Results
We identified 87 SNVs involving 75 genes in embryonic loss (n=1), 370
SNVs involving 228 genes in fetal death (n=3), and 122 SNVs involving
122 genes in stillbirth (n=2). Of these, 22 de novo , 6 autosomal
dominant and an X-linked recessive SNVs were pathogenic (probability of
being loss-of-function intolerant >0.9), impacting known
genes (e.g., DICER1 , FBN2 , FLT4 , HERC1 , andTAOK1 ) involved in embryonic/fetal development and congenital
abnormalities. Further, we identified missense compound heterozygous
SNVs impacting genes (e.g., VWA5B2 ) in two fetal death samples
that were absent from live births and population controls, providing
evidence for haplosufficient genes relevant to pregnancy loss.