Rapid Prenatal Diagnosis of Aneuploidies in Uncultured Amniocytes by Fluorescence in situ Hybridization

Eiben, B.; Trawicki, W.; Hammans, W.; Goebel, R; Pruggmayer, M.; Epplen, Jörg T.

doi:10.1159/000020919

Cited by 65 publications

(37 citation statements)

References 11 publications

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“…Many authors emphasise the fact that the MLPA method is sensitive to DNA quality. The rate of failures, when carrying out the test, was comparable with the rate of studies, in which neither the QF-PCR method nor the FISH method gave informative results, which were 0.1-3.7% and 0.0-4.9%, respectively [23][24][25][26][27][28][29]40]. Taking into account the above observations, and ensuring DNA of good quality, the MLPA technique may be recommended as diagnostic standard.…”

Section: Discussionsupporting

confidence: 60%

“…Tests that enable the identification of selected chromosome aberrations by other methods are increasingly common: FISH (fluorescence in situ hybridization), QF-PCR (quantitative fluorescence polymerase chain reaction), and MLPA (multiplex ligation-dependent probe amplification) [20][21][22][23][24][25][26][27][28][29][30][31][32]. These methods, having comparable efficacy and diagnostic reliability, making it possible to diagnose SHOX gene rearrangements [33].…”

Section: Diagnosticsmentioning

confidence: 99%

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Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Mitka

Bednarek²,

Kałużewski³

2015

Endokrynologia Polska

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Introduction: The SHOX gene has been mapped at the pseudoautosomal region 1 (PAR1) of chromosomes X (Xp22.33) and Y (Yp11.32). The loss of SHOX gene functionality is assumed to be responsible for the Leri-Weill syndrome formation and the disproportionate short stature (DSS). The SHOX gene rearrangements constitute the majority of cases of gene functionality loss. Therefore, a practical application of the method, which allows for the diagnostics of the gene rearrangements, becomes a primary issue. With such an assumption, the MLPA technique (multiplex ligation -dependent probe amplification) becomes the method of choice. Material and methods: DNA samples were evaluated in the study by means of the MLPA method. The DNA was isolated from peripheral blood of sixty-three (63) 46,XX patients with short stature. Results: Out of the examined patients, deletions within the SHOX gene were found in five (5) patients, and duplication at the PAR1 regulatory region of the SHOX gene in one (1)

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Section: Discussionsupporting

confidence: 60%

Section: Diagnosticsmentioning

confidence: 99%

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Mitka

Bednarek²,

Kałużewski³

2015

Endokrynologia Polska

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“…With a miscarriage risk of 0.5 -1% it is one of the safest prenatal diagnostic procedures. The introduction of fluorescence in situ hybridization (FISH) during interphase has increased the value of amniocentesis, enabling exclusion or detection of the most common aneuploides in the human genome with the help of DNA probes for chromosomes 13, 18, 21, X and Y on uncultured cell material, the results generally being available in 24 hours 10 .…”

Section: Amniocentesismentioning

confidence: 99%

Prenatal diagnosis

Rodrigo¹

2009

Sri Lanka J Child Health

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“…2,3 Although fast and reliable, the prenatal detection of aneuploidies by FISH remains expensive and its use is mainly restricted to pregnancies with anomalies detected by ultrasonography. The use of QF -PCR of STR for the fast detection of aneuploidies has been applied to trisomy 21.…”

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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Rapid Prenatal Diagnosis of Aneuploidies in Uncultured Amniocytes by Fluorescence in situ Hybridization

Cited by 65 publications

References 11 publications

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Prenatal diagnosis

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

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