Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

Bili, C.; Divane, Aspasia; Apessos, Angela; Konstantinos, Tassis; Apostolos, Athanasiadis; Ioannis, Barbarigos; Periklis, Theodoropoulos; Florentin, Lina

doi:10.1002/pd.301

Cited by 55 publications

(31 citation statements)

References 14 publications

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“…Interestingly, some previously mentioned markers (D18S535, D21S1411 and D21S11, D18S978, D13S742, D13S628, and D13S305) showed heterozygosity results similar to those reported by Moftah et al (2013) in Germany (Table 3). The heterozygosity of D18S535 and D21S1411 markers was similar to that observed in the Lebanese population (Choueiri et al, 2006) and the heterozygosity of D18S535, D13S634, and D21S11 was similar to that reported by Bili et al (2002) in the Greek population (Table 3). Our findings showed that the heterozygosity rates of STR markers are different for different populations.…”

Section: Discussionsupporting

confidence: 65%

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

et al. 2016

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ABSTRACT. Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic variation parameters of each STR marker differ among different populations. In this study, we investigated the size, frequency, heterozygosity, polymorphism information content, power of discrimination, and other genetic polymorphism data for 21 STR markers on chromosomes 13, 18, 21, X, and Y in 1000 amniotic fluid samples obtained from south Iranian women. Our results showed that all the 21 STR markers are highly polymorphic and informative in our population. The heterozygosity, polymorphism information content, and power of discrimination of the markers were 62-91.1%, 0.61-0.91, and 0.830-0.976, respectively. The locus D18S386 was the most polymorphic STR, while the locus DXYS218 was the least polymorphic STR among all the studied STRs. The present study has provided extensive data regarding the efficiency of the 21 STR markers for diagnosis of chromosomes 13, 18, 21, X, and Y aneuploidies in the south Iranian population.

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Section: Discussionsupporting

confidence: 65%

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

et al. 2016

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“…QF-PCR has been implemented at a number of other diagnostic laboratories as a validated service; 7,8,10,11 these laboratories use a range of microsatellite markers multiplexed together in different ways. Although the design of individual assays in these laboratories may affect service efficiency, the assays are reported as robust and reliable, indicating that QF-PCR is a technique suitable for application at different sites.…”

Section: Discussionmentioning

confidence: 99%

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy

et al. 2004

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Rapid diagnosis of common chromosome aneuploidies in raised risk pregnancies, usually prior to full karyotype analysis, is now carried out in a number of European genetic centres; several techniques for detecting genomic copy number changes have been described. Prenatal diagnosis of genetic disease requires accurate and robust assays; the invasive procedures are associated with a risk of pregnancy loss and an abnormal result may lead to termination of the pregnancy. The testing of prenatal material (amniotic fluid, chorionic villi or, more rarely, fetal blood) is associated with specific problems, including the quality and quantity of the tissue and difficulties of interpretation due to phenomena such as maternal cell contamination and mosaicism. In addition, there are 24-h, high-throughput demands on centres offering such a service. The extent to which existing and proposed strategies, including different PCRbased assays, a multiplex ligation-dependent probe amplification approach, and microarrays, fulfil the requirements of rapid prenatal testing is discussed. In the past 3 years, we have tested 7720 prenatal samples for trisomies 13, 18 and 21 using a quantitative fluorescence-PCR (QF-PCR) approach. The abnormality rate was 5.7%. There were no misdiagnoses for nonmosaic trisomy, the amplification failure rate was 0.09% of samples, and 97% of samples received a report on the working day following sample receipt. Maternal cell contamination and mosaicism were also detected. Our data recommend a QF-PCR approach as the current method of choice for rapid aneuploidy testing.

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“…QF-PCR tests are now performed in several prenatal centres in Europe for the detection of major numerical abnormalities affecting chromosomes 21, 18, 13, X and Y, with results provided within a 24 h period [6][7][8][9][10][11][12][13]. Despite the wide range of microsatellite marker multiplexes used by these laboratories, the assays are reported as both robust and reliable [4].…”

Section: Introductionmentioning

confidence: 99%

QF-PCR as a molecular-based method for autosomal aneuploidies detection

Moftah¹,

Marzouk²,

El-Kaffash³

et al. 2013

ARSci

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Objectives: The currently available methods for rapid prenatal diagnosis of common chromosomal aneuploidies are either Inter-phase-Fluorescence in Situ Hybridisation (I-FISH) or Quantitative 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 chro-mosomal 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.

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Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR

Abstract: Successful analysis of a large number of prenatal samples proves QF-PCR to be an efficient adjunct in routine prenatal diagnosis.

Cited by 55 publications

References 14 publications

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

Strategies for the rapid prenatal diagnosis of chromosome aneuploidy

QF-PCR as a molecular-based method for autosomal aneuploidies detection

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