Application of combined chromosomal karyotyping and BACs-on-Beads assay for the prenatal diagnosis of high-risk gravida from Ningbo / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo.</p><p><b>METHODS</b>For 2779 women, results of conventional karyotyping analysis and BoBs assay were compared.</p><p><b>RESULTS</b>For common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs.</p><p><b>CONCLUSION</b>The BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.</p>