Chromosomal abnormalities study for anembryonic pregnancy by BACs-on-Beads technique

Abstract

Objective: This study evaluated the BACs-on-Beads™ (BoBs) efficiency assay in detecting chromosomal anomalies in products of conception (POC) specimens associated with anembryonic pregnancy (AP) among Thai pregnant women.

Method: Retrospective analysis applied the BoBs™ assay to examine AP samples from 2010 to 2022. The incidences of AP with chromosomal abnormalities were reported.

Result: Assessment of villi from anembryonic pregnancy samples found normal chromosome complement in 50% of the cases, while the remainder showed chromosomal abnormalities. Trisomy 16 was found in 15% of the cases and trisomies 22, 15, and 19 in 9.6%, 3.8%, and 3.8%, respectively. Advanced maternal age was associated with a higher incidence of aneuploidy.

Conclusion: The BoBs™ assay effectively detected diverse chromosomal abnormalities in villi samples from POC. The diagnostic utility of the BoBs™ assay was highlighted in identifying chromosomal irregularities in AP cases. Trisomy 16 possessed the most chromosomal abnormalities in the AP samples.

Keywords: Anembryonic pregnancy; Chromosomal abnormality; Maternal age; Product of conception.