Bacterial artificial chromosome on beads (BoBs) technology in prenatal diagnosis

Abstract

Objective To assess the feasibility of bacterial artificial chromosome on beads, (BoBs) in prenatal diagnosis. Methods A total of 287 pregnant women who underwent amniocentesis and 16 underwent cordocentesis, from March 2015 to February 2016 in Center of Prenatal Diagnosis of Fujian Provincial Maternity and Child Health Care Hospital, were recruited. Karyotyping and BoBs technology were both performed for each sample to detect chromosomal abnormalities. Gene microarray was further performed when microduplication or microdeletion was identified by BoBs. The consistency of BoBs technology and karyotype analysis combined with gene microarray was compared. Results Fourteen cases of trisomy 21, five cases of trisomy 18, four cases of trisomy 13, one case of 48, XXYY and one case of 47, XXX were detected by BoBs technology with specific enhanced signal and results were consistent with karyotype. Three cases of 22q11.2 microdeletion and one case of microduplication in 22q11.2 area were detected by BoBs technology and these were confirmed by gene array. However, none of the above four cases were identified by karyotype. The positive detection rates of BoBs technology and karyotype alone were 9.57% (29/303) and 8.25% (25/303), respectively. Among the 15 elderly pregnant women with abnormal ultrasound findings, 11 were detected with fetal chromosome abnormality. Conclusions BoBs, a bead-based multiplex assay being qualified to detect chromosomes 13, 18, 21, X/Y aneuploidies and nine microdeletion regions, with its speediness, reliability and easy operability, is promising in prenatal diagnosis. Key words: Prenatal diagnosis; Karyotyping; Chromosome aberrations; Chromosome deletion; Chromosomes, artificial, bacterial