The modern molecular-genetic methods have been implementing actively into the medical practice.They improve diagnostic accuracy,help to prognosticate the course of oncological diseases,optimize the results of prenatal...The modern molecular-genetic methods have been implementing actively into the medical practice.They improve diagnostic accuracy,help to prognosticate the course of oncological diseases,optimize the results of prenatal diagnosis,decrease mothers' anxiety and improve the clinical outcomes of pregnancy.There are used the various traditional approaches e.g.cariotyping,FISH and more contemporary-real-time PCR,comparative genomic hybridization(CGH) or chromosomal microarray analysis(CMA),Quantitative Fluorescent PCR(QF-PCR).For expressing diagnosis of triploidy by 21st and 18th chromosomes there was used QF-PCR technologies with the consequent quantative analysis on the automatic capillary microelectrophoresis on the microarrays Expеrion DNA1K.There was determined that diagnostic accuracy of QF-PCR was comparable with existing routine methods,but it had some advantages including expressity and could be recommended for implementation into practical medicine.展开更多
Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Ch...Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Chain Reaction (QF-PCR). QF-PCR represents a rapid, high throughput, cost-effective alternative for Interphase-FISH. The objective of the study was to evaluate the performance of QF-PCR, as a molecular-based technique for the detection of chromosome 21, 18 and 13 copy numbers. Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly tested for chromosome 21, 18 and 13 copy numbers using QF-PCR and the results were compared with those of conventional cytogenetic analysis. Results: QF-PCR demonstrated optimal sensitivity and specificity (100%) for non mosaic trisomies. QF-PCR was able to consistently detect maternal cell contamination and mosaic trisomies when the trisomic cell line was present at an adequate level (23% or more). However, QF-PCR was unable to detect chromosomal rearrangements for which the primers were not designed. Conclusion: QF- PCR proved its superior performance as a molecular-based method for autosomal aneuploidy detection concerning both sensitivity and specificity.展开更多
文摘The modern molecular-genetic methods have been implementing actively into the medical practice.They improve diagnostic accuracy,help to prognosticate the course of oncological diseases,optimize the results of prenatal diagnosis,decrease mothers' anxiety and improve the clinical outcomes of pregnancy.There are used the various traditional approaches e.g.cariotyping,FISH and more contemporary-real-time PCR,comparative genomic hybridization(CGH) or chromosomal microarray analysis(CMA),Quantitative Fluorescent PCR(QF-PCR).For expressing diagnosis of triploidy by 21st and 18th chromosomes there was used QF-PCR technologies with the consequent quantative analysis on the automatic capillary microelectrophoresis on the microarrays Expеrion DNA1K.There was determined that diagnostic accuracy of QF-PCR was comparable with existing routine methods,but it had some advantages including expressity and could be recommended for implementation into practical medicine.
基金a DAAD-German Egyptian Research Long-Term Schoolarship(GERLS).
文摘Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Interphase-Fluorescence in Situ Hybridisation (I-FISH) or Quanti- tative Fluorescent Polymerase Chain Reaction (QF-PCR). QF-PCR represents a rapid, high throughput, cost-effective alternative for Interphase-FISH. The objective of the study was to evaluate the performance of QF-PCR, as a molecular-based technique for the detection of chromosome 21, 18 and 13 copy numbers. Study design: A retrospective cohort of 163 samples referred for screening of common chromosomal aneuploidies was blindly tested for chromosome 21, 18 and 13 copy numbers using QF-PCR and the results were compared with those of conventional cytogenetic analysis. Results: QF-PCR demonstrated optimal sensitivity and specificity (100%) for non mosaic trisomies. QF-PCR was able to consistently detect maternal cell contamination and mosaic trisomies when the trisomic cell line was present at an adequate level (23% or more). However, QF-PCR was unable to detect chromosomal rearrangements for which the primers were not designed. Conclusion: QF- PCR proved its superior performance as a molecular-based method for autosomal aneuploidy detection concerning both sensitivity and specificity.
