中华检验医学杂志
中華檢驗醫學雜誌
중화검험의학잡지
CHINESE JOURNAL OF LABORATORY MEDICINE
2013年
1期
1-5
,共5页
遗传筛查%产前诊断%质量控制
遺傳篩查%產前診斷%質量控製
유전사사%산전진단%질량공제
Genetic screening%Prenatal diagnosis%Quality control
母血清学产前筛查的质量控制必须强调:孕周和体重等临床因素、测定结果的准确性、风险计算参数、产前筛查数据库等均会影响筛查质量,且产前筛查的结果只是一个风险提示,后续的诊断与随访是关键.现行的中孕期筛查存在检出效率低、假阳性率高等问题,建立适合我国国情的产前筛查和诊断质量管理体系有望提高筛查效率.此外,高龄孕妇及双胎妊娠筛查诊断问题,改进羊水细胞培养方法、提升染色体分析自动化水平,以及快速产前分子诊断技术的引入及定位等问题亟待我们解决.
母血清學產前篩查的質量控製必鬚彊調:孕週和體重等臨床因素、測定結果的準確性、風險計算參數、產前篩查數據庫等均會影響篩查質量,且產前篩查的結果隻是一箇風險提示,後續的診斷與隨訪是關鍵.現行的中孕期篩查存在檢齣效率低、假暘性率高等問題,建立適閤我國國情的產前篩查和診斷質量管理體繫有望提高篩查效率.此外,高齡孕婦及雙胎妊娠篩查診斷問題,改進羊水細胞培養方法、提升染色體分析自動化水平,以及快速產前分子診斷技術的引入及定位等問題亟待我們解決.
모혈청학산전사사적질량공제필수강조:잉주화체중등림상인소、측정결과적준학성、풍험계산삼수、산전사사수거고등균회영향사사질량,차산전사사적결과지시일개풍험제시,후속적진단여수방시관건.현행적중잉기사사존재검출효솔저、가양성솔고등문제,건립괄합아국국정적산전사사화진단질량관리체계유망제고사사효솔.차외,고령잉부급쌍태임신사사진단문제,개진양수세포배양방법、제승염색체분석자동화수평,이급쾌속산전분자진단기술적인입급정위등문제극대아문해결.
It must be emphasized in the maternal serum prenatal screening that the quality is not only influenced by accuracy of biomarker assay,risk calculation parameters and biomarker database,but also influenced by clinical factors such as gestational weeks,weight and ect.The result of prenatal screening is just a risk evaluation,the subsequent diagnosis and the follow-up are more important.It is expected to improve screening efficiency by localization of prenatal screening database and making the quality management of the prenatal screening-diagnosis suitable for the national conditions.On the other hand,prenatal screening in the women of advanced maternal age and twin pregnancy,improve amniotic fluid cell culture method,chromosome analysis automation,the introduction and positioning of rapid prenatal molecular diagnosis techniques become the hot issues.
