论文部分内容阅读
目的对3075例产前诊断标本进行常见染色体非整倍体快速产前诊断的结果进行回顾性分析,探讨分析荧光定量PCR(QF-PCR)在快速产前诊断常见染色体非整倍体中的临床应用价值。方法采用QF-PCR技术对样本进行21、18、13、X及Y染色体非整倍体诊断,并与核型分析结果进行比较。结果 QF-PCR均正确检出38例21、18、13、X及Y染色体非整倍体,无假阳性结果;同时亦正确检出1例18-三体嵌合样本,但是漏诊了3例涉及21和性染色体异常的嵌合体。对于体外培养失败的样本,可将QF-PCR作为培养失败的样本一个补充。结论 QF-PCR技术能够在48～72h内快速、准确地诊断21、18、13、X及Y染色体非整倍体,此技术在快速产前诊断常见非整倍体方面具有重要临床实用价值,可弥补核型分析带来的不足,可以最大程度地缓解孕妇及其家人的焦虑。
Objective To analyze the results of rapid prenatal diagnosis of common chromosome aneuploidy in 3075 cases of prenatal diagnosis, and to analyze and analyze the clinical application of QF-PCR in rapid prenatal diagnosis of common aneuploidy Value. Methods QF-PCR was used to diagnose 21, 18, 13, X and Y chromosome aneuploidies and to compare with karyotype analysis results. Results QF-PCR correctly detected 38 cases of 21, 18, 13, X and Y chromosome aneuploidy without any false-positive results. One case of 18-trisomy was correctly detected, but 3 cases missed the diagnosis Chromosomes involving 21 and sex chromosome abnormalities. QF-PCR can be used as a sample of unsuccessful in vitro culture to supplement one. Conclusion QF-PCR can rapidly and accurately diagnose 21, 18, 13, X and Y aneuploidy within 48 ~ 72h. This technique has important clinical practical value in the rapid prenatal diagnosis of common aneuploidy, Can make up for deficiencies caused by karyotyping, to minimize the anxiety of pregnant women and their families.