https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pubmed&id=28396697&retmode=xml&tool=Litmetric&email=readroberts32@gmail.com&api_key=61f08fa0b96a73de8c900d749fcb997acc09 2839669720200930
1755-8166102017Molecular cytogeneticsMol CytogenetEfficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.12121210.1186/s13039-017-0313-9Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH. Here we describe the results from the last 5 years of service.Fetal tissue samples and products of conception were tested using QF-PCR which will detect aneuploidy for chromosomes 13, 14, 15, 16, 18, 21, 22, X and Y. Samples that were normal were then tested by aCGH and all imbalance >1Mb and fully penetrant clinically significant imbalance <1Mb was reported.QF-PCR analysis identified aneuploidy/triploidy in 25.6% of samples. aCGH analysis detected imbalance in a further 9.6% of samples; this included 1.8% with submicroscopic imbalance and 0.5% of uncertain clinical significance. This approach has a failure rate of 1.4%, compared to 30% for G-banded chromosome analysis.This efficient QF-PCR/aCGH strategy has a lower failure rate and higher diagnostic yield than karyotype or MLPA strategies; both findings are welcome developments for couples with recurrent miscarriage.DonaghueCeliaC0000-0001-5484-1559Genetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.grid.239826.4DaviesNadaNGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.grid.239826.4AhnJoo WookJWGenetics Department, Guys and St Thomas NHS Foundation Trust, London, SE1 9RT UK.grid.420545.2ThomasHelenHGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.grid.239826.4OgilvieCaroline MackieCMGenetics Department, Guys and St Thomas NHS Foundation Trust, London, SE1 9RT UK.grid.420545.2MannKathyKGenetics Department, Viapath Analytics, Guy's Hospital, London, SE1 9RT UK.grid.239826.4engJournal Article20170405
EnglandMol Cytogenet1013179421755-8166AneuploidyFetal tissueMiscarriageProducts of conceptionQF-PCRaCGH
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