Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

Mann, Kathy; Fox, Susan P.; Abbs, Stephen; Yau, Shu; Scriven, Paul N.; Docherty, Zoe; Ogilvie, Caroline Mackie

doi:10.1016/s0140-6736(01)06183-9

Cited by 193 publications

(163 citation statements)

References 15 publications

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“…However, it is essential to include compensations for the preferential amplification of short alleles. In agreement with other groups (Mann et al, 2001;, we observed a preferential amplification of short alleles in PCR. In such cases peak height and peak area produce signals based on different lengths of the alleles rather than the percentage distribution.…”

Section: Discussionsupporting

confidence: 93%

Quantitative Fluorescent PCR (QF-PCR) on microsatellites, a fast and quantitative method to assay chimeric DNA samples in honeybees (Apis mellifera)

et al. 2006

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-The production of chimeras by nuclear transfer or cell transplantation requires functional tools for the detection of individuals that have successfully incorporated donor material. Quantitative Fluorescent PCR (QF-PCR) on microsatellites was employed on artificial chimeric honeybee DNA samples, to develop protocols for detection and quantification of donor genotypes after nuclear transfer and cell transplantations into honeybee embryos. Standard curves were produced for three microsatellite markers and demonstrate that there is a close to linear correlation between the amounts of donor genotypes estimated with QF-PCR and actual amounst of genotypes. The method was sensitive down to a 1% level and could detect and quantify small amounts of donor DNA in artificially mixed samples. QF-PCR offers fast and sensitive detection and quantification of genotypes and, thus, provides a useful tool for studies of chimeric honeybees and other species.Quantitative Fluorescent PCR (QF-PCR) / microsatellites / nuclear transfer / honeybee / Apis mellifera

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Section: Discussionsupporting

confidence: 93%

Quantitative Fluorescent PCR (QF-PCR) on microsatellites, a fast and quantitative method to assay chimeric DNA samples in honeybees (Apis mellifera)

et al. 2006

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“…In this study, we validated all the STR markers used in the Devyser commercial kit and could provide extensive data on them due to the sample size of 1000. Compared to the results obtained in studies by Mann et al (2001Mann et al ( , 2008, our results showed major heterozygosity differences between UK and Iranian study population. The heterozygosity of D18S535, D13S634, D21S1435, D21S1411, D21S1437, D21S11, XHPRT, and DXYS267 markers in the south Iranian population was lower than that in study populations reported by Mann et al (2001 (Table 3).…”

Section: Discussioncontrasting

confidence: 91%

“…Compared to the results obtained in studies by Mann et al (2001Mann et al ( , 2008, our results showed major heterozygosity differences between UK and Iranian study population. The heterozygosity of D18S535, D13S634, D21S1435, D21S1411, D21S1437, D21S11, XHPRT, and DXYS267 markers in the south Iranian population was lower than that in study populations reported by Mann et al (2001 (Table 3). The heterozygosity reported by Mann et al (2001 for D18S978, D18S386, D13S742, D13S628, D13S305, and DXS1187 markers was lower than that observed in the south Iranian population (Table 3).…”

Section: Discussioncontrasting

confidence: 91%

“…The heterozygosity of D18S535, D13S634, D21S1435, D21S1411, D21S1437, D21S11, XHPRT, and DXYS267 markers in the south Iranian population was lower than that in study populations reported by Mann et al (2001 (Table 3). The heterozygosity reported by Mann et al (2001 for D18S978, D18S386, D13S742, D13S628, D13S305, and DXS1187 markers was lower than that observed in the south Iranian population (Table 3). 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).…”

Section: Discussionmentioning

confidence: 67%

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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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“…4 Since 1993, this molecular approach has been extensively used by several groups on a research basis 5 -10 and the diagnosis of aneuploidies by QF -PCR of STRs has now been validated as a reliable method applicable in many laboratories. 9 The use of STRs for the molecular diagnosis of aneuploidies on uncultured amniocytes requires the PCR amplification of several polymorphic markers for each chromosome tested. Since a minimum of two informative markers is preferable for a confident diagnosis of trisomy, 9 this leads to complex multiplex PCR assays.…”

Section: Introductionmentioning

confidence: 99%

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes

Rahil¹,

Solassol

Philippe³

et al. 2002

Eur J Hum Genet

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Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance for women with normal results can be performed by molecular analysis of uncultured foetal cells in less than 24 h. Today, all molecular techniques developed for a fast diagnosis of aneuploidies rely on the semiquantification of fluorescent PCR products from short tandem repeat (STR) polymorphic markers. Our objective was to test a chromosome quantification method based on the analysis of fluorescent PCR products derived from non-polymorphic target genes. An easy to set up co-amplification of portions of DSCR1 (Down Syndrome Critical Region 1), DCC (Deleted in Colorectal Carcinoma), and RB1 (Retinoblastoma 1) allowed the molecular detection of aneuploidies for chromosomes 21, 18 and 13 respectively. Quantitative analysis was performed in a blind prospective study of 400 amniotic fluids. Four samples (1%) could not be analysed by PCR probably because of a low concentration of foetal DNA. Follow up karyotype analysis was done on all samples and molecular results were in agreement with the cytogenetic data with no false -positive or false -negative results. Our gene based fluorescent PCR approach is an alternative molecular method for a rapid and reliable detection of aneuploidies which can be helpful for the clinical management of high-risk pregnancies.

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Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis

Cited by 193 publications

References 15 publications

Quantitative Fluorescent PCR (QF-PCR) on microsatellites, a fast and quantitative method to assay chimeric DNA samples in honeybees (Apis mellifera)

Quantitative Fluorescent PCR (QF-PCR) on microsatellites, a fast and quantitative method to assay chimeric DNA samples in honeybees (Apis mellifera)

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

Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes

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