摘要
目的 分析四川宜宾地区羊水染色体核型分布情况,探讨羊水染色体核型异常种类及不同产前诊断指征的异常核型检出状况.方法 对2014年1月至2018年8月来我院做产前诊断的4500例孕妇行羊膜腔穿刺术,并进行羊水细胞培养染色体核型分析.结果 4500例孕妇羊水细胞培养共检出染色体异常核型143例,异常检出率为3.18%.其中,染色体数目异常116例,占比81.12%;染色体结构异常27例(18.88%).数目异常和结构异常检出率差异具有统计学意义(χ2=237.54,P<0.05).不同产前诊断指征下异常核型检出情况不同,具体为:高龄孕妇共1590例,占比35.33%,其中异常核型70例,检出率为4.40%;血清学筛查高风险或临界风险共2602例,占比57.82%,其中异常核型61例,检出率为2.34%;产前超声示胎儿发育异常共53例,占比1.18%,其中异常核型1例,检出率为1.89%;曾有过不良孕产史共70例,占比1.56%,其中异常核型3例,检出率为4.29%;夫妇一方染色体异常共18例,占比0.40%,其中异常核型7例,检出率为38.89%;无产前诊断指征而自愿要求者共167例,占比3.71%,其中异常核型1例,检出率为0.60%.各类指征核型异常检出率差异具有统计学意义(χ2=361.87,P<0.05).结论 行羊膜腔穿刺术的孕妇主要产前诊断指征为高龄及血清学筛查高风险或临界风险,而产前诊断指征为夫妇一方染色体异常的,其胎儿的羊水染色体核型异常率最高.凡具备产前诊断指征的孕妇都应该进行羊水细胞培养染色体核型分析,以尽早检出染色体异常患儿,从而防止出生缺陷,达到优生优育,提高人口素质.
Objective To analyze distribution of chromosome karyotypes in amniotic fluid of pregnant women in Yibin city,Sichuan province,and to explore types of abnormal karyotypes in amniotic fluid and detection rate of abnormal karyotypes in different prenatal diagnosis indications.Methods 4500 pregnant women who were made prenatal diagnosis in our hospital from January 2014 to August 2018 underwent amniocentesis,and amniotic fluid cell culture and karyotype analysis were performed.Results Among 4500 pregnant women,143 cases of chromosome abnormal karyotype following amniotic fluid cell culture were found and the abnormal karyotype detection rate was 3.18%.Of which,116 cases had chromosome number abnormality(accounting for 81.12%)and 27 cases had chromosome structural abnormality(accounting for 18.88%).The difference in the detection rate of abnormal karyotype between chromosome number abnormality and structural abnormality was statistically significant(χ~2=237.54,P<0.05).The detection rate of abnormal karyotype under different indications of prenatal diagnosis was different.In detail,there were 1590 elderly pregnant women(accounting for 35.33%),among them,70 pregnant women had abnormal karyotypes and the detection rate was 4.40%.2602 pregnant women had high or critical risks of chromosome abnormality in serological screening(accounting for 57.82%),among them,61 pregnant women had abnormal karyotypes and the detection rate was 2.34%.The prenatal ultrasonography showed fetal dysplasia in 53 cases,accounting for 1.18%,among them,1 case had abnormal karyotype and the detection rate was 1.89%.70 cases had adverse pregnancy or delivery history,accounting for 1.56%,among them,3 cases had abnormal karyotypes and the detection rate was 4.29%.18 cases of chromosome abnormality were found in one side of the couple(wife or husband),accounting for 0.40%,among them,7 cases had abnormal karyotypes and the detection rate was 38.89%.167 cases voluntarily requested to undergo chromosome karyotype analysis without any indication of prenatal diagnosis,accounting for 3.71%,among them,1 case had abnormal karyotype and the detection rate was 0.60%.There were statistically significant differences in the detection rates of karyotype abnormalities under various prenatal diagnosis indications(χ~2=361.87,P<0.05).Conclusion The main prenatal diagnosis indications of the pregnant women undergoing amniocentesis are elderly maternal age and high or critical risks of chromosome abnormality in serological screening.In case of one side of the couple having chromosome abnormality,the detection rate of abnormal karyotype in amniotic fluid of the fetus is the highest.So,those pregnant women who have prenatal diagnosis indications should undergo amniotic fluid cell culture and chromosome karyotype analysis to identify those fetuses with chromosome abnormalities early,so as to prevent birth defects,achieve aristogenesis and improve quality of the population.
作者
张林琳
施绍瑞
代云才
ZHANG Linlin;SHI Shaorui;DAI Yuncai(Genetic Laboratory,The Second Yibin Municipal People's Hos pital,Sichuan Yibin 644000,China)
出处
《中国妇幼健康研究》
2020年第7期928-932,共5页
Chinese Journal of Woman and Child Health Research
关键词
羊水染色体
核型分析
产前诊断指征
高龄孕妇
amniotic fluid chromosome
karyotype analysis
prenatal diagnosis indication
elderly pregnant woman
