Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation‐dependent probe amplification (MLPA)

摘要: OBJECTIVE: To test whether multiplex ligation-dependent probe amplification (MLPA) can be used for the detection of aneuploidy 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 relative amount PCR product chromosome-specific MLPA probes. Results available within 48 h compared with those karyotyping. RESULTS: There 517 conclusive tests. In 514 tests, results concordant two cases 69,XXX triploidy that could not detected there was one false-positive result. Here, indicated 47,XXY fetus, whereas karyotype 46,XY. correctly identified all 23 autosomal trisomy single case monosomy X samples collected from 16 up to 36 weeks gestation. 10 (2%), result inconclusive owing an insufficient DNA. CONCLUSION: Sensitivity, specificity, failure rate comparable FISH QF-PCR. Aneuploidy screening amniocytes is feasible clinical diagnostic setting, yielding informative rapid 98% cases.