308例不同产前诊断指征的羊水细胞染色体核型分析

Chromosome karyotype analysis on prenatal diagnosis of amniotic fluid cells in 308 cases with different indications

目的分析不同产前诊断指征与胎儿染色体异常的关系。方法回顾该院2015年10月至2017年12月共308例有产前诊断指征并行羊膜腔穿刺羊水细胞染色体核型分析的病例,总结不同产前诊断指征的异常核型检出情况,分析不同产前诊断指征与胎儿染色体异常的关系。结果 308例羊水标本中共检出染色体异常核型30例,其中包括染色体数目异常27例,结构异常3例,异常检出率为9.7%(30/308)。高龄妊娠、唐筛高风险、无创DNA高风险、超声异常及不良孕产史接受产前诊断孕妇中,染色体异常检出率分别为14.4%、6.3%、53.8%、3%和0。结论各种产前诊断指征均有各自的针对性及局限性,羊膜腔穿刺羊水细胞染色体核型分析不能被取代,各指征合理组合应用才能更好地进行产前诊断。

Objective To analysis the relationship between different prenatal diagnosis indications and fetal chromosomal abnormalities. Methods From October 2015 to December 2017,308 cases of amniotic fluid cell chromosome karyotype analysis with prenatal diagnosis indications were reviewed.The detection of abnormal karyotypes with different prenatal diagnosis indications was summarized and the relationship between different prenatal diagnosis indications and fetal chromosome abnormalities was analyzed. Results Among 308 amniotic fluid samples,30 cases were found to have abnormal karyotypes,including 27 cases with abnormal chromosome number and 3 cases with abnormal structure.Among the pregnant women with advanced maternal age,Down′s screening high risk and NIPT high risk and ultrasonic anomaly and the histories of abnormal pregnancy group,the incidence rates of chromosomal abnormalities were 14.4%,6.3%,53.8%,3% and 0 respectively. Conclusion All kinds of prenatal diagnosis indicators have their own pertinence and limitations,amniocentesis amniotic fluid cell karyotype analysis can not be replaced,reasonable combination of indications can make prenatal diagnosis better.