Application of the BACs ‐on‐BeadsTM Assay for Rapid Prenatal Detection of Aneuploidies and Microdeletions

This study evaluated the diagnostic accuracy of the BACs‐on‐BeadsTM (BoBsTM) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China – including 3 chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical‐cord centesis samples – were assessed for chromosomal abnormalities by karyotyping and by the BoBsTM assay. A diagnosis was successfully achieved by karyotyping for 98.8% (618/625) and by the BoBsTM assay for 100% (625/625) of the samples. Both assays were concordant for trisomy 21 (2.72%, 17/625), trisomy 18 (1.12%, 7/625), trisomy 13 (0.48%, 3/625), and sex chromosome aneuploidies (0.8%, 5/625). Unlike karyotyping, the BoBsTM assay detected 22q11.2 microdeletion (0.64%, 4/625), 22q11.2 microduplication (0.16%, 1/625), Smith‐Magenis syndrome microdeletion (0.16%, 1/625), and Miller‐Dieker syndrome microdeletion (0.16%, 1/625). Thus, the BoBsTM assay is a reliable and rapid test for detecting common aneuploidies and microdeletions for prenatal diagnosis, and could be used instead of karyotyping for detection of common aneuploidies as well as to provide additional information regarding microdeletions. This article is protected by copyright. All rights reserved
Source: Molecular Reproduction and Development - Category: Reproduction Medicine Authors: Tags: RESEARCH ARTICLE Source Type: research