Abstract
OBJECTIVE To assess the value of BAC-on-Beads(BoBs) technology combined with conventional chromosomal karyotyping for reducing birth defects. METHODS For 690 women with singleton pregnancy and indication for prenatal diagnosis, aneuploidies of chromosomes 13, 18, 21, X and Y, in addition with 9 microdeletions and microduplications, were detected with the BoBs assay. And the results were compared with that of conventional karyotyping of amniocytes. RESULTS Karyotyping analysis attained a positive rate of 6.08% (42/690), which included 36 aneuploidies and 6 structural aberrations. The BoBs assay attained a detection rate of 5.95% (41/689). In addition to all chromosomal aneuploidies detected by conventional karyotyping, the Bobs assay has detected 3 cases with Xp22 region microdeletions, 1 case with 22q11 segment duplication, and 1 case with 5p15 microduplication. No balanced translocation or chromosomal polymorphisms was detected. CONCLUSION BoBs technique combined with conventional karyotyping is suitable for rapid diagnosis of a large number of prenatal cases and increasing the detection rate for fetal chromosomal abnormalities.
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