体综合征患者的染色体核型以21-三体型为主,男性明显高于女性。产前诊断对降低21-三体综合征患儿的出生起主要的作用,现行的产前筛查和产前诊断工作需进一步巩固和加强。

Objective To study the karyotype distribution and characteristics of the patients with trisomy-21 syndrome in Wuzhou area.Methods The amniotic fluid culture and G-banding pattern methods were used to conduct the prenatal diagnosis in pregnant women with prenatal indicator from January 2010 to December 2017.Contemporaneous suspected patients conducted the peripheral blood culture and G-banding pattern for performing karyotyping analysis.Results A total of 167 cases of trisomy-21 syndrome were diagnosed,including 93 cases of prenatal diagnosis and 74 cases of definite diagnosis by peripheral blood,trisome-21 type accounted for 96.40%(161/167),chimeric type accounted for 2.40%(4/167)and translocation type accounted for 1.20%(2/167);among the patients with trisomy-21 syndrome,the ratio of male to female was 1.35∶1.00;66.67%of pregnant women diagnosed as trisomy-21 syndrome fetus were the advanced age(≥35 years old).70.27%of postnatal Down′s children were detected out before 1 year old.Conclusion The karyotype among the patients with trisomy-21 syndrome in Wuzhou area is dominated by the trisomy-21 type.Male is significantly higher than female.The prenatal diagnosis plays a major role in reducing the birth of children with trisomy-21 syndrome.The current prenatal screening and prenatal diagnosis work should be further consolidated and strengthened.