Rapid and novel prenatal molecular assay for detecting aneuploidies and microdeletion syndromes

Abstract

The bead array approach is a rapid and reliable test for detecting aneuploidies and microdeletions. This assay has the potential to provide the benefit of expanded molecular cytogenetic testing to pregnant women undergoing invasive prenatal diagnosis. This approach may be especially useful in parts of the world where cytogenetic personnel and facilities may be limited.

Prenatal BoBsTM in the cytogenetic analysis of products of spontaneous miscarriage

“…Eight cases were uninterpretable, giving a technical failure rate of 11.4%, which was higher than the rate of ~3% registered for prenatal screening using Prenatal BoBs TM [5,12] and also higher than the rate of ~ 2% reported for the screening of POCs using Karyolite Bobs TM . [6,10] These results may be explained by the fact that we had numerous samples with poor DNA quality due to advanced maceration of fetal tissue.…”

“…This rapid targeted assay is dependent on DNA extraction and does not require live or intact cells, and represents an interesting alternative to conventional cytogenetics that require cell culture. [5,9,11,12] In our study, cell culture failure prevented standard karyotype analysis of 38 samples. However, Prenatal BoBs TM provided a conclusive result in all cases, making it a useful tool for the cytogenetic analysis of POCs, especially when culture fails.…”

“…[11] Prenatal BoBs has been described as more informative than rapid FISH and QF-PCR, which screen only frequent aneuploidies. [9] This technique also enabled us to provide rapid results with conclu sive outcomes within 24 hours of receipt of the sample, [5,9,11,12] which is about half the time of fast FISH aneuploidy screening, because it is possible to interpret the profiles of several samples in few minutes. [5,9] Furthermore, it is cheaper than other technologies that are able to detect more alterations (array-CGH), being of the same order of cost as fast FISH.…”

Noninvasive Prenatal Testing: The Indian Perspective

“…Chromosomes that have low GC content, such as chromosome 13, lead to poor performance of the NIPT. Counting methods suffer more at low FF, as there is less distinction between the euploid and aneuploid distributions [27]. Karyotype can only detect deletions/duplications of size [7][8][9][10] Mb.…”

Bacterial artificial chromosomes (BACs)-on-Beads™ as a diagnostic platform for the rapid aneuploidy screening of products of conception

“…Cytogenetic techniques that are not dependent on actively growing tissue are becoming more common, including quantitative fluorescence (QF)-PCR (2,3), multiplex ligation-dependent probe amplification (MLPA) (4,5), molecular karyotyping (6) and bacterial artificial chromosomes (BACs)-on-Beads™ (BoBs) (7)(8)(9)(10)(11). Of these techniques, BoBs offers the ability to assess small batch sizes at a relatively low cost with comprehensive coverage of all the chromosome arms, whilst complementing the highly interrogative array-based methods that are used in molecular karyotyping.…”