Study on the application value of BACs-on-Beads technology combined with chromosome karyotype analysis in prenatal diagnosis.

ABSTRACT:

Background

Bacterial artificial chromosome (BAC) marker-microsphere identification/separation technique [BACs-on-Beads (BoBs)] not only has a high detection rate for major chromosomal changes, but also for the other 9 microdeletion syndromes. In this study, the application value of BoBs combined with karyotype detection in prenatal diagnosis was evaluated.

Methods

The amniotic fluid samples of 132 pregnant women with prenatal diagnosis indications in Harbin Red Cross Central Hospital from June 2018 to June 2019 were collected and subjected to the detection of BoBs and routine karyotyping.

Results

Among the 132 pregnant women's amniotic fluid samples, 30 cases were abnormal in BoBs detection, with a detection rate of 22.73%, and 29 cases were abnormal in chromosome kar

SUBMITTER: Chen L 

PROVIDER: S-EPMC8905103 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature