羊水穿刺在产前筛查无创高风险病例中染色体异常的产前诊断价值

The value of amniocentesis in the prenatal diagnosis of chromosomal abnormalities in non-invasive high-risk cases of prenatal screening

目的探讨羊水穿刺在产前筛查无创高风险病例中染色体异常的产前诊断价值。方法选取2017年1月至2019年12月本院收治的105例产前筛查无创高风险病例作为研究对象,给予遗传学咨询,在患者知情同意后,行羊水穿刺-核型分析。以临床随访结果为准,统计羊水穿刺-核型分析检出各类型染色体异常(13-三体综合征、18-三体综合征、21-三体综合征、性染色体异常等)情况及诊断各类型染色体异常的灵敏度、准确度、特异度,采用受试者工作特征曲线(ROC)及ROC下面积(AUC)分析羊水穿刺-核型分析诊断总染色体异常的效能。结果105例产前筛查无创高风险病例,临床随访染色体异常83例,其中包括13-三体综合征9例,18-三体综合征13例,21-三体综合征51例,性染色体异常10例;以临床随访结果为准,羊水穿刺-核型分析诊断13-三体综合征的灵敏度为88.89%,准确度为96.19%,特异度为96.88%;羊水穿刺-核型分析诊断18-三体综合征的灵敏度为92.31%,准确度为99.05%,特异度为100.00%;羊水穿刺-核型分析诊断21-三体综合征的灵敏度为98.04%,准确度为97.14%,特异度为96.30%;羊水穿刺-核型分析诊断性染色体异常的灵敏度为90.00%,准确度为98.10%,特异度为98.95%;羊水穿刺-核型分析诊断总染色体异常的灵敏度为95.18%,特异度为72.73%,准确度为90.48%。结论羊水穿刺对NIPT高风险人群染色体异常具有较高的产前诊断价值,能为优生优育、遗传咨询提供可靠的参考。

Objective To explore the value of amniocentesis in the prenatal diagnosis of chromosomal abnormalities in non-invasive high-risk cases of prenatal screening.Methods A total of 105 noninvasive,high-risk cases of prenatal screening admitted to our hospital from January 2017 to December 2019 were selected as the research objects,and genetic counseling was given.After the patients informed consent,amniocentesis-karyotype analysis was performed.Based on the clinical follow-up results,statistical amniocentesis-karyotype analysis was performed to detect various types of chromosomal abnormalities(13-trisomy syndrome,18-trisomy syndrome,21-trisomy syndrome,sex chromosomes,etc.)and the sensitivity,accuracy and specificity of diagnosing various types of chromosomal abnormalities.Receiver operating characteristic curve(ROC)and area under ROC(AUC)were used to analyze the efficacy of amniotic fluid puncture-karyotype analysis for diagnosis of total chromosomal abnormalities.Results Among 105 non-invasive high-risk cases of prenatal screening,there were 83 cases of chromosomal abnormalities in clinical follow-up,including 9 cases of 13-trisomy syndrome,13 cases of 18-trisomy syndrome,51 cases of 21-trisomy syndrome,and 10 cases of sex chromosome abnormalities.Based on the clinical follow-up results,the sensitivity of amniocentesis-karyotype analysis for 13-trisomy syndrome was 88.89%,the accuracy was 96.19%,and the specificity was 96.88%.Amniotic fluid puncture-karyotype analysis for the diagnosis of 18-trisomy syndrome had a sensitivity of 92.31%,accuracy of 99.05%,and specificity of 100.00%.The sensitivity of amniocentesiskaryotype analysis for diagnosis of 21-trisomy syndrome was 98.04%,accuracy was 97.14%,and specificity was 96.30%.Amniotic fluid puncture-karyotyping analysis had a sensitivity of 90.00%,an accuracy of 98.10%,and a specificity of 98.95%;the sensitivity of amniocentesis-karyotype analysis for diagnosis of total chromosomal abnormalities was 95.18%,specificity was 72.73%,and accuracy was 90.48%.Conclusion Amniotic fluid puncture has a high prenatal diagnosis value for chromosomal abnormalities in NIPT high-risk populations,and can provide a reliable reference for eugenics and postnatal care,genetic counseling.