OmniPlex—a new QF‐PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population

Putzová, Martina; Pecnová, Ľubomíra; Dvořáková, Lucie; Soldatova, I. A.; Goetz, P; Stejskal, D.

doi:10.1002/pd.2151

Cited by 6 publications

(5 citation statements)

References 17 publications

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“…Our results were comparable to those reported in the literature [9,10]. All seven cases which could not be confirmed by the molecular assay were either mosaic trisomy samples with a low level of the trisomic cell line (two cases) or unbalanced structural chromosomal rearrangements (five cases).…”

Section: Discussionsupporting

confidence: 88%

“…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%

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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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Section: Discussionsupporting

confidence: 88%

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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“…The authors then performed QF-PCR on 43,000 clinical samples and found 127 cases of trisomy 13, for which the QF-PCR results were consistent with those of the cytogenetic analysis (4). Putzova et al (17) found 11 and eight alleles of D13S305 and D13S631, respectively, in a Czech population, and the heterozygosity of each marker was 0.809 and 0.827. With regard to D13S305 and D13S634, Cho et al (18) found 11 and 10 alleles, respectively, in a Korean population, while Nasiri et al (10) observed nine and eight alleles, respectively, in an Iranian population.…”

Section: Discussionmentioning

confidence: 99%

“…The location of the STR markers on the target chromosome is also crucial. In the present study, three STR markers distributed along the long arm of chromosome 13 were selected; these exhibited no overlap, which could have increased the possibility of detecting partial monosomy or trisomy (17). These STR markers, D13S305, D13S631 and D13S634, were selected from a total of eight STR markers, D13S631, D13S634, D13S258, D13S303, D13S256, D13S628, D13S742 and D13S305, based on their extensive use in the literature (4,7,10,15,(17)(18)(19), data on their repeat number, heterozygosity and genetic polymorphisms and our preliminary experiment, and were shown to be highly polymorphic in the Han population of Tianjin, China.…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Shi

et al. 2015

Experimental and Therapeutic Medicine

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Abstract. Short tandem repeat (STR) markers, also known as microsatellites, are extensively used in mapping studies, forensics and disease diagnosis due to their small dimension and low mutation and high polymorphism rates. In recent years quantitative fluorescence polymerase chain reaction (QF-PCR) has been successfully used to amplify STR markers in the prenatal diagnosis of common chromosomal abnormalities. This method provides a diagnosis of common aneuploidies 24-48 h after sampling with low error rates and cost; however, the size of different alleles, frequency, heterozygosity and distribution of STR markers vary among different populations. In the present study three STR markers, D13S305, D13S631 and D13S634, on chromosome 13 were analyzed in 350 unrelated individuals (200 males and 150 females) from the Han population of Tianjin, China using QF-PCR. Eleven, seven and 11 alleles of each marker were observed, respectively. The frequencies of the genotypes were in good agreement with Hardy-Weinberg equilibrium (P>0.05). The results showed that these three STR markers were highly polymorphic in the Han population of Tianjin, China. The study has provided basic data for use in the prenatal diagnosis of Patau syndrome.

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“…More importantly, these assays typically target only one locus per chromosome, precluding detection, and confirmation of trisomy. Trisomy detection using microsatellite genotyping requires multiple loci on each targeted chromosome, and at least two informative STR loci are usually required to confirm trisomy [9,[16][17][18].…”

Section: Introductionmentioning

confidence: 99%

Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

Furtado¹,

Jama²,

Paxton³

et al. 2012

Fetal and Pediatric Pathology

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Autosomal trisomy is the most common genetic abnormality observed in pregnancy loss. We designed a panel of mini-short tandem repeats (mini-STRs) for aneuploidy detection in chromosomes 13, 16, 18 and 21 from fresh and formalin fixed, paraffin embedded (FFPE) samples from products of conception (POC). FFPE POCs with trisomy 13 (n = 6), trisomy 18 (n = 6), trisomy 21 (n = 12), 6 euploid for the chromosomes of interest and two trisomy 16 samples from fresh tissue were tested. Concordance between cytogenetics and genotyping was 100% for non-mosaic samples. Mini-STR genotyping is a viable method for targeted aneuploidy detection in low quality DNA samples.

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OmniPlex—a new QF‐PCR assay for prenatal diagnosis of common aneuploidies based on evaluation of the heterozygosity of short tandem repeat loci in the Czech population

Cited by 6 publications

References 17 publications

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

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

Genetic polymorphisms of short tandem repeat loci D13S305, D13S631 and D13S634 in the Han population of Tianjin, China

Aneuploidy Detection in Paraffin Embedded Tissue from Products of Conception by Mini-STR Genotyping

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