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Stillbirth (fetal death at ≥20 weeks' gestation) may be caused by genetic problems including aneuploidy, pathogenetic copy number abnormalities, or a mendelian disorder. Investigators performed exome sequencing of tissue from 246 cases enrolled in the NIH Stillbirth Collaborative Research Network (SCRN) to identify the frequency of single-nucleotide variants and small insertions or deletions. To be included, the stillbirth could not have occurred in the context of multiple gestation, infection, maternal hypertension, maternal medical complications, or a pathologic pregnancy karyotype or microarray genetic finding.
Exome sequencing identified 15 cases with a genetic abnormality in a gene known or strongly suspected to be associated with still…