2298例羊水细胞染色体核型与高危指征分析

Analysis of chromosomal karyotype with high risk indication of 2 298 amniotic fluid cells

目的:分析孕中期羊水细胞染色体异常核型发生的频率、类型及其与不同产前诊断指征的关系。方法:回顾性分析2020年1月—2022年12月于遂宁市中心医院产前诊断中心就诊的2309例产前诊断孕妇染色体核型分析结果与诊断指征的关系。结果:2309例样本中,培养成功2298例,成功率为99.52%;共检出异常核型101例,异常检出率为4.40%,其中,染色体数目异常55例,染色体结构异常46例。根据不同产前诊断指征分组,产前筛查高风险组异常率为2.87%,高龄组异常率为3.65%,自愿穿刺组异常率为2.33%,超声异常组异常率为8.86%,不良孕产史组异常率为4.48%,双亲(之一)染色体异常组异常率为37.50%,无创产前检测异常组异常率为70.00%。结论:产前诊断指征的分类能够有效检出染色体异常,对预防出生缺陷有重要意义。

Objective To investigate the relationship between different prenatal diagnostic indications and the frequency and type of abnormal karyotypes in amniotic fluid cells in the second trimester.Methods Retrospective analysis the karyotype analysis results of 2309 pregnant women with prenatal diagnosis who came to the Prenatal Diagnosis Center of Suining Central Hospital from January 2020 to December 2022 were related to the diagnostic reference.Results Among 2309 samples,2298 cases were successfully cultured,the success rate was 99.52%;101 cases of variant karyotypes were detected in 2298 cases,and the abnormal detection rate was 4.40%,among them 54 cases was abnormal in number,44 cases of structural abnormality.The detection rate was 2.87%,3.65%,2.33%,8.86%,4.48%,37.5%and 70.00%,respectively in the prenatal screening in high-risk group,the senile group,the voluntary puncture group,the abnormal ultrasound group,the adverse pregnancy/history group,the parental chromosome abnormality group and the non-invasive prenatal testing(NIPT)abnormal group.Conclusions High risk prenatal diagnostic indications combined with amniotic fluid chromosome analysis can effectively detect chromosomal abnormalities,which is important to prevent birth defects.