Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
| Autor: | J.K. Ploos van Amstel, J. Meijer, Ron Hochstenbach, Godelieve C.M.L. Page-Christiaens, J. van de Brug, I. Vossebeld-Hoff, Richard J. Sinke, R. B. van der Luijt, J. M. de Pater, R.P.M. Jansen |
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| Přispěvatelé: | AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases |
| Rok vydání: | 2005 |
| Předmět: |
musculoskeletal diseases
congenital hereditary and neonatal diseases and abnormalities Aneuploidy Chromosome Disorders Trisomy Prenatal diagnosis Biology Polymerase Chain Reaction Sensitivity and Specificity Chromosomes Fluorescence Pregnancy medicine Chromosomes Human Humans Amniocyte False Positive Reactions Multiplex Genetic Testing Prospective Studies Multiplex ligation-dependent probe amplification In Situ Hybridization In Situ Hybridization Fluorescence Genetics (clinical) medicine.diagnostic_test Obstetrics and Gynecology Karyotype Amniotic Fluid medicine.disease Molecular biology Amniocentesis Female Human |
| Zdroj: | Prenatal Diagnosis, 25(11), 1032-9. Wiley-Blackwell Prenatal diagnosis, 25(11), 1032-1039. John Wiley and Sons Ltd |
| ISSN: | 1097-0223 0197-3851 |
| Popis: | OBJECTIVE: To test whether multiplex ligation-dependent probe amplification (MLPA) can be used for the detection of aneuploidy of chromosomes 13, 18, 21, X, and Y in uncultured amniocytes.METHODS: We performed a prospective study based on 527 amniotic fluid samples. Chromosome copy numbers were determined by analysing the relative amount of PCR product of chromosome-specific MLPA probes. Results were available within 48 h and were compared with those of karyotyping.RESULTS: There were 517 conclusive MLPA tests. In 514 tests, results were concordant with those of karyotyping. There were two cases of 69,XXX triploidy that could not be detected by MLPA and there was one false-positive result. Here, MLPA indicated a 47,XXY fetus, whereas the karyotype was 46,XY. We correctly identified all 23 cases of autosomal trisomy and the single case of monosomy X in samples collected from 16 up to 36 weeks of gestation. In 10 cases (2%), the result was inconclusive owing to an insufficient amount of DNA.CONCLUSION: Sensitivity, specificity, and failure rate of MLPA were comparable to those of FISH and QF-PCR. Aneuploidy screening in uncultured amniocytes by MLPA is feasible in a clinical diagnostic setting, yielding an informative and rapid result in 98% of cases. |
| Databáze: | OpenAIRE |
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