Abstract:

Objective To evaluate the value of bacterial artificial chromosome on beads（BoBs）technique in prenatal diagnosis of chromosomal aneuploidy abnormality based on meta analysis. Methods CNKI，Wanfang Data Knowledge Service platform，Pubmed，EmBase databases and Google Academic platform were researched to screen the literatures on the use of BoBs technique in prenatal diagnosis of chromosomal aneuploidy abnormality. Using the traditional G-banding karyotype analysis as gold standard，a meta analysis method was used to evaluate the efficacy of BoBs technique in diagnosing chromosomal aneuploidy abnormality by fitting summary receiver operating characteristic （SROC） curve，combining diagnostic effect size and post-test probability. Results A total of 22 literatures were included，with a total of 34 479 patients. The combined sensitivity and specificity of BoBs technique for the diagnosis of chromosomal aneuploidy abnormality were 97% and 100%，respectively. The combined positive likelihood ratio was 4.6×107，the combined negative likelihood ratio was 0.028，and the combined diagnostic odds ratio was 1.6×109. The results of SROC curve analysis showed that the area under curve （AUC） for the diagnosis of chromosomal aneuploidy abnormality by BoBs technique was 1.00[95% confidence interval （CI） was 0.99-1.00]，and the analysis results of Fagan's nomogram showed that the negative post-test probability was 1%，and the positive post-test probability was 100%. Conclusions BoBs technique has high sensitivity and specificity，which can be used for prenatal diagnosis of common chromosomal aneuploidy abnormality.

Key words: Bacterial artificial chromosome on beads, Karyotype analysis, Prenatal diagnosis, Chromosomal aneuploidy abnormality