Validation of QF-PCR for prenatal diagnoses in a Brazilian population
نویسندگان
چکیده
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes. RESULTS: A total of 162 amniotic fluid samples analyzed using multiplex QF-PCR were compared with karyotyping analysis. The QF-PCR results were consistent with the results of cytogenetic analysis in 95.4% of all samples. CONCLUSION: QF-PCR was demonstrated to be efficient and reliable for prenatal aneuploidy screening. This study suggests that QF-PCR can be used as a rapid diagnostic method. However, rearrangements and some mosaic samples cannot be detected with this test; thus, those exceptions must undergo cytogenetic analysis.
منابع مشابه
Validation of quantitative fluorescent-PCR for rapid prenatal diagnosis of common aneuploidies in the Chinese population.
Quantitative fluorescent polymerase chain reaction (QF-PCR) is an accurate and reliable method for rapid detection of aneuploidy; however, it is not routinely used in China. We aimed to validate QF-PCR as a means for prenatal common aneuploidy screening and to analyze the heterozygosities of short tandem repeat (STR) markers in the Chinese population. The sequences of 19 STR markers in chromoso...
متن کاملSegmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...
متن کاملRapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples.
The quantitative fluorescent PCR (QF-PCR) assay, introduced during the last few years, allows prenatal diagnoses of common chromosome aneuploidies in a few hours after sampling. We report the first assessment of QF-PCR performed on a large cohort of 18,000 consecutive clinical specimens analysed in two different Centres. All samples were analysed by QF-PCR using several selected STR markers tog...
متن کاملInvestigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population
OBJECTIVE G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR) has been widely used for this purpose. Heterozygosity of short ta...
متن کاملA retrospective and theoretical evaluation of rapid methods for detecting chromosome abnormalities and their implications on genetic counseling based on a series of 3868 CVS diagnoses.
OBJECTIVES To report our experience over the past 10 years of chorionic villi sampling (CVS) prenatal diagnosis in a high-risk population for chromosomal anomalies, and to analyze, according to the results, the advantages and disadvantages of using quantitative fluorescence polymerase chain reaction (QF-PCR) in amniotic fluid with respect to a conventional semi-direct cytogenetic CVS method in ...
متن کامل