Results
The proportion of stillbirth cases with any FSMs was higher among those with abnormal CNVs compared with those with normal CNVs (46.7% vs. 19.6%; p-value<0.001). The most common organ system-specific FSMs associated with abnormal CNVs were cardiac defects, followed by craniofacial and skeletal defects. A pathogenic deletion of 1q21.1 involving 46 genes (e.g., CHD1L ) and a duplication of 21q22.13 involving 4 genes (SIM2 , CLDN14 , CHAF1B ,HLCS ) were associated with a skeletal and cardiac defect, respectively.