Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis

• Published in: Molecular cytogenetics 2019-02, Vol.12 (1), p.9-9, Article 9
• Main Authors: Miao, Zhengyou, Liu, Xia, Hu, Furong, Zhang, Ming, Yang, Pingli, Wang, Luming
• Format: Article
• Language: English
• Subjects: Amniocentesis; Amniotic fluid; Artificial chromosomes; Bacterial artificial chromosomes; Chromosome aberrations; Chromosome disorders; Chromosomes; Deoxyribonucleic acid; DNA; Fetuses; Genetic aspects; Gestation; Health risk assessment; Hybridization; Karyotypes; Karyotyping; Methods; Polymerase chain reaction; Pregnancy; Pregnant women; Prenatal development; Prenatal diagnosis; Studies; Ultrasonic imaging; Womens health
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-019-0416-6

This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromosomal abnormalities in pregnant women who were 35 or more years-old. The primary outcome was concordance of any numerical, structural, or submicroscopic chromosomal abnormalities between BoBs™ and conventional karyotyping of amniotic fluid specimens from pregnant women at 17 to 22 weeks gestation. We examined samples from 4852 pregnant women. BoBs™ indicated that 4708 samples were normal (97.03%), and 144 were abnormal (2.97%); conventional karyotyping indicated that 4656 (95.96%) samples were normal and 196 (4.04%) were abnormal. The combined use of both methods indicated that 4633 of 4852 samples were normal (95.49%) and 219 of 4852 samples (4.51%) were abnormal. The kappa coefficient of the combined test was 0.70, indicating substantial consistency between BoBs™ and conventional karyotyping (95% CI = 0.65-0.76,