Comparative prospective study on the clinical utility of G-banding and next-generation sequencing for chromosomal analysis of products of conception under Advanced Medical Care A in Japan.

PURPOSE

To compare the clinical utility of G-banding and next-generation sequencing (NGS) for chromosomal analysis of products of conception (POC), a crucial tool for detecting fetal chromosomal abnormalities which are major causes of miscarriage and stillbirth.

METHODS

We evaluated the clinical utility of both techniques in a prospective analysis of 40 patients who experienced miscarriages or stillbirths between 6 and 36 weeks of gestation under Advanced Medical Care A in Japan. Both methods were applied to the same POC samples. The primary outcome was the proportion of patients with a presumed cause of miscarriage or stillbirth among all submitted samples.

RESULTS

NGS presumed the cause in 75.0% (30/40) of cases, significantly outperforming G-banding's 42.5% (17/40) ( < 0.01). G-banding could analyze 67.5% (27/40) of the samples owing to culture failure, whereas NGS successfully analyzed all samples (100%, 40/40) ( < 0.01). Among the successfully analyzed samples, NGS presumed the cause in 70.3% (19/27) of cases, compared with 62.9% (17/27) for G-banding ( = 0.31). For miscarriages before 12 weeks, NGS presumed the cause in 73.5% (25/34) of cases, significantly higher than the 44.1% (15/34) ( < 0.01) presumed using G-banding.

CONCLUSIONS

These results highlight the superior efficacy of NGS over G-banding for presuming causes of miscarriage or stillbirth.