Application of multiple quantitative fluorescence polymerase chain reaction approach for rapid prenatal diagnosis of common chromosome aneuploidies / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of multiple quantitative fluorescence polymerase chain reaction (QF-PCR) approach for rapid prenatal diagnosis of common chromosomal aneuploidies.</p><p><b>METHODS</b>A total of 4760 amniotic samples from 4649 pregnant women were analyzed with QF-PCR for 21, 18, 13, X and Y aneuploidies, and the results were compared with those of karyotype analysis.</p><p><b>RESULTS</b>The overall success rate for QF-PCR was 98.4%. All the 48 cases of 21, 18, 13, X and Y aneuploidies (including 2 case of 46, XY, rob(1321), +21; 4 trisomy 21 in 4 twins) were detected by QF-PCR, with the overall sensibility and specificity both reaching 100%. One mosaicism of trisomy 21 and 4 mosaicisms of sex chromosome (1 misdiagnosed by karyotype analysis) were also detected by QF-PCR. Four mosaicisms of sex chromosome were verified as missed diagnosis. All the 64 cases failed by karyotype analysis were successfully analyzed by the QF-PCR approach. The total consistency rate for QF-PCR and karyotyping has reached 98.3%.</p><p><b>CONCLUSION</b>QF-PCR approach can diagnose 21, 18, 13 as well as X and Y aneuploidies within 48 hours, in addition with a portion of mosaicisms. It is an efficient and reliable method for rapid prenatal diagnosis, and therefore provide an important supplement for karyotype analysis.</p>