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.