The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.

Comparative evaluation of CMA and WES for genetic diagnosis of spontaneous abortion

This study compares the diagnostic yield of chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) in the genetic etiology of spontaneous abortion. Chromosomal abnormalities are the most common cause identified, but WES reveals additional monogenic variants undetected by CMA, improving overall yield. Combining both approaches is recommended to optimize diagnosis, with direct implications for genetic counseling in recurrent pregnancy loss. The data delineate the most frequently implicated molecular pathways.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Combined CMA+WES in recurrent pregnancy loss gains clinical relevance as costs decrease. This work helps define the optimal diagnostic pipeline for this context, though varying sample sizes and inclusion criteria across studies remain important comparative limitations.

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 9/10